Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025142	HP:0025142	Constitutional symptom	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1			7
HP:0025142	HP:0025142	Constitutional symptom	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0025142	HP:0025142	Constitutional symptom	0	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis			130
HP:0025142	HP:0025142	Constitutional symptom	0	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis			130
HP:0025142	HP:0025142	Constitutional symptom	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0025142	HP:0025142	Constitutional symptom	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0025142	HP:0025142	Constitutional symptom	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0025142	HP:0025142	Constitutional symptom	0	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome			119
HP:0025142	HP:0025142	Constitutional symptom	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0025142	HP:0025142	Constitutional symptom	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0025142	HP:0025142	Constitutional symptom	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0025142	HP:0025142	Constitutional symptom	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0025142	HP:0025142	Constitutional symptom	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0025142	HP:0025142	Constitutional symptom	0	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease			135
HP:0025142	HP:0025142	Constitutional symptom	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia			67
HP:0025142	HP:0025142	Constitutional symptom	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia			76
HP:0025142	HP:0025142	Constitutional symptom	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0025142	HP:0025142	Constitutional symptom	0	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia			51
HP:0025142	HP:0025142	Constitutional symptom	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0025142	HP:0025142	Constitutional symptom	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0025142	HP:0025142	Constitutional symptom	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0025142	HP:0025142	Constitutional symptom	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0025142	HP:0025142	Constitutional symptom	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0025142	HP:0025142	Constitutional symptom	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0025142	HP:0025142	Constitutional symptom	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0025142	HP:0025142	Constitutional symptom	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0025142	HP:0025142	Constitutional symptom	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0025142	HP:0025142	Constitutional symptom	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0025142	HP:0025142	Constitutional symptom	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			94
HP:0025142	HP:0025142	Constitutional symptom	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type			208
HP:0025142	HP:0025142	Constitutional symptom	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0025142	HP:0025142	Constitutional symptom	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1			23
HP:0025142	HP:0025142	Constitutional symptom	0	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			27
HP:0025142	HP:0025142	Constitutional symptom	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0025142	HP:0025142	Constitutional symptom	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067				1
HP:0025142	HP:0025142	Constitutional symptom	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0025142	HP:0025142	Constitutional symptom	0	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0025142	HP:0025142	Constitutional symptom	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome			82
HP:0025142	HP:0025142	Constitutional symptom	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I			260
HP:0025142	HP:0025142	Constitutional symptom	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0025142	HP:0025142	Constitutional symptom	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0025142	HP:0025142	Constitutional symptom	0	AKAP9 CL E G H	10142	379	ORPHA:101016	Romano-Ward syndrome			289
HP:0025142	HP:0025142	Constitutional symptom	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0025142	HP:0025142	Constitutional symptom	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0025142	HP:0025142	Constitutional symptom	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0025142	HP:0025142	Constitutional symptom	0	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic			62
HP:0025142	HP:0025142	Constitutional symptom	0	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked			72
HP:0025142	HP:0025142	Constitutional symptom	0	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia			72
HP:0025142	HP:0025142	Constitutional symptom	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0025142	HP:0025142	Constitutional symptom	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia			104
HP:0025142	HP:0025142	Constitutional symptom	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0025142	HP:0025142	Constitutional symptom	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0025142	HP:0025142	Constitutional symptom	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0025142	HP:0025142	Constitutional symptom	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0025142	HP:0025142	Constitutional symptom	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0025142	HP:0025142	Constitutional symptom	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency			50
HP:0025142	HP:0025142	Constitutional symptom	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0025142	HP:0025142	Constitutional symptom	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance			73
HP:0025142	HP:0025142	Constitutional symptom	0	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2			3
HP:0025142	HP:0025142	Constitutional symptom	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0025142	HP:0025142	Constitutional symptom	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease			93
HP:0025142	HP:0025142	Constitutional symptom	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0025142	HP:0025142	Constitutional symptom	0	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis			75
HP:0025142	HP:0025142	Constitutional symptom	0	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis			63
HP:0025142	HP:0025142	Constitutional symptom	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0025142	HP:0025142	Constitutional symptom	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0025142	HP:0025142	Constitutional symptom	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0025142	HP:0025142	Constitutional symptom	0	AMPD1 CL E G H	270	468	ORPHA:45	Adenosine monophosphate deaminase deficiency			62
HP:0025142	HP:0025142	Constitutional symptom	0	AMPD1 CL E G H	270	468	OMIM:615511	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD			62
HP:0025142	HP:0025142	Constitutional symptom	0	AMPD3 CL E G H	272	470	ORPHA:45	Adenosine monophosphate deaminase deficiency			65
HP:0025142	HP:0025142	Constitutional symptom	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy			56
HP:0025142	HP:0025142	Constitutional symptom	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis			32
HP:0025142	HP:0025142	Constitutional symptom	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0025142	HP:0025142	Constitutional symptom	0	ANK2 CL E G H	287	493	OMIM:600919	Cardiac arrhythmia, ankyrin-b-related			539
HP:0025142	HP:0025142	Constitutional symptom	0	ANK2 CL E G H	287	493	ORPHA:101016	Romano-Ward syndrome			539
HP:0025142	HP:0025142	Constitutional symptom	0	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	ANKH CL E G H	56172	15492	ORPHA:1416	Familial calcium pyrophosphate deposition			164
HP:0025142	HP:0025142	Constitutional symptom	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0025142	HP:0025142	Constitutional symptom	0	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			6
HP:0025142	HP:0025142	Constitutional symptom	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0025142	HP:0025142	Constitutional symptom	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L			304
HP:0025142	HP:0025142	Constitutional symptom	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0025142	HP:0025142	Constitutional symptom	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis
HP:0025142	HP:0025142	Constitutional symptom	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0025142	HP:0025142	Constitutional symptom	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III			6
HP:0025142	HP:0025142	Constitutional symptom	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48			165
HP:0025142	HP:0025142	Constitutional symptom	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive			165
HP:0025142	HP:0025142	Constitutional symptom	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor			3179
HP:0025142	HP:0025142	Constitutional symptom	0	APC CL E G H	324	583	OMIM:619182	GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS			3179
HP:0025142	HP:0025142	Constitutional symptom	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0025142	HP:0025142	Constitutional symptom	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia			356
HP:0025142	HP:0025142	Constitutional symptom	0	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0025142	HP:0025142	Constitutional symptom	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency			19
HP:0025142	HP:0025142	Constitutional symptom	0	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency			19
HP:0025142	HP:0025142	Constitutional symptom	0	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0025142	HP:0025142	Constitutional symptom	0	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0025142	HP:0025142	Constitutional symptom	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2			7
HP:0025142	HP:0025142	Constitutional symptom	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0025142	HP:0025142	Constitutional symptom	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0025142	HP:0025142	Constitutional symptom	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0025142	HP:0025142	Constitutional symptom	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0025142	HP:0025142	Constitutional symptom	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0025142	HP:0025142	Constitutional symptom	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0025142	HP:0025142	Constitutional symptom	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0025142	HP:0025142	Constitutional symptom	0	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0025142	HP:0025142	Constitutional symptom	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0025142	HP:0025142	Constitutional symptom	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0025142	HP:0025142	Constitutional symptom	0	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis			2
HP:0025142	HP:0025142	Constitutional symptom	0	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis			1
HP:0025142	HP:0025142	Constitutional symptom	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		145
HP:0025142	HP:0025142	Constitutional symptom	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0025142	HP:0025142	Constitutional symptom	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			71
HP:0025142	HP:0025142	Constitutional symptom	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0025142	HP:0025142	Constitutional symptom	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			5
HP:0025142	HP:0025142	Constitutional symptom	0	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma			3267
HP:0025142	HP:0025142	Constitutional symptom	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis			100
HP:0025142	HP:0025142	Constitutional symptom	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0025142	HP:0025142	Constitutional symptom	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0025142	HP:0025142	Constitutional symptom	0	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0025142	HP:0025142	Constitutional symptom	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0025142	HP:0025142	Constitutional symptom	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0025142	HP:0025142	Constitutional symptom	0	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease			192
HP:0025142	HP:0025142	Constitutional symptom	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0025142	HP:0025142	Constitutional symptom	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0025142	HP:0025142	Constitutional symptom	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0025142	HP:0025142	Constitutional symptom	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0025142	HP:0025142	Constitutional symptom	0	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome			169
HP:0025142	HP:0025142	Constitutional symptom	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0025142	HP:0025142	Constitutional symptom	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10			9
HP:0025142	HP:0025142	Constitutional symptom	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0025142	HP:0025142	Constitutional symptom	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0025142	HP:0025142	Constitutional symptom	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0025142	HP:0025142	Constitutional symptom	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0025142	HP:0025142	Constitutional symptom	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0025142	HP:0025142	Constitutional symptom	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0025142	HP:0025142	Constitutional symptom	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis			8
HP:0025142	HP:0025142	Constitutional symptom	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0025142	HP:0025142	Constitutional symptom	0	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma	HP:0040282 - Frequent		184
HP:0025142	HP:0025142	Constitutional symptom	0	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma			184
HP:0025142	HP:0025142	Constitutional symptom	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma			18
HP:0025142	HP:0025142	Constitutional symptom	0	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0025142	HP:0025142	Constitutional symptom	0	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma			1
HP:0025142	HP:0025142	Constitutional symptom	0	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma			1
HP:0025142	HP:0025142	Constitutional symptom	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0025142	HP:0025142	Constitutional symptom	0	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia			5
HP:0025142	HP:0025142	Constitutional symptom	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0025142	HP:0025142	Constitutional symptom	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0025142	HP:0025142	Constitutional symptom	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease			5
HP:0025142	HP:0025142	Constitutional symptom	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0025142	HP:0025142	Constitutional symptom	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0025142	HP:0025142	Constitutional symptom	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma
HP:0025142	HP:0025142	Constitutional symptom	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0025142	HP:0025142	Constitutional symptom	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0025142	HP:0025142	Constitutional symptom	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0025142	HP:0025142	Constitutional symptom	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0025142	HP:0025142	Constitutional symptom	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0025142	HP:0025142	Constitutional symptom	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome			385
HP:0025142	HP:0025142	Constitutional symptom	0	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO			22
HP:0025142	HP:0025142	Constitutional symptom	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve			22
HP:0025142	HP:0025142	Constitutional symptom	0	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma			5769
HP:0025142	HP:0025142	Constitutional symptom	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0025142	HP:0025142	Constitutional symptom	0	BRCA1 CL E G H	672	1100	ORPHA:168829	Primary peritoneal carcinoma			5769
HP:0025142	HP:0025142	Constitutional symptom	0	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma			7642
HP:0025142	HP:0025142	Constitutional symptom	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0025142	HP:0025142	Constitutional symptom	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma			7642
HP:0025142	HP:0025142	Constitutional symptom	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17			105
HP:0025142	HP:0025142	Constitutional symptom	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0025142	HP:0025142	Constitutional symptom	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0025142	HP:0025142	Constitutional symptom	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0025142	HP:0025142	Constitutional symptom	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25			2
HP:0025142	HP:0025142	Constitutional symptom	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration			114
HP:0025142	HP:0025142	Constitutional symptom	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0025142	HP:0025142	Constitutional symptom	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0025142	HP:0025142	Constitutional symptom	0	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2			7
HP:0025142	HP:0025142	Constitutional symptom	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0025142	HP:0025142	Constitutional symptom	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis			56
HP:0025142	HP:0025142	Constitutional symptom	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			94
HP:0025142	HP:0025142	Constitutional symptom	0	CACNA1C CL E G H	775	1390	OMIM:611875	BRUGADA SYNDROME 3; BRGDA3			572
HP:0025142	HP:0025142	Constitutional symptom	0	CACNA1C CL E G H	775	1390	OMIM:618447	LONG QT SYNDROME 8; LQT8			572
HP:0025142	HP:0025142	Constitutional symptom	0	CACNA1C CL E G H	775	1390	ORPHA:101016	Romano-Ward syndrome			572
HP:0025142	HP:0025142	Constitutional symptom	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0025142	HP:0025142	Constitutional symptom	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0025142	HP:0025142	Constitutional symptom	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0025142	HP:0025142	Constitutional symptom	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy			75
HP:0025142	HP:0025142	Constitutional symptom	0	CACNA2D1 CL E G H	781	1399	ORPHA:51083	Familial short QT syndrome			59
HP:0025142	HP:0025142	Constitutional symptom	0	CALM1 CL E G H	801	1442	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			18
HP:0025142	HP:0025142	Constitutional symptom	0	CALM1 CL E G H	801	1442	OMIM:616247	Long QT syndrome 14			18
HP:0025142	HP:0025142	Constitutional symptom	0	CALM1 CL E G H	801	1442	ORPHA:101016	Romano-Ward syndrome			18
HP:0025142	HP:0025142	Constitutional symptom	0	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4			18
HP:0025142	HP:0025142	Constitutional symptom	0	CALM2 CL E G H	805	1445	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			13
HP:0025142	HP:0025142	Constitutional symptom	0	CALM2 CL E G H	805	1445	ORPHA:101016	Romano-Ward syndrome			13
HP:0025142	HP:0025142	Constitutional symptom	0	CALM3 CL E G H	808	1449	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			16
HP:0025142	HP:0025142	Constitutional symptom	0	CALM3 CL E G H	808	1449	ORPHA:101016	Romano-Ward syndrome			16
HP:0025142	HP:0025142	Constitutional symptom	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0025142	HP:0025142	Constitutional symptom	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia			1
HP:0025142	HP:0025142	Constitutional symptom	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		1
HP:0025142	HP:0025142	Constitutional symptom	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0025142	HP:0025142	Constitutional symptom	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4			323
HP:0025142	HP:0025142	Constitutional symptom	0	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30			1
HP:0025142	HP:0025142	Constitutional symptom	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0025142	HP:0025142	Constitutional symptom	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0025142	HP:0025142	Constitutional symptom	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0025142	HP:0025142	Constitutional symptom	0	CASQ1 CL E G H	844	1512	OMIM:616231	Myopathy, vacuolar, with CASQ1 aggregates			5
HP:0025142	HP:0025142	Constitutional symptom	0	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy			5
HP:0025142	HP:0025142	Constitutional symptom	0	CASQ2 CL E G H	845	1513	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			129
HP:0025142	HP:0025142	Constitutional symptom	0	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			129
HP:0025142	HP:0025142	Constitutional symptom	0	CASQ2 CL E G H	845	1513	OMIM:611938	Ventricular tachycardia, catecholaminergic polymorphic, 2			129
HP:0025142	HP:0025142	Constitutional symptom	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia			272
HP:0025142	HP:0025142	Constitutional symptom	0	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis			272
HP:0025142	HP:0025142	Constitutional symptom	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia			5
HP:0025142	HP:0025142	Constitutional symptom	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis			11
HP:0025142	HP:0025142	Constitutional symptom	0	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			148
HP:0025142	HP:0025142	Constitutional symptom	0	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum			148
HP:0025142	HP:0025142	Constitutional symptom	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type			148
HP:0025142	HP:0025142	Constitutional symptom	0	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9			148
HP:0025142	HP:0025142	Constitutional symptom	0	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease			148
HP:0025142	HP:0025142	Constitutional symptom	0	CAV3 CL E G H	859	1529	ORPHA:101016	Romano-Ward syndrome			148
HP:0025142	HP:0025142	Constitutional symptom	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0025142	HP:0025142	Constitutional symptom	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		317
HP:0025142	HP:0025142	Constitutional symptom	0	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4			25
HP:0025142	HP:0025142	Constitutional symptom	0	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0025142	HP:0025142	Constitutional symptom	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0025142	HP:0025142	Constitutional symptom	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0025142	HP:0025142	Constitutional symptom	0	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma			1
HP:0025142	HP:0025142	Constitutional symptom	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0025142	HP:0025142	Constitutional symptom	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0025142	HP:0025142	Constitutional symptom	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis
HP:0025142	HP:0025142	Constitutional symptom	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0025142	HP:0025142	Constitutional symptom	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0025142	HP:0025142	Constitutional symptom	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0025142	HP:0025142	Constitutional symptom	0	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0025142	HP:0025142	Constitutional symptom	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0025142	HP:0025142	Constitutional symptom	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			105
HP:0025142	HP:0025142	Constitutional symptom	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0025142	HP:0025142	Constitutional symptom	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy			9
HP:0025142	HP:0025142	Constitutional symptom	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0025142	HP:0025142	Constitutional symptom	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0025142	HP:0025142	Constitutional symptom	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0025142	HP:0025142	Constitutional symptom	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0025142	HP:0025142	Constitutional symptom	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0025142	HP:0025142	Constitutional symptom	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0025142	HP:0025142	Constitutional symptom	0	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0025142	HP:0025142	Constitutional symptom	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0025142	HP:0025142	Constitutional symptom	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0025142	HP:0025142	Constitutional symptom	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0025142	HP:0025142	Constitutional symptom	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0025142	HP:0025142	Constitutional symptom	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0025142	HP:0025142	Constitutional symptom	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma			289
HP:0025142	HP:0025142	Constitutional symptom	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0025142	HP:0025142	Constitutional symptom	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0025142	HP:0025142	Constitutional symptom	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0025142	HP:0025142	Constitutional symptom	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain			3
HP:0025142	HP:0025142	Constitutional symptom	0	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction			25
HP:0025142	HP:0025142	Constitutional symptom	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis
HP:0025142	HP:0025142	Constitutional symptom	0	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1			6
HP:0025142	HP:0025142	Constitutional symptom	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0025142	HP:0025142	Constitutional symptom	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0025142	HP:0025142	Constitutional symptom	0	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis			1371
HP:0025142	HP:0025142	Constitutional symptom	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis			1371
HP:0025142	HP:0025142	Constitutional symptom	0	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary			1371
HP:0025142	HP:0025142	Constitutional symptom	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0025142	HP:0025142	Constitutional symptom	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance			11
HP:0025142	HP:0025142	Constitutional symptom	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0025142	HP:0025142	Constitutional symptom	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant			11
HP:0025142	HP:0025142	Constitutional symptom	0	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma			833
HP:0025142	HP:0025142	Constitutional symptom	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis			42
HP:0025142	HP:0025142	Constitutional symptom	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0025142	HP:0025142	Constitutional symptom	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			188
HP:0025142	HP:0025142	Constitutional symptom	0	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4			188
HP:0025142	HP:0025142	Constitutional symptom	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			225
HP:0025142	HP:0025142	Constitutional symptom	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			88
HP:0025142	HP:0025142	Constitutional symptom	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0025142	HP:0025142	Constitutional symptom	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0025142	HP:0025142	Constitutional symptom	0	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy			129
HP:0025142	HP:0025142	Constitutional symptom	0	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA			118
HP:0025142	HP:0025142	Constitutional symptom	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type			5
HP:0025142	HP:0025142	Constitutional symptom	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type			5
HP:0025142	HP:0025142	Constitutional symptom	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0025142	HP:0025142	Constitutional symptom	0	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant			133
HP:0025142	HP:0025142	Constitutional symptom	0	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive			133
HP:0025142	HP:0025142	Constitutional symptom	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0025142	HP:0025142	Constitutional symptom	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0025142	HP:0025142	Constitutional symptom	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0025142	HP:0025142	Constitutional symptom	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0025142	HP:0025142	Constitutional symptom	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0025142	HP:0025142	Constitutional symptom	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0025142	HP:0025142	Constitutional symptom	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0025142	HP:0025142	Constitutional symptom	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia			38
HP:0025142	HP:0025142	Constitutional symptom	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2			1
HP:0025142	HP:0025142	Constitutional symptom	0	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14			2
HP:0025142	HP:0025142	Constitutional symptom	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0025142	HP:0025142	Constitutional symptom	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type			79
HP:0025142	HP:0025142	Constitutional symptom	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0025142	HP:0025142	Constitutional symptom	0	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			222
HP:0025142	HP:0025142	Constitutional symptom	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0025142	HP:0025142	Constitutional symptom	0	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III			222
HP:0025142	HP:0025142	Constitutional symptom	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0025142	HP:0025142	Constitutional symptom	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19			6
HP:0025142	HP:0025142	Constitutional symptom	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1			2
HP:0025142	HP:0025142	Constitutional symptom	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0025142	HP:0025142	Constitutional symptom	0	COL17A1 CL E G H	1308	2194	OMIM:122400	Epithelial recurrent erosion dystrophy			129
HP:0025142	HP:0025142	Constitutional symptom	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0025142	HP:0025142	Constitutional symptom	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0025142	HP:0025142	Constitutional symptom	0	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			284
HP:0025142	HP:0025142	Constitutional symptom	0	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1			284
HP:0025142	HP:0025142	Constitutional symptom	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type			284
HP:0025142	HP:0025142	Constitutional symptom	0	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head			284
HP:0025142	HP:0025142	Constitutional symptom	0	COL2A1 CL E G H	1280	2200	ORPHA:2380	Legg-Calvé-Perthes disease			284
HP:0025142	HP:0025142	Constitutional symptom	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0025142	HP:0025142	Constitutional symptom	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0025142	HP:0025142	Constitutional symptom	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0025142	HP:0025142	Constitutional symptom	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type			284
HP:0025142	HP:0025142	Constitutional symptom	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0025142	HP:0025142	Constitutional symptom	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0025142	HP:0025142	Constitutional symptom	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0025142	HP:0025142	Constitutional symptom	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0025142	HP:0025142	Constitutional symptom	0	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			161
HP:0025142	HP:0025142	Constitutional symptom	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0025142	HP:0025142	Constitutional symptom	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0025142	HP:0025142	Constitutional symptom	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0025142	HP:0025142	Constitutional symptom	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0025142	HP:0025142	Constitutional symptom	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0025142	HP:0025142	Constitutional symptom	0	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0025142	HP:0025142	Constitutional symptom	0	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0025142	HP:0025142	Constitutional symptom	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6			110
HP:0025142	HP:0025142	Constitutional symptom	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0025142	HP:0025142	Constitutional symptom	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0025142	HP:0025142	Constitutional symptom	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0025142	HP:0025142	Constitutional symptom	0	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0025142	HP:0025142	Constitutional symptom	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			137
HP:0025142	HP:0025142	Constitutional symptom	0	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2			89
HP:0025142	HP:0025142	Constitutional symptom	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0025142	HP:0025142	Constitutional symptom	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0025142	HP:0025142	Constitutional symptom	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0025142	HP:0025142	Constitutional symptom	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0025142	HP:0025142	Constitutional symptom	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0025142	HP:0025142	Constitutional symptom	0	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK			5
HP:0025142	HP:0025142	Constitutional symptom	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0025142	HP:0025142	Constitutional symptom	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0025142	HP:0025142	Constitutional symptom	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to			54
HP:0025142	HP:0025142	Constitutional symptom	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0025142	HP:0025142	Constitutional symptom	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0025142	HP:0025142	Constitutional symptom	0	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4			136
HP:0025142	HP:0025142	Constitutional symptom	0	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			35
HP:0025142	HP:0025142	Constitutional symptom	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0025142	HP:0025142	Constitutional symptom	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0025142	HP:0025142	Constitutional symptom	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0025142	HP:0025142	Constitutional symptom	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0025142	HP:0025142	Constitutional symptom	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0025142	HP:0025142	Constitutional symptom	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0025142	HP:0025142	Constitutional symptom	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0025142	HP:0025142	Constitutional symptom	0	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis			5
HP:0025142	HP:0025142	Constitutional symptom	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0025142	HP:0025142	Constitutional symptom	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0025142	HP:0025142	Constitutional symptom	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency			99
HP:0025142	HP:0025142	Constitutional symptom	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73			1
HP:0025142	HP:0025142	Constitutional symptom	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form			101
HP:0025142	HP:0025142	Constitutional symptom	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0025142	HP:0025142	Constitutional symptom	0	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced			101
HP:0025142	HP:0025142	Constitutional symptom	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0025142	HP:0025142	Constitutional symptom	0	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7			10
HP:0025142	HP:0025142	Constitutional symptom	0	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			12
HP:0025142	HP:0025142	Constitutional symptom	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			1
HP:0025142	HP:0025142	Constitutional symptom	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0025142	HP:0025142	Constitutional symptom	0	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia			24
HP:0025142	HP:0025142	Constitutional symptom	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0025142	HP:0025142	Constitutional symptom	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0025142	HP:0025142	Constitutional symptom	0	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12			104
HP:0025142	HP:0025142	Constitutional symptom	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0025142	HP:0025142	Constitutional symptom	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome			10
HP:0025142	HP:0025142	Constitutional symptom	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma			88
HP:0025142	HP:0025142	Constitutional symptom	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor			88
HP:0025142	HP:0025142	Constitutional symptom	0	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma			88
HP:0025142	HP:0025142	Constitutional symptom	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis			178
HP:0025142	HP:0025142	Constitutional symptom	0	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis			39
HP:0025142	HP:0025142	Constitutional symptom	0	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary			39
HP:0025142	HP:0025142	Constitutional symptom	0	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0025142	HP:0025142	Constitutional symptom	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0025142	HP:0025142	Constitutional symptom	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0025142	HP:0025142	Constitutional symptom	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0025142	HP:0025142	Constitutional symptom	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0025142	HP:0025142	Constitutional symptom	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0025142	HP:0025142	Constitutional symptom	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0025142	HP:0025142	Constitutional symptom	0	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis			54
HP:0025142	HP:0025142	Constitutional symptom	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0025142	HP:0025142	Constitutional symptom	0	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma			1
HP:0025142	HP:0025142	Constitutional symptom	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0025142	HP:0025142	Constitutional symptom	0	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0025142	HP:0025142	Constitutional symptom	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis
HP:0025142	HP:0025142	Constitutional symptom	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0025142	HP:0025142	Constitutional symptom	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency			80
HP:0025142	HP:0025142	Constitutional symptom	0	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements			36
HP:0025142	HP:0025142	Constitutional symptom	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis			86
HP:0025142	HP:0025142	Constitutional symptom	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0025142	HP:0025142	Constitutional symptom	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0025142	HP:0025142	Constitutional symptom	0	DDIT3 CL E G H	1649	2726	ORPHA:99967	Myxoid/round cell liposarcoma
HP:0025142	HP:0025142	Constitutional symptom	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0025142	HP:0025142	Constitutional symptom	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			172
HP:0025142	HP:0025142	Constitutional symptom	0	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci			172
HP:0025142	HP:0025142	Constitutional symptom	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0025142	HP:0025142	Constitutional symptom	0	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type			9
HP:0025142	HP:0025142	Constitutional symptom	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0025142	HP:0025142	Constitutional symptom	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma			164
HP:0025142	HP:0025142	Constitutional symptom	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0025142	HP:0025142	Constitutional symptom	0	DKK1 CL E G H	22943	2891	ORPHA:85193	Idiopathic juvenile osteoporosis
HP:0025142	HP:0025142	Constitutional symptom	0	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus
HP:0025142	HP:0025142	Constitutional symptom	0	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0025142	HP:0025142	Constitutional symptom	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0025142	HP:0025142	Constitutional symptom	0	DMD CL E G H	1756	2928	ORPHA:98895	Becker muscular dystrophy			1496
HP:0025142	HP:0025142	Constitutional symptom	0	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type			1496
HP:0025142	HP:0025142	Constitutional symptom	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0025142	HP:0025142	Constitutional symptom	0	DMGDH CL E G H	29958	24475	ORPHA:243343	Dimethylglycine dehydrogenase deficiency			27
HP:0025142	HP:0025142	Constitutional symptom	0	DMGDH CL E G H	29958	24475	OMIM:605850	DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD			27
HP:0025142	HP:0025142	Constitutional symptom	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0025142	HP:0025142	Constitutional symptom	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0025142	HP:0025142	Constitutional symptom	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0025142	HP:0025142	Constitutional symptom	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0025142	HP:0025142	Constitutional symptom	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0025142	HP:0025142	Constitutional symptom	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E			103
HP:0025142	HP:0025142	Constitutional symptom	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0025142	HP:0025142	Constitutional symptom	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism			6
HP:0025142	HP:0025142	Constitutional symptom	0	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements			2
HP:0025142	HP:0025142	Constitutional symptom	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0025142	HP:0025142	Constitutional symptom	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0025142	HP:0025142	Constitutional symptom	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0025142	HP:0025142	Constitutional symptom	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0025142	HP:0025142	Constitutional symptom	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0025142	HP:0025142	Constitutional symptom	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0025142	HP:0025142	Constitutional symptom	0	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG			9
HP:0025142	HP:0025142	Constitutional symptom	0	DPP6 CL E G H	1804	3010	OMIM:612956	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2			18
HP:0025142	HP:0025142	Constitutional symptom	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0025142	HP:0025142	Constitutional symptom	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11			268
HP:0025142	HP:0025142	Constitutional symptom	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0025142	HP:0025142	Constitutional symptom	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10			358
HP:0025142	HP:0025142	Constitutional symptom	0	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8			747
HP:0025142	HP:0025142	Constitutional symptom	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0025142	HP:0025142	Constitutional symptom	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1			163
HP:0025142	HP:0025142	Constitutional symptom	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0025142	HP:0025142	Constitutional symptom	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy			600
HP:0025142	HP:0025142	Constitutional symptom	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B			600
HP:0025142	HP:0025142	Constitutional symptom	0	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease			13
HP:0025142	HP:0025142	Constitutional symptom	0	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease			67
HP:0025142	HP:0025142	Constitutional symptom	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome			67
HP:0025142	HP:0025142	Constitutional symptom	0	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease			55
HP:0025142	HP:0025142	Constitutional symptom	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome			55
HP:0025142	HP:0025142	Constitutional symptom	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0025142	HP:0025142	Constitutional symptom	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0025142	HP:0025142	Constitutional symptom	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2			40
HP:0025142	HP:0025142	Constitutional symptom	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia			79
HP:0025142	HP:0025142	Constitutional symptom	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia			79
HP:0025142	HP:0025142	Constitutional symptom	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0025142	HP:0025142	Constitutional symptom	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			172
HP:0025142	HP:0025142	Constitutional symptom	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0025142	HP:0025142	Constitutional symptom	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0025142	HP:0025142	Constitutional symptom	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked			107
HP:0025142	HP:0025142	Constitutional symptom	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0025142	HP:0025142	Constitutional symptom	0	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0025142	HP:0025142	Constitutional symptom	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0025142	HP:0025142	Constitutional symptom	0	ENO3 CL E G H	2027	3354	OMIM:612932	Glycogen storage disease XIII			34
HP:0025142	HP:0025142	Constitutional symptom	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0025142	HP:0025142	Constitutional symptom	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0025142	HP:0025142	Constitutional symptom	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0025142	HP:0025142	Constitutional symptom	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0025142	HP:0025142	Constitutional symptom	0	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0025142	HP:0025142	Constitutional symptom	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0025142	HP:0025142	Constitutional symptom	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0025142	HP:0025142	Constitutional symptom	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0025142	HP:0025142	Constitutional symptom	0	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia			43
HP:0025142	HP:0025142	Constitutional symptom	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0025142	HP:0025142	Constitutional symptom	0	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease			77
HP:0025142	HP:0025142	Constitutional symptom	0	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease			12
HP:0025142	HP:0025142	Constitutional symptom	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0025142	HP:0025142	Constitutional symptom	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis			15
HP:0025142	HP:0025142	Constitutional symptom	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0025142	HP:0025142	Constitutional symptom	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0025142	HP:0025142	Constitutional symptom	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0025142	HP:0025142	Constitutional symptom	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0025142	HP:0025142	Constitutional symptom	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62			2
HP:0025142	HP:0025142	Constitutional symptom	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0025142	HP:0025142	Constitutional symptom	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0025142	HP:0025142	Constitutional symptom	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas			96
HP:0025142	HP:0025142	Constitutional symptom	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0025142	HP:0025142	Constitutional symptom	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas			102
HP:0025142	HP:0025142	Constitutional symptom	0	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J			111
HP:0025142	HP:0025142	Constitutional symptom	0	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0025142	HP:0025142	Constitutional symptom	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0025142	HP:0025142	Constitutional symptom	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A			303
HP:0025142	HP:0025142	Constitutional symptom	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A			303
HP:0025142	HP:0025142	Constitutional symptom	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0025142	HP:0025142	Constitutional symptom	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0025142	HP:0025142	Constitutional symptom	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0025142	HP:0025142	Constitutional symptom	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0025142	HP:0025142	Constitutional symptom	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0025142	HP:0025142	Constitutional symptom	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0025142	HP:0025142	Constitutional symptom	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0025142	HP:0025142	Constitutional symptom	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0025142	HP:0025142	Constitutional symptom	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			1361
HP:0025142	HP:0025142	Constitutional symptom	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0025142	HP:0025142	Constitutional symptom	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0025142	HP:0025142	Constitutional symptom	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0025142	HP:0025142	Constitutional symptom	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets			51
HP:0025142	HP:0025142	Constitutional symptom	0	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant			51
HP:0025142	HP:0025142	Constitutional symptom	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0025142	HP:0025142	Constitutional symptom	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0025142	HP:0025142	Constitutional symptom	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy			68
HP:0025142	HP:0025142	Constitutional symptom	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0025142	HP:0025142	Constitutional symptom	0	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0025142	HP:0025142	Constitutional symptom	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis			111
HP:0025142	HP:0025142	Constitutional symptom	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0025142	HP:0025142	Constitutional symptom	0	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0025142	HP:0025142	Constitutional symptom	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			157
HP:0025142	HP:0025142	Constitutional symptom	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0025142	HP:0025142	Constitutional symptom	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0025142	HP:0025142	Constitutional symptom	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			184
HP:0025142	HP:0025142	Constitutional symptom	0	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency			18
HP:0025142	HP:0025142	Constitutional symptom	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0025142	HP:0025142	Constitutional symptom	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26			197
HP:0025142	HP:0025142	Constitutional symptom	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0025142	HP:0025142	Constitutional symptom	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0025142	HP:0025142	Constitutional symptom	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0025142	HP:0025142	Constitutional symptom	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0025142	HP:0025142	Constitutional symptom	0	FMO3 CL E G H	2328	3771	ORPHA:468726	Severe primary trimethylaminuria			55
HP:0025142	HP:0025142	Constitutional symptom	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0025142	HP:0025142	Constitutional symptom	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome			30
HP:0025142	HP:0025142	Constitutional symptom	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0025142	HP:0025142	Constitutional symptom	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0025142	HP:0025142	Constitutional symptom	0	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis			9
HP:0025142	HP:0025142	Constitutional symptom	0	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma			9
HP:0025142	HP:0025142	Constitutional symptom	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			23
HP:0025142	HP:0025142	Constitutional symptom	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma			184
HP:0025142	HP:0025142	Constitutional symptom	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0025142	HP:0025142	Constitutional symptom	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome			50
HP:0025142	HP:0025142	Constitutional symptom	0	FSHR CL E G H	2492	3969	OMIM:608115	Ovarian hyperstimulation syndrome			50
HP:0025142	HP:0025142	Constitutional symptom	0	FTL CL E G H	2512	3999	ORPHA:254704	Genetic hyperferritinemia without iron overload			33
HP:0025142	HP:0025142	Constitutional symptom	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis			105
HP:0025142	HP:0025142	Constitutional symptom	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0025142	HP:0025142	Constitutional symptom	0	FUS CL E G H	2521	4010	ORPHA:99967	Myxoid/round cell liposarcoma			105
HP:0025142	HP:0025142	Constitutional symptom	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence			3
HP:0025142	HP:0025142	Constitutional symptom	0	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0025142	HP:0025142	Constitutional symptom	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0025142	HP:0025142	Constitutional symptom	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0025142	HP:0025142	Constitutional symptom	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy			134
HP:0025142	HP:0025142	Constitutional symptom	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy			57
HP:0025142	HP:0025142	Constitutional symptom	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy			139
HP:0025142	HP:0025142	Constitutional symptom	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0025142	HP:0025142	Constitutional symptom	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0025142	HP:0025142	Constitutional symptom	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease			6
HP:0025142	HP:0025142	Constitutional symptom	0	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0025142	HP:0025142	Constitutional symptom	0	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome			137
HP:0025142	HP:0025142	Constitutional symptom	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type			87
HP:0025142	HP:0025142	Constitutional symptom	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type			37
HP:0025142	HP:0025142	Constitutional symptom	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0025142	HP:0025142	Constitutional symptom	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0025142	HP:0025142	Constitutional symptom	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0025142	HP:0025142	Constitutional symptom	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0025142	HP:0025142	Constitutional symptom	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0025142	HP:0025142	Constitutional symptom	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46			30
HP:0025142	HP:0025142	Constitutional symptom	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0025142	HP:0025142	Constitutional symptom	0	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease			86
HP:0025142	HP:0025142	Constitutional symptom	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form			86
HP:0025142	HP:0025142	Constitutional symptom	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0025142	HP:0025142	Constitutional symptom	0	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia			1
HP:0025142	HP:0025142	Constitutional symptom	0	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0025142	HP:0025142	Constitutional symptom	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0025142	HP:0025142	Constitutional symptom	0	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency			237
HP:0025142	HP:0025142	Constitutional symptom	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy			5
HP:0025142	HP:0025142	Constitutional symptom	0	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease			59
HP:0025142	HP:0025142	Constitutional symptom	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0025142	HP:0025142	Constitutional symptom	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia			56
HP:0025142	HP:0025142	Constitutional symptom	0	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency			37
HP:0025142	HP:0025142	Constitutional symptom	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0025142	HP:0025142	Constitutional symptom	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0025142	HP:0025142	Constitutional symptom	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0025142	HP:0025142	Constitutional symptom	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive			37
HP:0025142	HP:0025142	Constitutional symptom	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0025142	HP:0025142	Constitutional symptom	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease			291
HP:0025142	HP:0025142	Constitutional symptom	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy			166
HP:0025142	HP:0025142	Constitutional symptom	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis			45
HP:0025142	HP:0025142	Constitutional symptom	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0025142	HP:0025142	Constitutional symptom	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis
HP:0025142	HP:0025142	Constitutional symptom	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19			34
HP:0025142	HP:0025142	Constitutional symptom	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14			34
HP:0025142	HP:0025142	Constitutional symptom	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia			16
HP:0025142	HP:0025142	Constitutional symptom	0	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma			16
HP:0025142	HP:0025142	Constitutional symptom	0	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0025142	HP:0025142	Constitutional symptom	0	GNAI2 CL E G H	2771	4385	OMIM:192605	Ventricular tachycardia, familial			4
HP:0025142	HP:0025142	Constitutional symptom	0	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma			7
HP:0025142	HP:0025142	Constitutional symptom	0	GNAS CL E G H	2778	4392	ORPHA:57782	Mazabraud syndrome			101
HP:0025142	HP:0025142	Constitutional symptom	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0025142	HP:0025142	Constitutional symptom	0	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia			101
HP:0025142	HP:0025142	Constitutional symptom	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0025142	HP:0025142	Constitutional symptom	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0025142	HP:0025142	Constitutional symptom	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0025142	HP:0025142	Constitutional symptom	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0025142	HP:0025142	Constitutional symptom	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0025142	HP:0025142	Constitutional symptom	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma			57
HP:0025142	HP:0025142	Constitutional symptom	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0025142	HP:0025142	Constitutional symptom	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma			73
HP:0025142	HP:0025142	Constitutional symptom	0	GPD1L CL E G H	23171	28956	OMIM:611777	BRUGADA SYNDROME 2; BRGDA2			97
HP:0025142	HP:0025142	Constitutional symptom	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0025142	HP:0025142	Constitutional symptom	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0025142	HP:0025142	Constitutional symptom	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0025142	HP:0025142	Constitutional symptom	0	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0025142	HP:0025142	Constitutional symptom	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0025142	HP:0025142	Constitutional symptom	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0025142	HP:0025142	Constitutional symptom	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0025142	HP:0025142	Constitutional symptom	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0025142	HP:0025142	Constitutional symptom	0	GUCY2C CL E G H	2984	4688	OMIM:614616	Diarrhea 6			12
HP:0025142	HP:0025142	Constitutional symptom	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0025142	HP:0025142	Constitutional symptom	0	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0025142	HP:0025142	Constitutional symptom	0	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle			52
HP:0025142	HP:0025142	Constitutional symptom	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma			4
HP:0025142	HP:0025142	Constitutional symptom	0	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma			58
HP:0025142	HP:0025142	Constitutional symptom	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0025142	HP:0025142	Constitutional symptom	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0025142	HP:0025142	Constitutional symptom	0	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency			99
HP:0025142	HP:0025142	Constitutional symptom	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0025142	HP:0025142	Constitutional symptom	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0025142	HP:0025142	Constitutional symptom	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0025142	HP:0025142	Constitutional symptom	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0025142	HP:0025142	Constitutional symptom	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0025142	HP:0025142	Constitutional symptom	0	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0025142	HP:0025142	Constitutional symptom	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0025142	HP:0025142	Constitutional symptom	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0025142	HP:0025142	Constitutional symptom	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0025142	HP:0025142	Constitutional symptom	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0025142	HP:0025142	Constitutional symptom	0	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0025142	HP:0025142	Constitutional symptom	0	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0025142	HP:0025142	Constitutional symptom	0	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0025142	HP:0025142	Constitutional symptom	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0025142	HP:0025142	Constitutional symptom	0	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0025142	HP:0025142	Constitutional symptom	0	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0025142	HP:0025142	Constitutional symptom	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0025142	HP:0025142	Constitutional symptom	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0025142	HP:0025142	Constitutional symptom	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0025142	HP:0025142	Constitutional symptom	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0025142	HP:0025142	Constitutional symptom	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0025142	HP:0025142	Constitutional symptom	0	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0025142	HP:0025142	Constitutional symptom	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0025142	HP:0025142	Constitutional symptom	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0025142	HP:0025142	Constitutional symptom	0	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata			38
HP:0025142	HP:0025142	Constitutional symptom	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0025142	HP:0025142	Constitutional symptom	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria			77
HP:0025142	HP:0025142	Constitutional symptom	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria			77
HP:0025142	HP:0025142	Constitutional symptom	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0025142	HP:0025142	Constitutional symptom	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1			4
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease			1
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis			2
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis			2
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma			2
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to			2
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0025142	HP:0025142	Constitutional symptom	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0025142	HP:0025142	Constitutional symptom	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0025142	HP:0025142	Constitutional symptom	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent			81
HP:0025142	HP:0025142	Constitutional symptom	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0025142	HP:0025142	Constitutional symptom	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0025142	HP:0025142	Constitutional symptom	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0025142	HP:0025142	Constitutional symptom	0	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3			31
HP:0025142	HP:0025142	Constitutional symptom	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0025142	HP:0025142	Constitutional symptom	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0025142	HP:0025142	Constitutional symptom	0	HOGA1 CL E G H	112817	25155	ORPHA:93600	Primary hyperoxaluria type 3			83
HP:0025142	HP:0025142	Constitutional symptom	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0025142	HP:0025142	Constitutional symptom	0	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy			55
HP:0025142	HP:0025142	Constitutional symptom	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1			55
HP:0025142	HP:0025142	Constitutional symptom	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0025142	HP:0025142	Constitutional symptom	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0025142	HP:0025142	Constitutional symptom	0	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome			9
HP:0025142	HP:0025142	Constitutional symptom	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0025142	HP:0025142	Constitutional symptom	0	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0025142	HP:0025142	Constitutional symptom	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13			46
HP:0025142	HP:0025142	Constitutional symptom	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant			46
HP:0025142	HP:0025142	Constitutional symptom	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0025142	HP:0025142	Constitutional symptom	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0025142	HP:0025142	Constitutional symptom	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0025142	HP:0025142	Constitutional symptom	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0025142	HP:0025142	Constitutional symptom	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0025142	HP:0025142	Constitutional symptom	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome			15
HP:0025142	HP:0025142	Constitutional symptom	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease			15
HP:0025142	HP:0025142	Constitutional symptom	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome			29
HP:0025142	HP:0025142	Constitutional symptom	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease			29
HP:0025142	HP:0025142	Constitutional symptom	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0025142	HP:0025142	Constitutional symptom	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0025142	HP:0025142	Constitutional symptom	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0025142	HP:0025142	Constitutional symptom	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease			148
HP:0025142	HP:0025142	Constitutional symptom	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0025142	HP:0025142	Constitutional symptom	0	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma			7
HP:0025142	HP:0025142	Constitutional symptom	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma			7
HP:0025142	HP:0025142	Constitutional symptom	0	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma			7
HP:0025142	HP:0025142	Constitutional symptom	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0025142	HP:0025142	Constitutional symptom	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0025142	HP:0025142	Constitutional symptom	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0025142	HP:0025142	Constitutional symptom	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0025142	HP:0025142	Constitutional symptom	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0025142	HP:0025142	Constitutional symptom	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0025142	HP:0025142	Constitutional symptom	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0025142	HP:0025142	Constitutional symptom	0	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0025142	HP:0025142	Constitutional symptom	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0025142	HP:0025142	Constitutional symptom	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0025142	HP:0025142	Constitutional symptom	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0025142	HP:0025142	Constitutional symptom	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0025142	HP:0025142	Constitutional symptom	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis			46
HP:0025142	HP:0025142	Constitutional symptom	0	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0025142	HP:0025142	Constitutional symptom	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0025142	HP:0025142	Constitutional symptom	0	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11			3
HP:0025142	HP:0025142	Constitutional symptom	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0025142	HP:0025142	Constitutional symptom	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0025142	HP:0025142	Constitutional symptom	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0025142	HP:0025142	Constitutional symptom	0	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease			2
HP:0025142	HP:0025142	Constitutional symptom	0	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0025142	HP:0025142	Constitutional symptom	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0025142	HP:0025142	Constitutional symptom	0	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			135
HP:0025142	HP:0025142	Constitutional symptom	0	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency			229
HP:0025142	HP:0025142	Constitutional symptom	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0025142	HP:0025142	Constitutional symptom	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0025142	HP:0025142	Constitutional symptom	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0025142	HP:0025142	Constitutional symptom	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0025142	HP:0025142	Constitutional symptom	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis			4
HP:0025142	HP:0025142	Constitutional symptom	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis			4
HP:0025142	HP:0025142	Constitutional symptom	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type			19
HP:0025142	HP:0025142	Constitutional symptom	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy			2
HP:0025142	HP:0025142	Constitutional symptom	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0025142	HP:0025142	Constitutional symptom	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025142	HP:0025142	Constitutional symptom	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0025142	HP:0025142	Constitutional symptom	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0025142	HP:0025142	Constitutional symptom	0	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1			57
HP:0025142	HP:0025142	Constitutional symptom	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia			57
HP:0025142	HP:0025142	Constitutional symptom	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0025142	HP:0025142	Constitutional symptom	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0025142	HP:0025142	Constitutional symptom	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		57
HP:0025142	HP:0025142	Constitutional symptom	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0025142	HP:0025142	Constitutional symptom	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0025142	HP:0025142	Constitutional symptom	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0025142	HP:0025142	Constitutional symptom	0	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease			222
HP:0025142	HP:0025142	Constitutional symptom	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0025142	HP:0025142	Constitutional symptom	0	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6			80
HP:0025142	HP:0025142	Constitutional symptom	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0025142	HP:0025142	Constitutional symptom	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22			35
HP:0025142	HP:0025142	Constitutional symptom	0	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome			148
HP:0025142	HP:0025142	Constitutional symptom	0	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2			148
HP:0025142	HP:0025142	Constitutional symptom	0	KCNE1 CL E G H	3753	6240	OMIM:613695	Long QT syndrome 5			148
HP:0025142	HP:0025142	Constitutional symptom	0	KCNE1 CL E G H	3753	6240	ORPHA:101016	Romano-Ward syndrome			148
HP:0025142	HP:0025142	Constitutional symptom	0	KCNE2 CL E G H	9992	6242	OMIM:613693	Long QT syndrome 6			43
HP:0025142	HP:0025142	Constitutional symptom	0	KCNE2 CL E G H	9992	6242	ORPHA:101016	Romano-Ward syndrome			43
HP:0025142	HP:0025142	Constitutional symptom	0	KCNH2 CL E G H	3757	6251	ORPHA:51083	Familial short QT syndrome			901
HP:0025142	HP:0025142	Constitutional symptom	0	KCNH2 CL E G H	3757	6251	OMIM:613688	Long QT syndrome 2			901
HP:0025142	HP:0025142	Constitutional symptom	0	KCNH2 CL E G H	3757	6251	ORPHA:101016	Romano-Ward syndrome			901
HP:0025142	HP:0025142	Constitutional symptom	0	KCNH2 CL E G H	3757	6251	OMIM:609620	SHORT QT SYNDROME 1; SQT1			901
HP:0025142	HP:0025142	Constitutional symptom	0	KCNJ2 CL E G H	3759	6263	ORPHA:51083	Familial short QT syndrome			193
HP:0025142	HP:0025142	Constitutional symptom	0	KCNJ5 CL E G H	3762	6266	ORPHA:101016	Romano-Ward syndrome			128
HP:0025142	HP:0025142	Constitutional symptom	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0025142	HP:0025142	Constitutional symptom	0	KCNQ1 CL E G H	3784	6294	ORPHA:51083	Familial short QT syndrome			730
HP:0025142	HP:0025142	Constitutional symptom	0	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome			730
HP:0025142	HP:0025142	Constitutional symptom	0	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1			730
HP:0025142	HP:0025142	Constitutional symptom	0	KCNQ1 CL E G H	3784	6294	OMIM:192500	LONG QT SYNDROME 1; LQT1			730
HP:0025142	HP:0025142	Constitutional symptom	0	KCNQ1 CL E G H	3784	6294	ORPHA:101016	Romano-Ward syndrome			730
HP:0025142	HP:0025142	Constitutional symptom	0	KCNQ1 CL E G H	3784	6294	OMIM:609621	Short QT syndrome 2			730
HP:0025142	HP:0025142	Constitutional symptom	0	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			321
HP:0025142	HP:0025142	Constitutional symptom	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0025142	HP:0025142	Constitutional symptom	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0025142	HP:0025142	Constitutional symptom	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0025142	HP:0025142	Constitutional symptom	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III			1
HP:0025142	HP:0025142	Constitutional symptom	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant			93
HP:0025142	HP:0025142	Constitutional symptom	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type			167
HP:0025142	HP:0025142	Constitutional symptom	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0025142	HP:0025142	Constitutional symptom	0	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor			327
HP:0025142	HP:0025142	Constitutional symptom	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0025142	HP:0025142	Constitutional symptom	0	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3			68
HP:0025142	HP:0025142	Constitutional symptom	0	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0025142	HP:0025142	Constitutional symptom	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0025142	HP:0025142	Constitutional symptom	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0025142	HP:0025142	Constitutional symptom	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0025142	HP:0025142	Constitutional symptom	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0025142	HP:0025142	Constitutional symptom	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0025142	HP:0025142	Constitutional symptom	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0025142	HP:0025142	Constitutional symptom	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0025142	HP:0025142	Constitutional symptom	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0025142	HP:0025142	Constitutional symptom	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0025142	HP:0025142	Constitutional symptom	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0025142	HP:0025142	Constitutional symptom	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0025142	HP:0025142	Constitutional symptom	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0025142	HP:0025142	Constitutional symptom	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0025142	HP:0025142	Constitutional symptom	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0025142	HP:0025142	Constitutional symptom	0	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0025142	HP:0025142	Constitutional symptom	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease			211
HP:0025142	HP:0025142	Constitutional symptom	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome			70
HP:0025142	HP:0025142	Constitutional symptom	0	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction			286
HP:0025142	HP:0025142	Constitutional symptom	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency			35
HP:0025142	HP:0025142	Constitutional symptom	0	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI			35
HP:0025142	HP:0025142	Constitutional symptom	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia			2157
HP:0025142	HP:0025142	Constitutional symptom	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia			73
HP:0025142	HP:0025142	Constitutional symptom	0	LEMD2 CL E G H	221496	21244	OMIM:212500	CATARACT 46, JUVENILE-ONSET; CTRCT46			1
HP:0025142	HP:0025142	Constitutional symptom	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0025142	HP:0025142	Constitutional symptom	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0025142	HP:0025142	Constitutional symptom	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0025142	HP:0025142	Constitutional symptom	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0025142	HP:0025142	Constitutional symptom	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0025142	HP:0025142	Constitutional symptom	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0025142	HP:0025142	Constitutional symptom	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis			1
HP:0025142	HP:0025142	Constitutional symptom	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0025142	HP:0025142	Constitutional symptom	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0025142	HP:0025142	Constitutional symptom	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0025142	HP:0025142	Constitutional symptom	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0025142	HP:0025142	Constitutional symptom	0	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A			645
HP:0025142	HP:0025142	Constitutional symptom	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0025142	HP:0025142	Constitutional symptom	0	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation			645
HP:0025142	HP:0025142	Constitutional symptom	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0025142	HP:0025142	Constitutional symptom	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0025142	HP:0025142	Constitutional symptom	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0025142	HP:0025142	Constitutional symptom	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0025142	HP:0025142	Constitutional symptom	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0025142	HP:0025142	Constitutional symptom	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0025142	HP:0025142	Constitutional symptom	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0025142	HP:0025142	Constitutional symptom	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0025142	HP:0025142	Constitutional symptom	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0025142	HP:0025142	Constitutional symptom	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			6
HP:0025142	HP:0025142	Constitutional symptom	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0025142	HP:0025142	Constitutional symptom	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent			95
HP:0025142	HP:0025142	Constitutional symptom	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0025142	HP:0025142	Constitutional symptom	0	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0025142	HP:0025142	Constitutional symptom	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0025142	HP:0025142	Constitutional symptom	0	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0025142	HP:0025142	Constitutional symptom	0	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome			5
HP:0025142	HP:0025142	Constitutional symptom	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata			4
HP:0025142	HP:0025142	Constitutional symptom	0	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease			125
HP:0025142	HP:0025142	Constitutional symptom	0	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0025142	HP:0025142	Constitutional symptom	0	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2			26
HP:0025142	HP:0025142	Constitutional symptom	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0025142	HP:0025142	Constitutional symptom	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0025142	HP:0025142	Constitutional symptom	0	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			59
HP:0025142	HP:0025142	Constitutional symptom	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma			6
HP:0025142	HP:0025142	Constitutional symptom	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0025142	HP:0025142	Constitutional symptom	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0025142	HP:0025142	Constitutional symptom	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0025142	HP:0025142	Constitutional symptom	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0025142	HP:0025142	Constitutional symptom	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0025142	HP:0025142	Constitutional symptom	0	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY			82
HP:0025142	HP:0025142	Constitutional symptom	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			13
HP:0025142	HP:0025142	Constitutional symptom	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0025142	HP:0025142	Constitutional symptom	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0025142	HP:0025142	Constitutional symptom	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis			80
HP:0025142	HP:0025142	Constitutional symptom	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0025142	HP:0025142	Constitutional symptom	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0025142	HP:0025142	Constitutional symptom	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0025142	HP:0025142	Constitutional symptom	0	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE			5
HP:0025142	HP:0025142	Constitutional symptom	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0025142	HP:0025142	Constitutional symptom	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0025142	HP:0025142	Constitutional symptom	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0025142	HP:0025142	Constitutional symptom	0	MEF2A CL E G H	4205	6993	OMIM:608320	Coronary artery disease, autosomal dominant, 1			5
HP:0025142	HP:0025142	Constitutional symptom	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0025142	HP:0025142	Constitutional symptom	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever			281
HP:0025142	HP:0025142	Constitutional symptom	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0025142	HP:0025142	Constitutional symptom	0	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT			281
HP:0025142	HP:0025142	Constitutional symptom	0	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis			281
HP:0025142	HP:0025142	Constitutional symptom	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0025142	HP:0025142	Constitutional symptom	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome			281
HP:0025142	HP:0025142	Constitutional symptom	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0025142	HP:0025142	Constitutional symptom	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0025142	HP:0025142	Constitutional symptom	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0025142	HP:0025142	Constitutional symptom	0	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0025142	HP:0025142	Constitutional symptom	0	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma			375
HP:0025142	HP:0025142	Constitutional symptom	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0025142	HP:0025142	Constitutional symptom	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			11
HP:0025142	HP:0025142	Constitutional symptom	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0025142	HP:0025142	Constitutional symptom	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A			203
HP:0025142	HP:0025142	Constitutional symptom	0	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis			203
HP:0025142	HP:0025142	Constitutional symptom	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0025142	HP:0025142	Constitutional symptom	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0025142	HP:0025142	Constitutional symptom	0	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0025142	HP:0025142	Constitutional symptom	0	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0025142	HP:0025142	Constitutional symptom	0	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma			3
HP:0025142	HP:0025142	Constitutional symptom	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome			91
HP:0025142	HP:0025142	Constitutional symptom	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0025142	HP:0025142	Constitutional symptom	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0025142	HP:0025142	Constitutional symptom	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0025142	HP:0025142	Constitutional symptom	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0025142	HP:0025142	Constitutional symptom	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0025142	HP:0025142	Constitutional symptom	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0025142	HP:0025142	Constitutional symptom	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0025142	HP:0025142	Constitutional symptom	0	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD			50
HP:0025142	HP:0025142	Constitutional symptom	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0025142	HP:0025142	Constitutional symptom	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43			18
HP:0025142	HP:0025142	Constitutional symptom	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0025142	HP:0025142	Constitutional symptom	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0025142	HP:0025142	Constitutional symptom	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0025142	HP:0025142	Constitutional symptom	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0025142	HP:0025142	Constitutional symptom	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome			17
HP:0025142	HP:0025142	Constitutional symptom	0	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II			4
HP:0025142	HP:0025142	Constitutional symptom	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0025142	HP:0025142	Constitutional symptom	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0025142	HP:0025142	Constitutional symptom	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia			97
HP:0025142	HP:0025142	Constitutional symptom	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0025142	HP:0025142	Constitutional symptom	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0025142	HP:0025142	Constitutional symptom	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		97
HP:0025142	HP:0025142	Constitutional symptom	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0025142	HP:0025142	Constitutional symptom	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0025142	HP:0025142	Constitutional symptom	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0025142	HP:0025142	Constitutional symptom	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0025142	HP:0025142	Constitutional symptom	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0025142	HP:0025142	Constitutional symptom	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0025142	HP:0025142	Constitutional symptom	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0025142	HP:0025142	Constitutional symptom	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0025142	HP:0025142	Constitutional symptom	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia			5
HP:0025142	HP:0025142	Constitutional symptom	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0025142	HP:0025142	Constitutional symptom	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0025142	HP:0025142	Constitutional symptom	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0025142	HP:0025142	Constitutional symptom	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0025142	HP:0025142	Constitutional symptom	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever			150
HP:0025142	HP:0025142	Constitutional symptom	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0025142	HP:0025142	Constitutional symptom	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0025142	HP:0025142	Constitutional symptom	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma			11
HP:0025142	HP:0025142	Constitutional symptom	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0025142	HP:0025142	Constitutional symptom	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0025142	HP:0025142	Constitutional symptom	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection			418
HP:0025142	HP:0025142	Constitutional symptom	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			418
HP:0025142	HP:0025142	Constitutional symptom	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0025142	HP:0025142	Constitutional symptom	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type			452
HP:0025142	HP:0025142	Constitutional symptom	0	MYH6 CL E G H	4624	7576	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			452
HP:0025142	HP:0025142	Constitutional symptom	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0025142	HP:0025142	Constitutional symptom	0	MYH7 CL E G H	4625	7577	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			1269
HP:0025142	HP:0025142	Constitutional symptom	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve			1269
HP:0025142	HP:0025142	Constitutional symptom	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy			1269
HP:0025142	HP:0025142	Constitutional symptom	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0025142	HP:0025142	Constitutional symptom	0	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0025142	HP:0025142	Constitutional symptom	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0025142	HP:0025142	Constitutional symptom	0	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8			95
HP:0025142	HP:0025142	Constitutional symptom	0	MYLK CL E G H	4638	7590	OMIM:613780	AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7			326
HP:0025142	HP:0025142	Constitutional symptom	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			326
HP:0025142	HP:0025142	Constitutional symptom	0	MYLK2 CL E G H	85366	16243	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			124
HP:0025142	HP:0025142	Constitutional symptom	0	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0025142	HP:0025142	Constitutional symptom	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0025142	HP:0025142	Constitutional symptom	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY			75
HP:0025142	HP:0025142	Constitutional symptom	0	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16			81
HP:0025142	HP:0025142	Constitutional symptom	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0025142	HP:0025142	Constitutional symptom	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0025142	HP:0025142	Constitutional symptom	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0025142	HP:0025142	Constitutional symptom	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency			36
HP:0025142	HP:0025142	Constitutional symptom	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0025142	HP:0025142	Constitutional symptom	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0025142	HP:0025142	Constitutional symptom	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0025142	HP:0025142	Constitutional symptom	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0025142	HP:0025142	Constitutional symptom	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0025142	HP:0025142	Constitutional symptom	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0025142	HP:0025142	Constitutional symptom	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0025142	HP:0025142	Constitutional symptom	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0025142	HP:0025142	Constitutional symptom	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0025142	HP:0025142	Constitutional symptom	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis			24
HP:0025142	HP:0025142	Constitutional symptom	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0025142	HP:0025142	Constitutional symptom	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis			101
HP:0025142	HP:0025142	Constitutional symptom	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0025142	HP:0025142	Constitutional symptom	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0025142	HP:0025142	Constitutional symptom	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0025142	HP:0025142	Constitutional symptom	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0025142	HP:0025142	Constitutional symptom	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0025142	HP:0025142	Constitutional symptom	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0025142	HP:0025142	Constitutional symptom	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0025142	HP:0025142	Constitutional symptom	0	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA			1
HP:0025142	HP:0025142	Constitutional symptom	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0025142	HP:0025142	Constitutional symptom	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6			117
HP:0025142	HP:0025142	Constitutional symptom	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant			117
HP:0025142	HP:0025142	Constitutional symptom	0	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis			60
HP:0025142	HP:0025142	Constitutional symptom	0	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis			51
HP:0025142	HP:0025142	Constitutional symptom	0	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis			90
HP:0025142	HP:0025142	Constitutional symptom	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type			90
HP:0025142	HP:0025142	Constitutional symptom	0	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect			90
HP:0025142	HP:0025142	Constitutional symptom	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0025142	HP:0025142	Constitutional symptom	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0025142	HP:0025142	Constitutional symptom	0	NLRC4 CL E G H	58484	16412	OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4			30
HP:0025142	HP:0025142	Constitutional symptom	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0025142	HP:0025142	Constitutional symptom	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0025142	HP:0025142	Constitutional symptom	0	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation			217
HP:0025142	HP:0025142	Constitutional symptom	0	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0025142	HP:0025142	Constitutional symptom	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria			217
HP:0025142	HP:0025142	Constitutional symptom	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0025142	HP:0025142	Constitutional symptom	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0025142	HP:0025142	Constitutional symptom	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0025142	HP:0025142	Constitutional symptom	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0025142	HP:0025142	Constitutional symptom	0	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease			187
HP:0025142	HP:0025142	Constitutional symptom	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0025142	HP:0025142	Constitutional symptom	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0025142	HP:0025142	Constitutional symptom	0	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia			2
HP:0025142	HP:0025142	Constitutional symptom	0	NOS1AP CL E G H	9722	16859	ORPHA:101016	Romano-Ward syndrome			4
HP:0025142	HP:0025142	Constitutional symptom	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0025142	HP:0025142	Constitutional symptom	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0025142	HP:0025142	Constitutional symptom	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0025142	HP:0025142	Constitutional symptom	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy			144
HP:0025142	HP:0025142	Constitutional symptom	0	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			241
HP:0025142	HP:0025142	Constitutional symptom	0	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			69
HP:0025142	HP:0025142	Constitutional symptom	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0025142	HP:0025142	Constitutional symptom	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill			13
HP:0025142	HP:0025142	Constitutional symptom	0	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci			4
HP:0025142	HP:0025142	Constitutional symptom	0	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci			7
HP:0025142	HP:0025142	Constitutional symptom	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0025142	HP:0025142	Constitutional symptom	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome			79
HP:0025142	HP:0025142	Constitutional symptom	0	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized			79
HP:0025142	HP:0025142	Constitutional symptom	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0025142	HP:0025142	Constitutional symptom	0	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease			4
HP:0025142	HP:0025142	Constitutional symptom	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0025142	HP:0025142	Constitutional symptom	0	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements
HP:0025142	HP:0025142	Constitutional symptom	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0025142	HP:0025142	Constitutional symptom	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0025142	HP:0025142	Constitutional symptom	0	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0025142	HP:0025142	Constitutional symptom	0	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0025142	HP:0025142	Constitutional symptom	0	NUP155 CL E G H	9631	8063	OMIM:615770	Atrial fibrillation, familial, 15			1
HP:0025142	HP:0025142	Constitutional symptom	0	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0025142	HP:0025142	Constitutional symptom	0	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0025142	HP:0025142	Constitutional symptom	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0025142	HP:0025142	Constitutional symptom	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0025142	HP:0025142	Constitutional symptom	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract			163
HP:0025142	HP:0025142	Constitutional symptom	0	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency			5
HP:0025142	HP:0025142	Constitutional symptom	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0025142	HP:0025142	Constitutional symptom	0	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy			19
HP:0025142	HP:0025142	Constitutional symptom	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0025142	HP:0025142	Constitutional symptom	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0025142	HP:0025142	Constitutional symptom	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0025142	HP:0025142	Constitutional symptom	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0025142	HP:0025142	Constitutional symptom	0	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0025142	HP:0025142	Constitutional symptom	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0025142	HP:0025142	Constitutional symptom	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0025142	HP:0025142	Constitutional symptom	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0025142	HP:0025142	Constitutional symptom	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1			55
HP:0025142	HP:0025142	Constitutional symptom	0	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			39
HP:0025142	HP:0025142	Constitutional symptom	0	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis			63
HP:0025142	HP:0025142	Constitutional symptom	0	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia			63
HP:0025142	HP:0025142	Constitutional symptom	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia			178
HP:0025142	HP:0025142	Constitutional symptom	0	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to			1
HP:0025142	HP:0025142	Constitutional symptom	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1			9
HP:0025142	HP:0025142	Constitutional symptom	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0025142	HP:0025142	Constitutional symptom	0	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor			337
HP:0025142	HP:0025142	Constitutional symptom	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic			337
HP:0025142	HP:0025142	Constitutional symptom	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1			28
HP:0025142	HP:0025142	Constitutional symptom	0	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0025142	HP:0025142	Constitutional symptom	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII			64
HP:0025142	HP:0025142	Constitutional symptom	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis			6
HP:0025142	HP:0025142	Constitutional symptom	0	PGAM2 CL E G H	5224	8889	OMIM:261670	Phosphoglycerate mutase, muscle, deficiency of			26
HP:0025142	HP:0025142	Constitutional symptom	0	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0025142	HP:0025142	Constitutional symptom	0	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0025142	HP:0025142	Constitutional symptom	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0025142	HP:0025142	Constitutional symptom	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0025142	HP:0025142	Constitutional symptom	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0025142	HP:0025142	Constitutional symptom	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0025142	HP:0025142	Constitutional symptom	0	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked			54
HP:0025142	HP:0025142	Constitutional symptom	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0025142	HP:0025142	Constitutional symptom	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa			54
HP:0025142	HP:0025142	Constitutional symptom	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0025142	HP:0025142	Constitutional symptom	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0025142	HP:0025142	Constitutional symptom	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0025142	HP:0025142	Constitutional symptom	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0025142	HP:0025142	Constitutional symptom	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0025142	HP:0025142	Constitutional symptom	0	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2			12
HP:0025142	HP:0025142	Constitutional symptom	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0025142	HP:0025142	Constitutional symptom	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0025142	HP:0025142	Constitutional symptom	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0025142	HP:0025142	Constitutional symptom	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0025142	HP:0025142	Constitutional symptom	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0025142	HP:0025142	Constitutional symptom	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease			342
HP:0025142	HP:0025142	Constitutional symptom	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease			106
HP:0025142	HP:0025142	Constitutional symptom	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0025142	HP:0025142	Constitutional symptom	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0025142	HP:0025142	Constitutional symptom	0	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9			406
HP:0025142	HP:0025142	Constitutional symptom	0	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			118
HP:0025142	HP:0025142	Constitutional symptom	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated			21
HP:0025142	HP:0025142	Constitutional symptom	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0025142	HP:0025142	Constitutional symptom	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0025142	HP:0025142	Constitutional symptom	0	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0025142	HP:0025142	Constitutional symptom	0	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18			57
HP:0025142	HP:0025142	Constitutional symptom	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2			60
HP:0025142	HP:0025142	Constitutional symptom	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0025142	HP:0025142	Constitutional symptom	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A			79
HP:0025142	HP:0025142	Constitutional symptom	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0025142	HP:0025142	Constitutional symptom	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0025142	HP:0025142	Constitutional symptom	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0025142	HP:0025142	Constitutional symptom	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0025142	HP:0025142	Constitutional symptom	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0025142	HP:0025142	Constitutional symptom	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis			3
HP:0025142	HP:0025142	Constitutional symptom	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0025142	HP:0025142	Constitutional symptom	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism			6
HP:0025142	HP:0025142	Constitutional symptom	0	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature			1129
HP:0025142	HP:0025142	Constitutional symptom	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0025142	HP:0025142	Constitutional symptom	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			464
HP:0025142	HP:0025142	Constitutional symptom	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0025142	HP:0025142	Constitutional symptom	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0025142	HP:0025142	Constitutional symptom	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0025142	HP:0025142	Constitutional symptom	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0025142	HP:0025142	Constitutional symptom	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0025142	HP:0025142	Constitutional symptom	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0025142	HP:0025142	Constitutional symptom	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0025142	HP:0025142	Constitutional symptom	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0025142	HP:0025142	Constitutional symptom	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0025142	HP:0025142	Constitutional symptom	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0025142	HP:0025142	Constitutional symptom	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0025142	HP:0025142	Constitutional symptom	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0025142	HP:0025142	Constitutional symptom	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3			180
HP:0025142	HP:0025142	Constitutional symptom	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0025142	HP:0025142	Constitutional symptom	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			213
HP:0025142	HP:0025142	Constitutional symptom	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0025142	HP:0025142	Constitutional symptom	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0025142	HP:0025142	Constitutional symptom	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis			2
HP:0025142	HP:0025142	Constitutional symptom	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0025142	HP:0025142	Constitutional symptom	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0025142	HP:0025142	Constitutional symptom	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0025142	HP:0025142	Constitutional symptom	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0025142	HP:0025142	Constitutional symptom	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0025142	HP:0025142	Constitutional symptom	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma			2
HP:0025142	HP:0025142	Constitutional symptom	0	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile			8
HP:0025142	HP:0025142	Constitutional symptom	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0025142	HP:0025142	Constitutional symptom	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0025142	HP:0025142	Constitutional symptom	0	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata			41
HP:0025142	HP:0025142	Constitutional symptom	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0025142	HP:0025142	Constitutional symptom	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0025142	HP:0025142	Constitutional symptom	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0025142	HP:0025142	Constitutional symptom	0	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2			58
HP:0025142	HP:0025142	Constitutional symptom	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10			1
HP:0025142	HP:0025142	Constitutional symptom	0	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome			7
HP:0025142	HP:0025142	Constitutional symptom	0	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6			235
HP:0025142	HP:0025142	Constitutional symptom	0	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME			235
HP:0025142	HP:0025142	Constitutional symptom	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0025142	HP:0025142	Constitutional symptom	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma			134
HP:0025142	HP:0025142	Constitutional symptom	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0025142	HP:0025142	Constitutional symptom	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0025142	HP:0025142	Constitutional symptom	0	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease			63
HP:0025142	HP:0025142	Constitutional symptom	0	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts			63
HP:0025142	HP:0025142	Constitutional symptom	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			41
HP:0025142	HP:0025142	Constitutional symptom	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16			37
HP:0025142	HP:0025142	Constitutional symptom	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16			37
HP:0025142	HP:0025142	Constitutional symptom	0	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease			69
HP:0025142	HP:0025142	Constitutional symptom	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0025142	HP:0025142	Constitutional symptom	0	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency			65
HP:0025142	HP:0025142	Constitutional symptom	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0025142	HP:0025142	Constitutional symptom	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0025142	HP:0025142	Constitutional symptom	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0025142	HP:0025142	Constitutional symptom	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism			54
HP:0025142	HP:0025142	Constitutional symptom	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0025142	HP:0025142	Constitutional symptom	0	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency			75
HP:0025142	HP:0025142	Constitutional symptom	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis			25
HP:0025142	HP:0025142	Constitutional symptom	0	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis			51
HP:0025142	HP:0025142	Constitutional symptom	0	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary			51
HP:0025142	HP:0025142	Constitutional symptom	0	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis			1
HP:0025142	HP:0025142	Constitutional symptom	0	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary			1
HP:0025142	HP:0025142	Constitutional symptom	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0025142	HP:0025142	Constitutional symptom	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0025142	HP:0025142	Constitutional symptom	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency			81
HP:0025142	HP:0025142	Constitutional symptom	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0025142	HP:0025142	Constitutional symptom	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0025142	HP:0025142	Constitutional symptom	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0025142	HP:0025142	Constitutional symptom	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0025142	HP:0025142	Constitutional symptom	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0025142	HP:0025142	Constitutional symptom	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0025142	HP:0025142	Constitutional symptom	0	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome			96
HP:0025142	HP:0025142	Constitutional symptom	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0025142	HP:0025142	Constitutional symptom	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0025142	HP:0025142	Constitutional symptom	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome			58
HP:0025142	HP:0025142	Constitutional symptom	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease			58
HP:0025142	HP:0025142	Constitutional symptom	0	PTPN11 CL E G H	5781	9644	ORPHA:2499	Metachondromatosis			291
HP:0025142	HP:0025142	Constitutional symptom	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0025142	HP:0025142	Constitutional symptom	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0025142	HP:0025142	Constitutional symptom	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0025142	HP:0025142	Constitutional symptom	0	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0025142	HP:0025142	Constitutional symptom	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0025142	HP:0025142	Constitutional symptom	0	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma			1
HP:0025142	HP:0025142	Constitutional symptom	0	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			2
HP:0025142	HP:0025142	Constitutional symptom	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0025142	HP:0025142	Constitutional symptom	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0025142	HP:0025142	Constitutional symptom	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency			166
HP:0025142	HP:0025142	Constitutional symptom	0	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V			166
HP:0025142	HP:0025142	Constitutional symptom	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0025142	HP:0025142	Constitutional symptom	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0025142	HP:0025142	Constitutional symptom	0	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome			25
HP:0025142	HP:0025142	Constitutional symptom	0	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements			9
HP:0025142	HP:0025142	Constitutional symptom	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0025142	HP:0025142	Constitutional symptom	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0025142	HP:0025142	Constitutional symptom	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome			88
HP:0025142	HP:0025142	Constitutional symptom	0	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma			365
HP:0025142	HP:0025142	Constitutional symptom	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0025142	HP:0025142	Constitutional symptom	0	RBM20 CL E G H	282996	27424	OMIM:613172	Cardiomyopathy, dilated, 1dd			363
HP:0025142	HP:0025142	Constitutional symptom	0	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72			3
HP:0025142	HP:0025142	Constitutional symptom	0	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma			1
HP:0025142	HP:0025142	Constitutional symptom	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma			7
HP:0025142	HP:0025142	Constitutional symptom	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0025142	HP:0025142	Constitutional symptom	0	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease			572
HP:0025142	HP:0025142	Constitutional symptom	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA			572
HP:0025142	HP:0025142	Constitutional symptom	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0025142	HP:0025142	Constitutional symptom	0	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB			54
HP:0025142	HP:0025142	Constitutional symptom	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0025142	HP:0025142	Constitutional symptom	0	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0025142	HP:0025142	Constitutional symptom	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0025142	HP:0025142	Constitutional symptom	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2			3
HP:0025142	HP:0025142	Constitutional symptom	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0025142	HP:0025142	Constitutional symptom	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0025142	HP:0025142	Constitutional symptom	0	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus			3
HP:0025142	HP:0025142	Constitutional symptom	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome			15
HP:0025142	HP:0025142	Constitutional symptom	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0025142	HP:0025142	Constitutional symptom	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0025142	HP:0025142	Constitutional symptom	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0025142	HP:0025142	Constitutional symptom	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0025142	HP:0025142	Constitutional symptom	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0025142	HP:0025142	Constitutional symptom	0	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11			58
HP:0025142	HP:0025142	Constitutional symptom	0	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0025142	HP:0025142	Constitutional symptom	0	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70			2
HP:0025142	HP:0025142	Constitutional symptom	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12			25
HP:0025142	HP:0025142	Constitutional symptom	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant			25
HP:0025142	HP:0025142	Constitutional symptom	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		181
HP:0025142	HP:0025142	Constitutional symptom	0	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia			181
HP:0025142	HP:0025142	Constitutional symptom	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0025142	HP:0025142	Constitutional symptom	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0025142	HP:0025142	Constitutional symptom	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0025142	HP:0025142	Constitutional symptom	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0025142	HP:0025142	Constitutional symptom	0	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2			1103
HP:0025142	HP:0025142	Constitutional symptom	0	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA			1103
HP:0025142	HP:0025142	Constitutional symptom	0	RYR2 CL E G H	6262	10484	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			1103
HP:0025142	HP:0025142	Constitutional symptom	0	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			1103
HP:0025142	HP:0025142	Constitutional symptom	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis			2
HP:0025142	HP:0025142	Constitutional symptom	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0025142	HP:0025142	Constitutional symptom	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0025142	HP:0025142	Constitutional symptom	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0025142	HP:0025142	Constitutional symptom	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0025142	HP:0025142	Constitutional symptom	0	SCN10A CL E G H	6336	10582	ORPHA:101016	Romano-Ward syndrome			146
HP:0025142	HP:0025142	Constitutional symptom	0	SCN11A CL E G H	11280	10583	OMIM:615552	Episodic pain syndrome, familial, 3			19
HP:0025142	HP:0025142	Constitutional symptom	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0025142	HP:0025142	Constitutional symptom	0	SCN1B CL E G H	6324	10586	ORPHA:871	Familial progressive cardiac conduction defect			126
HP:0025142	HP:0025142	Constitutional symptom	0	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia			263
HP:0025142	HP:0025142	Constitutional symptom	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis			263
HP:0025142	HP:0025142	Constitutional symptom	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans			263
HP:0025142	HP:0025142	Constitutional symptom	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens			263
HP:0025142	HP:0025142	Constitutional symptom	0	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated			263
HP:0025142	HP:0025142	Constitutional symptom	0	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg			263
HP:0025142	HP:0025142	Constitutional symptom	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg			263
HP:0025142	HP:0025142	Constitutional symptom	0	SCN4B CL E G H	6330	10592	OMIM:611819	Long QT syndrome 10			110
HP:0025142	HP:0025142	Constitutional symptom	0	SCN4B CL E G H	6330	10592	ORPHA:101016	Romano-Ward syndrome			110
HP:0025142	HP:0025142	Constitutional symptom	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill			1134
HP:0025142	HP:0025142	Constitutional symptom	0	SCN5A CL E G H	6331	10593	OMIM:601144	BRUGADA SYNDROME 1; BRGDA1			1134
HP:0025142	HP:0025142	Constitutional symptom	0	SCN5A CL E G H	6331	10593	ORPHA:871	Familial progressive cardiac conduction defect			1134
HP:0025142	HP:0025142	Constitutional symptom	0	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3			1134
HP:0025142	HP:0025142	Constitutional symptom	0	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA			1134
HP:0025142	HP:0025142	Constitutional symptom	0	SCN5A CL E G H	6331	10593	ORPHA:101016	Romano-Ward syndrome			1134
HP:0025142	HP:0025142	Constitutional symptom	0	SCN5A CL E G H	6331	10593	OMIM:272120	Sudden infant death syndrome			1134
HP:0025142	HP:0025142	Constitutional symptom	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13			357
HP:0025142	HP:0025142	Constitutional symptom	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary			318
HP:0025142	HP:0025142	Constitutional symptom	0	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive			318
HP:0025142	HP:0025142	Constitutional symptom	0	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder			318
HP:0025142	HP:0025142	Constitutional symptom	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis			67
HP:0025142	HP:0025142	Constitutional symptom	0	SCNN1A CL E G H	6337	10599	ORPHA:526	Liddle syndrome			67
HP:0025142	HP:0025142	Constitutional symptom	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis			61
HP:0025142	HP:0025142	Constitutional symptom	0	SCNN1B CL E G H	6338	10600	ORPHA:526	Liddle syndrome			61
HP:0025142	HP:0025142	Constitutional symptom	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis			57
HP:0025142	HP:0025142	Constitutional symptom	0	SCNN1G CL E G H	6340	10602	ORPHA:526	Liddle syndrome			57
HP:0025142	HP:0025142	Constitutional symptom	0	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor			304
HP:0025142	HP:0025142	Constitutional symptom	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0025142	HP:0025142	Constitutional symptom	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0025142	HP:0025142	Constitutional symptom	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0025142	HP:0025142	Constitutional symptom	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0025142	HP:0025142	Constitutional symptom	0	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome			237
HP:0025142	HP:0025142	Constitutional symptom	0	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor			237
HP:0025142	HP:0025142	Constitutional symptom	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0025142	HP:0025142	Constitutional symptom	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0025142	HP:0025142	Constitutional symptom	0	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome			147
HP:0025142	HP:0025142	Constitutional symptom	0	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor			147
HP:0025142	HP:0025142	Constitutional symptom	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0025142	HP:0025142	Constitutional symptom	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome			129
HP:0025142	HP:0025142	Constitutional symptom	0	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome			129
HP:0025142	HP:0025142	Constitutional symptom	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0025142	HP:0025142	Constitutional symptom	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0025142	HP:0025142	Constitutional symptom	0	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis			2
HP:0025142	HP:0025142	Constitutional symptom	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease			137
HP:0025142	HP:0025142	Constitutional symptom	0	SELENBP1 CL E G H	8991	10719	OMIM:618148	Extraoral halitosis due to MTO deficiency
HP:0025142	HP:0025142	Constitutional symptom	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0025142	HP:0025142	Constitutional symptom	0	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease			1
HP:0025142	HP:0025142	Constitutional symptom	0	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease			2
HP:0025142	HP:0025142	Constitutional symptom	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0025142	HP:0025142	Constitutional symptom	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0025142	HP:0025142	Constitutional symptom	0	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy
HP:0025142	HP:0025142	Constitutional symptom	0	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency			4
HP:0025142	HP:0025142	Constitutional symptom	0	SERPINF2 CL E G H	5345	9075	ORPHA:79	Congenital alpha2-antiplasmin deficiency			8
HP:0025142	HP:0025142	Constitutional symptom	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1			64
HP:0025142	HP:0025142	Constitutional symptom	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1			64
HP:0025142	HP:0025142	Constitutional symptom	0	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma			19
HP:0025142	HP:0025142	Constitutional symptom	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease			3
HP:0025142	HP:0025142	Constitutional symptom	0	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L			223
HP:0025142	HP:0025142	Constitutional symptom	0	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1			4
HP:0025142	HP:0025142	Constitutional symptom	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia			4
HP:0025142	HP:0025142	Constitutional symptom	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0025142	HP:0025142	Constitutional symptom	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0025142	HP:0025142	Constitutional symptom	0	SI CL E G H	6476	10856	ORPHA:35122	Congenital sucrase-isomaltase deficiency			98
HP:0025142	HP:0025142	Constitutional symptom	0	SI CL E G H	6476	10856	OMIM:222900	Sucrase-isomaltase deficiency, congenital			98
HP:0025142	HP:0025142	Constitutional symptom	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0025142	HP:0025142	Constitutional symptom	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0025142	HP:0025142	Constitutional symptom	0	SLC11A1 CL E G H	6556	10907	ORPHA:3389	Tuberculosis			2
HP:0025142	HP:0025142	Constitutional symptom	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0025142	HP:0025142	Constitutional symptom	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0025142	HP:0025142	Constitutional symptom	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease			2
HP:0025142	HP:0025142	Constitutional symptom	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0025142	HP:0025142	Constitutional symptom	0	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic			2
HP:0025142	HP:0025142	Constitutional symptom	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0025142	HP:0025142	Constitutional symptom	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1			70
HP:0025142	HP:0025142	Constitutional symptom	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia			56
HP:0025142	HP:0025142	Constitutional symptom	0	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0025142	HP:0025142	Constitutional symptom	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0025142	HP:0025142	Constitutional symptom	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0025142	HP:0025142	Constitutional symptom	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0025142	HP:0025142	Constitutional symptom	0	SLC25A32 CL E G H	81034	29683	OMIM:616839	EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE; RREI			3
HP:0025142	HP:0025142	Constitutional symptom	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0025142	HP:0025142	Constitutional symptom	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0025142	HP:0025142	Constitutional symptom	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2			68
HP:0025142	HP:0025142	Constitutional symptom	0	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4			166
HP:0025142	HP:0025142	Constitutional symptom	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0025142	HP:0025142	Constitutional symptom	0	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis			274
HP:0025142	HP:0025142	Constitutional symptom	0	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia			274
HP:0025142	HP:0025142	Constitutional symptom	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy			255
HP:0025142	HP:0025142	Constitutional symptom	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0025142	HP:0025142	Constitutional symptom	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia			57
HP:0025142	HP:0025142	Constitutional symptom	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			47
HP:0025142	HP:0025142	Constitutional symptom	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0025142	HP:0025142	Constitutional symptom	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0025142	HP:0025142	Constitutional symptom	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			52
HP:0025142	HP:0025142	Constitutional symptom	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0025142	HP:0025142	Constitutional symptom	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0025142	HP:0025142	Constitutional symptom	0	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome			55
HP:0025142	HP:0025142	Constitutional symptom	0	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4			56
HP:0025142	HP:0025142	Constitutional symptom	0	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0025142	HP:0025142	Constitutional symptom	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0025142	HP:0025142	Constitutional symptom	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0025142	HP:0025142	Constitutional symptom	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0025142	HP:0025142	Constitutional symptom	0	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0025142	HP:0025142	Constitutional symptom	0	SLC4A3 CL E G H	6508	11029	ORPHA:51083	Familial short QT syndrome			7
HP:0025142	HP:0025142	Constitutional symptom	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0025142	HP:0025142	Constitutional symptom	0	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant			13
HP:0025142	HP:0025142	Constitutional symptom	0	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2			13
HP:0025142	HP:0025142	Constitutional symptom	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0025142	HP:0025142	Constitutional symptom	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			7
HP:0025142	HP:0025142	Constitutional symptom	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0025142	HP:0025142	Constitutional symptom	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0025142	HP:0025142	Constitutional symptom	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			260
HP:0025142	HP:0025142	Constitutional symptom	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0025142	HP:0025142	Constitutional symptom	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0025142	HP:0025142	Constitutional symptom	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			504
HP:0025142	HP:0025142	Constitutional symptom	0	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome			504
HP:0025142	HP:0025142	Constitutional symptom	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0025142	HP:0025142	Constitutional symptom	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0025142	HP:0025142	Constitutional symptom	0	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease			22
HP:0025142	HP:0025142	Constitutional symptom	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0025142	HP:0025142	Constitutional symptom	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0025142	HP:0025142	Constitutional symptom	0	SNTA1 CL E G H	6640	11167	ORPHA:101016	Romano-Ward syndrome			118
HP:0025142	HP:0025142	Constitutional symptom	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0025142	HP:0025142	Constitutional symptom	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis			53
HP:0025142	HP:0025142	Constitutional symptom	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0025142	HP:0025142	Constitutional symptom	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0025142	HP:0025142	Constitutional symptom	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome			61
HP:0025142	HP:0025142	Constitutional symptom	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0025142	HP:0025142	Constitutional symptom	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism			24
HP:0025142	HP:0025142	Constitutional symptom	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0025142	HP:0025142	Constitutional symptom	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0025142	HP:0025142	Constitutional symptom	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile			287
HP:0025142	HP:0025142	Constitutional symptom	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0025142	HP:0025142	Constitutional symptom	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0025142	HP:0025142	Constitutional symptom	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0025142	HP:0025142	Constitutional symptom	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7			171
HP:0025142	HP:0025142	Constitutional symptom	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0025142	HP:0025142	Constitutional symptom	0	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis			34
HP:0025142	HP:0025142	Constitutional symptom	0	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary			34
HP:0025142	HP:0025142	Constitutional symptom	0	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis			34
HP:0025142	HP:0025142	Constitutional symptom	0	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0025142	HP:0025142	Constitutional symptom	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0025142	HP:0025142	Constitutional symptom	0	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0025142	HP:0025142	Constitutional symptom	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0025142	HP:0025142	Constitutional symptom	0	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0025142	HP:0025142	Constitutional symptom	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0025142	HP:0025142	Constitutional symptom	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0025142	HP:0025142	Constitutional symptom	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			54
HP:0025142	HP:0025142	Constitutional symptom	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0025142	HP:0025142	Constitutional symptom	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			149
HP:0025142	HP:0025142	Constitutional symptom	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0025142	HP:0025142	Constitutional symptom	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset			62
HP:0025142	HP:0025142	Constitutional symptom	0	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3			62
HP:0025142	HP:0025142	Constitutional symptom	0	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease			1
HP:0025142	HP:0025142	Constitutional symptom	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0025142	HP:0025142	Constitutional symptom	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		1
HP:0025142	HP:0025142	Constitutional symptom	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0025142	HP:0025142	Constitutional symptom	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0025142	HP:0025142	Constitutional symptom	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0025142	HP:0025142	Constitutional symptom	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0025142	HP:0025142	Constitutional symptom	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0025142	HP:0025142	Constitutional symptom	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0025142	HP:0025142	Constitutional symptom	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0025142	HP:0025142	Constitutional symptom	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0025142	HP:0025142	Constitutional symptom	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0025142	HP:0025142	Constitutional symptom	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0025142	HP:0025142	Constitutional symptom	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0025142	HP:0025142	Constitutional symptom	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome			31
HP:0025142	HP:0025142	Constitutional symptom	0	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy			31
HP:0025142	HP:0025142	Constitutional symptom	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0025142	HP:0025142	Constitutional symptom	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome			740
HP:0025142	HP:0025142	Constitutional symptom	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome			740
HP:0025142	HP:0025142	Constitutional symptom	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0025142	HP:0025142	Constitutional symptom	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0025142	HP:0025142	Constitutional symptom	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0025142	HP:0025142	Constitutional symptom	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0025142	HP:0025142	Constitutional symptom	0	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis			4
HP:0025142	HP:0025142	Constitutional symptom	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0025142	HP:0025142	Constitutional symptom	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0025142	HP:0025142	Constitutional symptom	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0025142	HP:0025142	Constitutional symptom	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0025142	HP:0025142	Constitutional symptom	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0025142	HP:0025142	Constitutional symptom	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0025142	HP:0025142	Constitutional symptom	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism			9
HP:0025142	HP:0025142	Constitutional symptom	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome			11
HP:0025142	HP:0025142	Constitutional symptom	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis
HP:0025142	HP:0025142	Constitutional symptom	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis			65
HP:0025142	HP:0025142	Constitutional symptom	0	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0025142	HP:0025142	Constitutional symptom	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0025142	HP:0025142	Constitutional symptom	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0025142	HP:0025142	Constitutional symptom	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0025142	HP:0025142	Constitutional symptom	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis			20
HP:0025142	HP:0025142	Constitutional symptom	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0025142	HP:0025142	Constitutional symptom	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0025142	HP:0025142	Constitutional symptom	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0025142	HP:0025142	Constitutional symptom	0	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2			5
HP:0025142	HP:0025142	Constitutional symptom	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency			57
HP:0025142	HP:0025142	Constitutional symptom	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type			20
HP:0025142	HP:0025142	Constitutional symptom	0	TBX5 CL E G H	6910	11604	ORPHA:101016	Romano-Ward syndrome			123
HP:0025142	HP:0025142	Constitutional symptom	0	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5			19
HP:0025142	HP:0025142	Constitutional symptom	0	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0025142	HP:0025142	Constitutional symptom	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0025142	HP:0025142	Constitutional symptom	0	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0025142	HP:0025142	Constitutional symptom	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0025142	HP:0025142	Constitutional symptom	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia			82
HP:0025142	HP:0025142	Constitutional symptom	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0025142	HP:0025142	Constitutional symptom	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0025142	HP:0025142	Constitutional symptom	0	TECRL CL E G H	253017	27365	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			4
HP:0025142	HP:0025142	Constitutional symptom	0	TECRL CL E G H	253017	27365	OMIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3			4
HP:0025142	HP:0025142	Constitutional symptom	0	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus			78
HP:0025142	HP:0025142	Constitutional symptom	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma			238
HP:0025142	HP:0025142	Constitutional symptom	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0025142	HP:0025142	Constitutional symptom	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		3
HP:0025142	HP:0025142	Constitutional symptom	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia			3
HP:0025142	HP:0025142	Constitutional symptom	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0025142	HP:0025142	Constitutional symptom	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		3
HP:0025142	HP:0025142	Constitutional symptom	0	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia			3
HP:0025142	HP:0025142	Constitutional symptom	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0025142	HP:0025142	Constitutional symptom	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3			67
HP:0025142	HP:0025142	Constitutional symptom	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0025142	HP:0025142	Constitutional symptom	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0025142	HP:0025142	Constitutional symptom	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			162
HP:0025142	HP:0025142	Constitutional symptom	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0025142	HP:0025142	Constitutional symptom	0	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1			85
HP:0025142	HP:0025142	Constitutional symptom	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			85
HP:0025142	HP:0025142	Constitutional symptom	0	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I			58
HP:0025142	HP:0025142	Constitutional symptom	0	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0025142	HP:0025142	Constitutional symptom	0	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy			58
HP:0025142	HP:0025142	Constitutional symptom	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			239
HP:0025142	HP:0025142	Constitutional symptom	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			253
HP:0025142	HP:0025142	Constitutional symptom	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0025142	HP:0025142	Constitutional symptom	0	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus			253
HP:0025142	HP:0025142	Constitutional symptom	0	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis			98
HP:0025142	HP:0025142	Constitutional symptom	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0025142	HP:0025142	Constitutional symptom	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0025142	HP:0025142	Constitutional symptom	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0025142	HP:0025142	Constitutional symptom	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis			6
HP:0025142	HP:0025142	Constitutional symptom	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0025142	HP:0025142	Constitutional symptom	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0025142	HP:0025142	Constitutional symptom	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			103
HP:0025142	HP:0025142	Constitutional symptom	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0025142	HP:0025142	Constitutional symptom	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0025142	HP:0025142	Constitutional symptom	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type			6
HP:0025142	HP:0025142	Constitutional symptom	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis			3
HP:0025142	HP:0025142	Constitutional symptom	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0025142	HP:0025142	Constitutional symptom	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0025142	HP:0025142	Constitutional symptom	0	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29			4
HP:0025142	HP:0025142	Constitutional symptom	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0025142	HP:0025142	Constitutional symptom	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5			171
HP:0025142	HP:0025142	Constitutional symptom	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0025142	HP:0025142	Constitutional symptom	0	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis			72
HP:0025142	HP:0025142	Constitutional symptom	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0025142	HP:0025142	Constitutional symptom	0	TNFRSF11B CL E G H	4982	11909	ORPHA:1416	Familial calcium pyrophosphate deposition			44
HP:0025142	HP:0025142	Constitutional symptom	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0025142	HP:0025142	Constitutional symptom	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0025142	HP:0025142	Constitutional symptom	0	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis			131
HP:0025142	HP:0025142	Constitutional symptom	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0025142	HP:0025142	Constitutional symptom	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0025142	HP:0025142	Constitutional symptom	0	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0025142	HP:0025142	Constitutional symptom	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0025142	HP:0025142	Constitutional symptom	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0025142	HP:0025142	Constitutional symptom	0	TNNC1 CL E G H	7134	11943	OMIM:611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z			73
HP:0025142	HP:0025142	Constitutional symptom	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13			73
HP:0025142	HP:0025142	Constitutional symptom	0	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1			180
HP:0025142	HP:0025142	Constitutional symptom	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D			248
HP:0025142	HP:0025142	Constitutional symptom	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis			71
HP:0025142	HP:0025142	Constitutional symptom	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1			134
HP:0025142	HP:0025142	Constitutional symptom	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like			134
HP:0025142	HP:0025142	Constitutional symptom	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0025142	HP:0025142	Constitutional symptom	0	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0025142	HP:0025142	Constitutional symptom	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma			911
HP:0025142	HP:0025142	Constitutional symptom	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia			911
HP:0025142	HP:0025142	Constitutional symptom	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0025142	HP:0025142	Constitutional symptom	0	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma			911
HP:0025142	HP:0025142	Constitutional symptom	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy			140
HP:0025142	HP:0025142	Constitutional symptom	0	TPM1 CL E G H	7168	12010	OMIM:115196	Cardiomyopathy, familial hypertrophic, 3			230
HP:0025142	HP:0025142	Constitutional symptom	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0025142	HP:0025142	Constitutional symptom	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0025142	HP:0025142	Constitutional symptom	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0025142	HP:0025142	Constitutional symptom	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0025142	HP:0025142	Constitutional symptom	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis			2
HP:0025142	HP:0025142	Constitutional symptom	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0025142	HP:0025142	Constitutional symptom	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome			27
HP:0025142	HP:0025142	Constitutional symptom	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0025142	HP:0025142	Constitutional symptom	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0025142	HP:0025142	Constitutional symptom	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0025142	HP:0025142	Constitutional symptom	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked			46
HP:0025142	HP:0025142	Constitutional symptom	0	TRDN CL E G H	10345	12261	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			145
HP:0025142	HP:0025142	Constitutional symptom	0	TRDN CL E G H	10345	12261	ORPHA:101016	Romano-Ward syndrome			145
HP:0025142	HP:0025142	Constitutional symptom	0	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			145
HP:0025142	HP:0025142	Constitutional symptom	0	TREH CL E G H	11181	12266	OMIM:612119	Trehalase deficiency			2
HP:0025142	HP:0025142	Constitutional symptom	0	TREH CL E G H	11181	12266	ORPHA:103909	Trehalase deficiency			2
HP:0025142	HP:0025142	Constitutional symptom	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0025142	HP:0025142	Constitutional symptom	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0025142	HP:0025142	Constitutional symptom	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0025142	HP:0025142	Constitutional symptom	0	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1			56
HP:0025142	HP:0025142	Constitutional symptom	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0025142	HP:0025142	Constitutional symptom	0	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7			2
HP:0025142	HP:0025142	Constitutional symptom	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome			2
HP:0025142	HP:0025142	Constitutional symptom	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma			2
HP:0025142	HP:0025142	Constitutional symptom	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H			108
HP:0025142	HP:0025142	Constitutional symptom	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0025142	HP:0025142	Constitutional symptom	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0025142	HP:0025142	Constitutional symptom	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma			2
HP:0025142	HP:0025142	Constitutional symptom	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0025142	HP:0025142	Constitutional symptom	0	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0025142	HP:0025142	Constitutional symptom	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0025142	HP:0025142	Constitutional symptom	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0025142	HP:0025142	Constitutional symptom	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0025142	HP:0025142	Constitutional symptom	0	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0025142	HP:0025142	Constitutional symptom	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0025142	HP:0025142	Constitutional symptom	0	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0025142	HP:0025142	Constitutional symptom	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0025142	HP:0025142	Constitutional symptom	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0025142	HP:0025142	Constitutional symptom	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0025142	HP:0025142	Constitutional symptom	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0025142	HP:0025142	Constitutional symptom	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0025142	HP:0025142	Constitutional symptom	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0025142	HP:0025142	Constitutional symptom	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0025142	HP:0025142	Constitutional symptom	0	TRPA1 CL E G H	8989	497	OMIM:615040	Episodic pain syndrome, familial, 1			1
HP:0025142	HP:0025142	Constitutional symptom	0	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			107
HP:0025142	HP:0025142	Constitutional symptom	0	TRPM4 CL E G H	54795	17993	ORPHA:871	Familial progressive cardiac conduction defect			124
HP:0025142	HP:0025142	Constitutional symptom	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0025142	HP:0025142	Constitutional symptom	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0025142	HP:0025142	Constitutional symptom	0	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head			214
HP:0025142	HP:0025142	Constitutional symptom	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0025142	HP:0025142	Constitutional symptom	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0025142	HP:0025142	Constitutional symptom	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0025142	HP:0025142	Constitutional symptom	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0025142	HP:0025142	Constitutional symptom	0	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis			97
HP:0025142	HP:0025142	Constitutional symptom	0	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia			97
HP:0025142	HP:0025142	Constitutional symptom	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0025142	HP:0025142	Constitutional symptom	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome			1
HP:0025142	HP:0025142	Constitutional symptom	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy			7128
HP:0025142	HP:0025142	Constitutional symptom	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0025142	HP:0025142	Constitutional symptom	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0025142	HP:0025142	Constitutional symptom	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0025142	HP:0025142	Constitutional symptom	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0025142	HP:0025142	Constitutional symptom	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0025142	HP:0025142	Constitutional symptom	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0025142	HP:0025142	Constitutional symptom	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0025142	HP:0025142	Constitutional symptom	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0025142	HP:0025142	Constitutional symptom	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0025142	HP:0025142	Constitutional symptom	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0025142	HP:0025142	Constitutional symptom	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0025142	HP:0025142	Constitutional symptom	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0025142	HP:0025142	Constitutional symptom	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0025142	HP:0025142	Constitutional symptom	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0025142	HP:0025142	Constitutional symptom	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0025142	HP:0025142	Constitutional symptom	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0025142	HP:0025142	Constitutional symptom	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0025142	HP:0025142	Constitutional symptom	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0025142	HP:0025142	Constitutional symptom	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis			5
HP:0025142	HP:0025142	Constitutional symptom	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence			111
HP:0025142	HP:0025142	Constitutional symptom	0	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to			111
HP:0025142	HP:0025142	Constitutional symptom	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele			111
HP:0025142	HP:0025142	Constitutional symptom	0	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to			2
HP:0025142	HP:0025142	Constitutional symptom	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis			116
HP:0025142	HP:0025142	Constitutional symptom	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation			63
HP:0025142	HP:0025142	Constitutional symptom	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis			63
HP:0025142	HP:0025142	Constitutional symptom	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1			63
HP:0025142	HP:0025142	Constitutional symptom	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0025142	HP:0025142	Constitutional symptom	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome			63
HP:0025142	HP:0025142	Constitutional symptom	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0025142	HP:0025142	Constitutional symptom	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0025142	HP:0025142	Constitutional symptom	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2			490
HP:0025142	HP:0025142	Constitutional symptom	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0025142	HP:0025142	Constitutional symptom	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0025142	HP:0025142	Constitutional symptom	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0025142	HP:0025142	Constitutional symptom	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0025142	HP:0025142	Constitutional symptom	0	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0025142	HP:0025142	Constitutional symptom	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0025142	HP:0025142	Constitutional symptom	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0025142	HP:0025142	Constitutional symptom	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8			83
HP:0025142	HP:0025142	Constitutional symptom	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant			83
HP:0025142	HP:0025142	Constitutional symptom	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0025142	HP:0025142	Constitutional symptom	0	WNT1 CL E G H	7471	12774	ORPHA:85193	Idiopathic juvenile osteoporosis			12
HP:0025142	HP:0025142	Constitutional symptom	0	WNT3A CL E G H	89780	15983	ORPHA:85193	Idiopathic juvenile osteoporosis
HP:0025142	HP:0025142	Constitutional symptom	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0025142	HP:0025142	Constitutional symptom	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor			177
HP:0025142	HP:0025142	Constitutional symptom	0	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			177
HP:0025142	HP:0025142	Constitutional symptom	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma			177
HP:0025142	HP:0025142	Constitutional symptom	0	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus			149
HP:0025142	HP:0025142	Constitutional symptom	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0025142	HP:0025142	Constitutional symptom	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0025142	HP:0025142	Constitutional symptom	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0025142	HP:0025142	Constitutional symptom	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0025142	HP:0025142	Constitutional symptom	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0025142	HP:0025142	Constitutional symptom	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0025142	HP:0025142	Constitutional symptom	0	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0025142	HP:0025142	Constitutional symptom	0	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0025142	HP:0025142	Constitutional symptom	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0025142	HP:0025142	Constitutional symptom	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0025142	HP:0025142	Constitutional symptom	0	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma
HP:0025142	HP:0025142	Constitutional symptom	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive			189
HP:0025142	HP:0025142	Constitutional symptom	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0025142	HP:0025142	Constitutional symptom	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0025142	HP:0025142	Constitutional symptom	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0025142	HP:0025142	Constitutional symptom	0	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6			2
HP:0025142	HP:0025142	Constitutional symptom	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0025142	HP:0025095	Sneeze	1	CL E G H
HP:0025142	HP:0031217	Hot flashes	1	CL E G H
HP:0025142	HP:0033047	Body ache	1	CL E G H
HP:0025142	HP:0033675	Frailty	1	CL E G H
HP:0025142	HP:0033695	Occupational disability	1	CL E G H
HP:0025142	HP:0033850	Coldness	1	CL E G H
HP:0025142	HP:0012531	Pain	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040283 - Occasional		7
HP:0025142	HP:0012531	Pain	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0025142	HP:0001699	Sudden death	1	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis			130
HP:0025142	HP:0100758	Gangrene	1	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		130
HP:0025142	HP:0012531	Pain	1	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0025142	HP:0012531	Pain	1	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0025142	HP:0012531	Pain	1	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0025142	HP:0012378	Fatigue	1	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040283 - Occasional		119
HP:0025142	HP:0012531	Pain	1	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome			119
HP:0025142	HP:0100758	Gangrene	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare		415
HP:0025142	HP:0012531	Pain	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0025142	HP:0001699	Sudden death	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0025142	HP:0012378	Fatigue	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0025142	HP:0012378	Fatigue	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent		135
HP:0025142	HP:0012531	Pain	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0025142	HP:0012531	Pain	1	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease			135
HP:0025142	HP:0001699	Sudden death	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia			67
HP:0025142	HP:0012531	Pain	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia			67
HP:0025142	HP:0001699	Sudden death	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia			76
HP:0025142	HP:0012531	Pain	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia			76
HP:0025142	HP:0012531	Pain	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0025142	HP:0012378	Fatigue	1	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent		51
HP:0025142	HP:0001699	Sudden death	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0025142	HP:0012531	Pain	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0025142	HP:0003546	Exercise intolerance	1	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency	.		98
HP:0025142	HP:0012378	Fatigue	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		197
HP:0025142	HP:0012531	Pain	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0025142	HP:0012531	Pain	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		200
HP:0025142	HP:0001699	Sudden death	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0025142	HP:0012531	Pain	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0025142	HP:0500001	Body odor	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional		91
HP:0025142	HP:0012531	Pain	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0025142	HP:0003546	Exercise intolerance	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		96
HP:0025142	HP:0012378	Fatigue	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		96
HP:0025142	HP:0012531	Pain	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			94
HP:0025142	HP:0003546	Exercise intolerance	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		208
HP:0025142	HP:0012378	Fatigue	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		208
HP:0025142	HP:0012531	Pain	1	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0025142	HP:0012531	Pain	1	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1			23
HP:0025142	HP:0012531	Pain	1	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			27
HP:0025142	HP:0012531	Pain	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0025142	HP:0012531	Pain	1	ADAMTS19 CL E G H	171019	17111	OMIM:620067				1
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0025142	HP:0012531	Pain	1	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0025142	HP:0003546	Exercise intolerance	1	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.		82
HP:0025142	HP:0012378	Fatigue	1	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.		82
HP:0025142	HP:0100758	Gangrene	1	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.		260
HP:0025142	HP:0012531	Pain	1	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I			260
HP:0025142	HP:0012378	Fatigue	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent		95
HP:0025142	HP:0012531	Pain	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0025142	HP:0012378	Fatigue	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		95
HP:0025142	HP:0001699	Sudden death	1	AKAP9 CL E G H	10142	379	ORPHA:101016	Romano-Ward syndrome			289
HP:0025142	HP:0012531	Pain	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0025142	HP:0031058	Impairment of activities of daily living	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0025142	HP:0001699	Sudden death	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0025142	HP:0012531	Pain	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0025142	HP:0012531	Pain	1	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic			62
HP:0025142	HP:0025406	Asthenia	1	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked			72
HP:0025142	HP:0012378	Fatigue	1	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia	HP:0040281 - Very frequent		72
HP:0025142	HP:0012378	Fatigue	1	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0025142	HP:0012378	Fatigue	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040282 - Frequent		104
HP:0025142	HP:0012531	Pain	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0025142	HP:0003546	Exercise intolerance	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040282 - Frequent		74
HP:0025142	HP:0012378	Fatigue	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0025142	HP:0012531	Pain	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0025142	HP:0012531	Pain	1	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency			50
HP:0025142	HP:0012531	Pain	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0025142	HP:0012531	Pain	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance			73
HP:0025142	HP:0001699	Sudden death	1	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2			3
HP:0025142	HP:0012531	Pain	1	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		93
HP:0025142	HP:0012531	Pain	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0025142	HP:0100758	Gangrene	1	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		75
HP:0025142	HP:0100758	Gangrene	1	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		63
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0025142	HP:0012531	Pain	1	AMPD1 CL E G H	270	468	ORPHA:45	Adenosine monophosphate deaminase deficiency			62
HP:0025142	HP:0012531	Pain	1	AMPD1 CL E G H	270	468	OMIM:615511	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD			62
HP:0025142	HP:0012531	Pain	1	AMPD3 CL E G H	272	470	ORPHA:45	Adenosine monophosphate deaminase deficiency			65
HP:0025142	HP:0100247	Recurrent singultus	1	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.		56
HP:0025142	HP:0012378	Fatigue	1	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		32
HP:0025142	HP:0012531	Pain	1	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		32
HP:0025142	HP:0025143	Chills	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		150
HP:0025142	HP:0012531	Pain	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0025142	HP:0001699	Sudden death	1	ANK2 CL E G H	287	493	OMIM:600919	Cardiac arrhythmia, ankyrin-b-related			539
HP:0025142	HP:0001699	Sudden death	1	ANK2 CL E G H	287	493	ORPHA:101016	Romano-Ward syndrome			539
HP:0025142	HP:0012531	Pain	1	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0025142	HP:0012531	Pain	1	ANKH CL E G H	56172	15492	ORPHA:1416	Familial calcium pyrophosphate deposition			164
HP:0025142	HP:0012531	Pain	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0025142	HP:0012531	Pain	1	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			6
HP:0025142	HP:0012531	Pain	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0025142	HP:0012531	Pain	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L			304
HP:0025142	HP:0012531	Pain	1	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0025142	HP:0012378	Fatigue	1	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0025142	HP:0012378	Fatigue	1	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	HP:0040283 - Occasional		6
HP:0025142	HP:0012531	Pain	1	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III			6
HP:0025142	HP:0031058	Impairment of activities of daily living	1	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48			165
HP:0025142	HP:0031058	Impairment of activities of daily living	1	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive			165
HP:0025142	HP:0012531	Pain	1	APC CL E G H	324	583	ORPHA:873	Desmoid tumor			3179
HP:0025142	HP:0012531	Pain	1	APC CL E G H	324	583	OMIM:619182	GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS			3179
HP:0025142	HP:0012531	Pain	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0025142	HP:0001699	Sudden death	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia			356
HP:0025142	HP:0012531	Pain	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia			356
HP:0025142	HP:0012531	Pain	1	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0025142	HP:0012531	Pain	1	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency			19
HP:0025142	HP:0012531	Pain	1	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency			19
HP:0025142	HP:0012531	Pain	1	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0025142	HP:0012531	Pain	1	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0025142	HP:0012378	Fatigue	1	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2	.		7
HP:0025142	HP:0012378	Fatigue	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0025142	HP:0012531	Pain	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0025142	HP:0012531	Pain	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0025142	HP:0012531	Pain	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0025142	HP:0012531	Pain	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0025142	HP:0012531	Pain	1	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis			2
HP:0025142	HP:0100758	Gangrene	1	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		1
HP:0025142	HP:0012378	Fatigue	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		145
HP:0025142	HP:0012531	Pain	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0025142	HP:0012378	Fatigue	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		145
HP:0025142	HP:0012531	Pain	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0025142	HP:0012531	Pain	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			71
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			71
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0025142	HP:0012531	Pain	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			5
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			5
HP:0025142	HP:0012378	Fatigue	1	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent		3267
HP:0025142	HP:0012378	Fatigue	1	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040283 - Occasional		100
HP:0025142	HP:0012378	Fatigue	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent		100
HP:0025142	HP:0012378	Fatigue	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0025142	HP:0012378	Fatigue	1	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive	.
HP:0025142	HP:0003546	Exercise intolerance	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0025142	HP:0012531	Pain	1	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0025142	HP:0012531	Pain	1	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease			192
HP:0025142	HP:0012378	Fatigue	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent		192
HP:0025142	HP:0033834	Malaise	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0025142	HP:0012531	Pain	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0025142	HP:0012531	Pain	1	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0025142	HP:0012378	Fatigue	1	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome	HP:0040281 - Very frequent		169
HP:0025142	HP:0012531	Pain	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10			9
HP:0025142	HP:0012378	Fatigue	1	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0025142	HP:0012531	Pain	1	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0025142	HP:0012531	Pain	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0025142	HP:0031058	Impairment of activities of daily living	1	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0025142	HP:0012531	Pain	1	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis			8
HP:0025142	HP:0012531	Pain	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0025142	HP:0031058	Impairment of activities of daily living	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0025142	HP:0012531	Pain	1	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma			184
HP:0025142	HP:0012531	Pain	1	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma			184
HP:0025142	HP:0001699	Sudden death	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0025142	HP:0012378	Fatigue	1	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent		18
HP:0025142	HP:0012531	Pain	1	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma			18
HP:0025142	HP:0012531	Pain	1	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0025142	HP:0012378	Fatigue	1	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma	HP:0040282 - Frequent		1
HP:0025142	HP:0030166	Night sweats	1	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent		1
HP:0025142	HP:0012378	Fatigue	1	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma	HP:0040282 - Frequent		1
HP:0025142	HP:0030166	Night sweats	1	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent		1
HP:0025142	HP:0001699	Sudden death	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0025142	HP:0100758	Gangrene	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare		101
HP:0025142	HP:0012378	Fatigue	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		101
HP:0025142	HP:0012531	Pain	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0025142	HP:0012378	Fatigue	1	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent		5
HP:0025142	HP:0031058	Impairment of activities of daily living	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0025142	HP:0003546	Exercise intolerance	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0025142	HP:0012531	Pain	1	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		5
HP:0025142	HP:0003546	Exercise intolerance	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0025142	HP:0012531	Pain	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0025142	HP:0031058	Impairment of activities of daily living	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0025142	HP:0012378	Fatigue	1	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent
HP:0025142	HP:0012531	Pain	1	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma
HP:0025142	HP:0012378	Fatigue	1	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		4
HP:0025142	HP:0012531	Pain	1	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0025142	HP:0012378	Fatigue	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0025142	HP:0012378	Fatigue	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent		385
HP:0025142	HP:0012531	Pain	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0025142	HP:0012531	Pain	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0025142	HP:0012531	Pain	1	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome			385
HP:0025142	HP:0031058	Impairment of activities of daily living	1	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO			22
HP:0025142	HP:0031058	Impairment of activities of daily living	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve			22
HP:0025142	HP:0012378	Fatigue	1	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma	HP:0040282 - Frequent		5769
HP:0025142	HP:0012531	Pain	1	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma			5769
HP:0025142	HP:0012378	Fatigue	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0025142	HP:0012531	Pain	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0025142	HP:0012531	Pain	1	BRCA1 CL E G H	672	1100	ORPHA:168829	Primary peritoneal carcinoma			5769
HP:0025142	HP:0012378	Fatigue	1	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma	HP:0040282 - Frequent		7642
HP:0025142	HP:0012531	Pain	1	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma			7642
HP:0025142	HP:0012378	Fatigue	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0025142	HP:0012531	Pain	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0025142	HP:0012531	Pain	1	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma			7642
HP:0025142	HP:0012531	Pain	1	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17			105
HP:0025142	HP:0012378	Fatigue	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent		109
HP:0025142	HP:0012378	Fatigue	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		1
HP:0025142	HP:0012531	Pain	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0025142	HP:0012531	Pain	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0025142	HP:0001699	Sudden death	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0025142	HP:0003546	Exercise intolerance	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25	.		2
HP:0025142	HP:0012531	Pain	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25			2
HP:0025142	HP:0031058	Impairment of activities of daily living	1	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration			114
HP:0025142	HP:0003546	Exercise intolerance	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0025142	HP:0012378	Fatigue	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0025142	HP:0012531	Pain	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0025142	HP:0012531	Pain	1	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2			7
HP:0025142	HP:0100758	Gangrene	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0025142	HP:0012378	Fatigue	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0025142	HP:0012531	Pain	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0025142	HP:0012378	Fatigue	1	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		56
HP:0025142	HP:0012531	Pain	1	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		56
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			94
HP:0025142	HP:0001699	Sudden death	1	CACNA1C CL E G H	775	1390	OMIM:611875	BRUGADA SYNDROME 3; BRGDA3			572
HP:0025142	HP:0001699	Sudden death	1	CACNA1C CL E G H	775	1390	OMIM:618447	LONG QT SYNDROME 8; LQT8			572
HP:0025142	HP:0001699	Sudden death	1	CACNA1C CL E G H	775	1390	ORPHA:101016	Romano-Ward syndrome			572
HP:0025142	HP:0001699	Sudden death	1	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	.		572
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy			75
HP:0025142	HP:0001699	Sudden death	1	CACNA2D1 CL E G H	781	1399	ORPHA:51083	Familial short QT syndrome			59
HP:0025142	HP:0001699	Sudden death	1	CALM1 CL E G H	801	1442	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			18
HP:0025142	HP:0001699	Sudden death	1	CALM1 CL E G H	801	1442	OMIM:616247	Long QT syndrome 14	.		18
HP:0025142	HP:0001699	Sudden death	1	CALM1 CL E G H	801	1442	ORPHA:101016	Romano-Ward syndrome			18
HP:0025142	HP:0001699	Sudden death	1	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4	.		18
HP:0025142	HP:0001699	Sudden death	1	CALM2 CL E G H	805	1445	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			13
HP:0025142	HP:0001699	Sudden death	1	CALM2 CL E G H	805	1445	ORPHA:101016	Romano-Ward syndrome			13
HP:0025142	HP:0001699	Sudden death	1	CALM3 CL E G H	808	1449	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			16
HP:0025142	HP:0001699	Sudden death	1	CALM3 CL E G H	808	1449	ORPHA:101016	Romano-Ward syndrome			16
HP:0025142	HP:0012531	Pain	1	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0025142	HP:0012531	Pain	1	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia			1
HP:0025142	HP:0012378	Fatigue	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		1
HP:0025142	HP:0012531	Pain	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis			1
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0025142	HP:0012531	Pain	1	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4			323
HP:0025142	HP:0012531	Pain	1	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30			1
HP:0025142	HP:0012378	Fatigue	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0025142	HP:0012531	Pain	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040283 - Occasional		35
HP:0025142	HP:0012531	Pain	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0025142	HP:0012531	Pain	1	CASQ1 CL E G H	844	1512	OMIM:616231	Myopathy, vacuolar, with CASQ1 aggregates			5
HP:0025142	HP:0012531	Pain	1	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy			5
HP:0025142	HP:0001699	Sudden death	1	CASQ2 CL E G H	845	1513	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			129
HP:0025142	HP:0001699	Sudden death	1	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			129
HP:0025142	HP:0001699	Sudden death	1	CASQ2 CL E G H	845	1513	OMIM:611938	Ventricular tachycardia, catecholaminergic polymorphic, 2	.		129
HP:0025142	HP:0012531	Pain	1	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia			272
HP:0025142	HP:0012531	Pain	1	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis			272
HP:0025142	HP:0100758	Gangrene	1	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040283 - Occasional		5
HP:0025142	HP:0012531	Pain	1	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040284 - Very rare		5
HP:0025142	HP:0012531	Pain	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis			11
HP:0025142	HP:0001699	Sudden death	1	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.		148
HP:0025142	HP:0012378	Fatigue	1	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum			148
HP:0025142	HP:0012531	Pain	1	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum			148
HP:0025142	HP:0012531	Pain	1	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type			148
HP:0025142	HP:0012531	Pain	1	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9			148
HP:0025142	HP:0012531	Pain	1	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease			148
HP:0025142	HP:0001699	Sudden death	1	CAV3 CL E G H	859	1529	ORPHA:101016	Romano-Ward syndrome			148
HP:0025142	HP:0003546	Exercise intolerance	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0025142	HP:0012531	Pain	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0025142	HP:0012378	Fatigue	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		317
HP:0025142	HP:0012531	Pain	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0025142	HP:0003546	Exercise intolerance	1	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4			25
HP:0025142	HP:0012531	Pain	1	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4			25
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0025142	HP:0012531	Pain	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0025142	HP:0012531	Pain	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0025142	HP:0012378	Fatigue	1	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent		1
HP:0025142	HP:0012378	Fatigue	1	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040282 - Frequent		1
HP:0025142	HP:0012531	Pain	1	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0025142	HP:0012531	Pain	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0025142	HP:0012378	Fatigue	1	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0025142	HP:0100758	Gangrene	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0025142	HP:0012378	Fatigue	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0025142	HP:0012531	Pain	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0025142	HP:0012531	Pain	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0025142	HP:0012531	Pain	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0025142	HP:0012378	Fatigue	1	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0025142	HP:0012531	Pain	1	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0025142	HP:0012531	Pain	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0025142	HP:0100758	Gangrene	1	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome	HP:0040283 - Occasional
HP:0025142	HP:0012531	Pain	1	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			105
HP:0025142	HP:0012378	Fatigue	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		39
HP:0025142	HP:0012531	Pain	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0025142	HP:0012531	Pain	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy			9
HP:0025142	HP:0012378	Fatigue	1	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		9
HP:0025142	HP:0012378	Fatigue	1	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		6
HP:0025142	HP:0012531	Pain	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0025142	HP:0012531	Pain	1	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0025142	HP:0012378	Fatigue	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040282 - Frequent		169
HP:0025142	HP:0012531	Pain	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0025142	HP:0012378	Fatigue	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent		169
HP:0025142	HP:0012531	Pain	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0025142	HP:0012531	Pain	1	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0025142	HP:0012378	Fatigue	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		636
HP:0025142	HP:0012378	Fatigue	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent		636
HP:0025142	HP:0012531	Pain	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent		2
HP:0025142	HP:0012531	Pain	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent		102
HP:0025142	HP:0012531	Pain	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0025142	HP:0012531	Pain	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma			289
HP:0025142	HP:0012378	Fatigue	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0025142	HP:0012531	Pain	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0025142	HP:0012531	Pain	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent		1
HP:0025142	HP:0012531	Pain	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent
HP:0025142	HP:0012531	Pain	1	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain			3
HP:0025142	HP:0012531	Pain	1	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction			25
HP:0025142	HP:0012378	Fatigue	1	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1			6
HP:0025142	HP:0012378	Fatigue	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		86
HP:0025142	HP:0012531	Pain	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0025142	HP:0012378	Fatigue	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		57
HP:0025142	HP:0012531	Pain	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0025142	HP:0012531	Pain	1	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis			1371
HP:0025142	HP:0100812	Halitosis	1	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional		1371
HP:0025142	HP:0012531	Pain	1	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis			1371
HP:0025142	HP:0012531	Pain	1	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary			1371
HP:0025142	HP:0012378	Fatigue	1	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0025142	HP:0012531	Pain	1	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0025142	HP:0003546	Exercise intolerance	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent		11
HP:0025142	HP:0012531	Pain	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0025142	HP:0003546	Exercise intolerance	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant	.		11
HP:0025142	HP:0012531	Pain	1	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent		833
HP:0025142	HP:0012378	Fatigue	1	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		42
HP:0025142	HP:0012531	Pain	1	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		42
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			188
HP:0025142	HP:0025144	Shivering	1	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4	.		188
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			225
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			88
HP:0025142	HP:0012531	Pain	1	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0025142	HP:0012531	Pain	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0025142	HP:0012531	Pain	1	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy			129
HP:0025142	HP:0012378	Fatigue	1	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA			118
HP:0025142	HP:0012531	Pain	1	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA			118
HP:0025142	HP:0003546	Exercise intolerance	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		5
HP:0025142	HP:0012378	Fatigue	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		5
HP:0025142	HP:0003546	Exercise intolerance	1	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040282 - Frequent		5
HP:0025142	HP:0012378	Fatigue	1	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040282 - Frequent		5
HP:0025142	HP:0001699	Sudden death	1	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0025142	HP:0012531	Pain	1	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant			133
HP:0025142	HP:0012531	Pain	1	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive			133
HP:0025142	HP:0012531	Pain	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0025142	HP:0012531	Pain	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0025142	HP:0012531	Pain	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0025142	HP:0012531	Pain	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0025142	HP:0012531	Pain	1	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0025142	HP:0012531	Pain	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0025142	HP:0012531	Pain	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0025142	HP:0001699	Sudden death	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia			38
HP:0025142	HP:0012531	Pain	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2			1
HP:0025142	HP:0003546	Exercise intolerance	1	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14			2
HP:0025142	HP:0031058	Impairment of activities of daily living	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0025142	HP:0012531	Pain	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type			79
HP:0025142	HP:0012531	Pain	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0025142	HP:0012531	Pain	1	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			222
HP:0025142	HP:0012531	Pain	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0025142	HP:0012531	Pain	1	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III			222
HP:0025142	HP:0003546	Exercise intolerance	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0025142	HP:0003546	Exercise intolerance	1	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	.		6
HP:0025142	HP:0012531	Pain	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040283 - Occasional		2
HP:0025142	HP:0012531	Pain	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0025142	HP:0012531	Pain	1	COL17A1 CL E G H	1308	2194	OMIM:122400	Epithelial recurrent erosion dystrophy	.		129
HP:0025142	HP:0012378	Fatigue	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent		373
HP:0025142	HP:0012531	Pain	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0025142	HP:0012378	Fatigue	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0025142	HP:0012531	Pain	1	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			284
HP:0025142	HP:0012531	Pain	1	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1			284
HP:0025142	HP:0012531	Pain	1	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type			284
HP:0025142	HP:0012531	Pain	1	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head			284
HP:0025142	HP:0031058	Impairment of activities of daily living	1	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent		284
HP:0025142	HP:0012531	Pain	1	COL2A1 CL E G H	1280	2200	ORPHA:2380	Legg-Calvé-Perthes disease			284
HP:0025142	HP:0012531	Pain	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0025142	HP:0012531	Pain	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0025142	HP:0012531	Pain	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0025142	HP:0012531	Pain	1	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type			284
HP:0025142	HP:0012531	Pain	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0025142	HP:0012531	Pain	1	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0025142	HP:0012531	Pain	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0025142	HP:0012531	Pain	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0025142	HP:0012531	Pain	1	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			161
HP:0025142	HP:0012531	Pain	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0025142	HP:0012531	Pain	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0025142	HP:0012378	Fatigue	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent		660
HP:0025142	HP:0012531	Pain	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0025142	HP:0012378	Fatigue	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent		325
HP:0025142	HP:0012531	Pain	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0025142	HP:0012531	Pain	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0025142	HP:0012531	Pain	1	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0025142	HP:0012531	Pain	1	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0025142	HP:0012531	Pain	1	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6			110
HP:0025142	HP:0003546	Exercise intolerance	1	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0025142	HP:0012531	Pain	1	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0025142	HP:0012378	Fatigue	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0025142	HP:0012531	Pain	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0025142	HP:0003546	Exercise intolerance	1	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0025142	HP:0012531	Pain	1	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0025142	HP:0012531	Pain	1	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0025142	HP:0003546	Exercise intolerance	1	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			137
HP:0025142	HP:0012531	Pain	1	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			137
HP:0025142	HP:0012531	Pain	1	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2			89
HP:0025142	HP:0012531	Pain	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0025142	HP:0003546	Exercise intolerance	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0025142	HP:0012531	Pain	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0025142	HP:0012531	Pain	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0025142	HP:0012531	Pain	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0025142	HP:0012531	Pain	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0025142	HP:0031058	Impairment of activities of daily living	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0025142	HP:0012531	Pain	1	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK			5
HP:0025142	HP:0031058	Impairment of activities of daily living	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0025142	HP:0012378	Fatigue	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0025142	HP:0031058	Impairment of activities of daily living	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to			54
HP:0025142	HP:0012531	Pain	1	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0025142	HP:0003546	Exercise intolerance	1	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040282 - Frequent		136
HP:0025142	HP:0003546	Exercise intolerance	1	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4	.		136
HP:0025142	HP:0012531	Pain	1	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			35
HP:0025142	HP:0012531	Pain	1	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0025142	HP:0012531	Pain	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0025142	HP:0003546	Exercise intolerance	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025142	HP:0003546	Exercise intolerance	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025142	HP:0012531	Pain	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0025142	HP:0003546	Exercise intolerance	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025142	HP:0012531	Pain	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0025142	HP:0012531	Pain	1	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis			5
HP:0025142	HP:0012531	Pain	1	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0025142	HP:0012531	Pain	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0025142	HP:0001699	Sudden death	1	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency			99
HP:0025142	HP:0012378	Fatigue	1	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040281 - Very frequent		99
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73			1
HP:0025142	HP:0003546	Exercise intolerance	1	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040281 - Very frequent		101
HP:0025142	HP:0012531	Pain	1	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form			101
HP:0025142	HP:0003546	Exercise intolerance	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent		101
HP:0025142	HP:0012531	Pain	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0025142	HP:0012531	Pain	1	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced			101
HP:0025142	HP:0012531	Pain	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0025142	HP:0012531	Pain	1	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7			10
HP:0025142	HP:0012531	Pain	1	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			12
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			1
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0025142	HP:0001699	Sudden death	1	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0025142	HP:0012531	Pain	1	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia			24
HP:0025142	HP:0012531	Pain	1	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0025142	HP:0012531	Pain	1	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0025142	HP:0001699	Sudden death	1	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12			104
HP:0025142	HP:0100758	Gangrene	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		10
HP:0025142	HP:0012378	Fatigue	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		10
HP:0025142	HP:0012531	Pain	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0025142	HP:0100758	Gangrene	1	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome	HP:0040283 - Occasional		10
HP:0025142	HP:0012531	Pain	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma			88
HP:0025142	HP:0012531	Pain	1	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor			88
HP:0025142	HP:0012378	Fatigue	1	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent		88
HP:0025142	HP:0012531	Pain	1	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma			88
HP:0025142	HP:0012531	Pain	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis			178
HP:0025142	HP:0012531	Pain	1	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis			39
HP:0025142	HP:0012531	Pain	1	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary			39
HP:0025142	HP:0012531	Pain	1	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0025142	HP:0012531	Pain	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0025142	HP:0012531	Pain	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0025142	HP:0012531	Pain	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0025142	HP:0012531	Pain	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0025142	HP:0012531	Pain	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0025142	HP:0012531	Pain	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0025142	HP:0100758	Gangrene	1	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		54
HP:0025142	HP:0031058	Impairment of activities of daily living	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0025142	HP:0012531	Pain	1	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma			1
HP:0025142	HP:0003546	Exercise intolerance	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040283 - Occasional
HP:0025142	HP:0012531	Pain	1	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0025142	HP:0031058	Impairment of activities of daily living	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0025142	HP:0012378	Fatigue	1	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0025142	HP:0012378	Fatigue	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040282 - Frequent		80
HP:0025142	HP:0012531	Pain	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency			80
HP:0025142	HP:0012531	Pain	1	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements			36
HP:0025142	HP:0012378	Fatigue	1	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		86
HP:0025142	HP:0012531	Pain	1	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		86
HP:0025142	HP:0012378	Fatigue	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		30
HP:0025142	HP:0012531	Pain	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0025142	HP:0031058	Impairment of activities of daily living	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0025142	HP:0012531	Pain	1	DDIT3 CL E G H	1649	2726	ORPHA:99967	Myxoid/round cell liposarcoma
HP:0025142	HP:0012531	Pain	1	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0025142	HP:0031058	Impairment of activities of daily living	1	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			172
HP:0025142	HP:0012531	Pain	1	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional		172
HP:0025142	HP:0001699	Sudden death	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0025142	HP:0012531	Pain	1	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type			9
HP:0025142	HP:0025406	Asthenia	1	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040283 - Occasional		57
HP:0025142	HP:0012531	Pain	1	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0025142	HP:0012531	Pain	1	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma			164
HP:0025142	HP:0012531	Pain	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0025142	HP:0031058	Impairment of activities of daily living	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0025142	HP:0012531	Pain	1	DKK1 CL E G H	22943	2891	ORPHA:85193	Idiopathic juvenile osteoporosis
HP:0025142	HP:0012531	Pain	1	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus
HP:0025142	HP:0012531	Pain	1	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0025142	HP:0012378	Fatigue	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0025142	HP:0003546	Exercise intolerance	1	DMD CL E G H	1756	2928	ORPHA:98895	Becker muscular dystrophy	HP:0040281 - Very frequent		1496
HP:0025142	HP:0012378	Fatigue	1	DMD CL E G H	1756	2928	ORPHA:98895	Becker muscular dystrophy	HP:0040282 - Frequent		1496
HP:0025142	HP:0012531	Pain	1	DMD CL E G H	1756	2928	ORPHA:98895	Becker muscular dystrophy			1496
HP:0025142	HP:0012531	Pain	1	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type			1496
HP:0025142	HP:0012531	Pain	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0025142	HP:0500001	Body odor	1	DMGDH CL E G H	29958	24475	ORPHA:243343	Dimethylglycine dehydrogenase deficiency			27
HP:0025142	HP:0500001	Body odor	1	DMGDH CL E G H	29958	24475	OMIM:605850	DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD			27
HP:0025142	HP:0012531	Pain	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0025142	HP:0012531	Pain	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0025142	HP:0031058	Impairment of activities of daily living	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0025142	HP:0012531	Pain	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0025142	HP:0003546	Exercise intolerance	1	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.		41
HP:0025142	HP:0012531	Pain	1	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0025142	HP:0012531	Pain	1	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E			103
HP:0025142	HP:0001699	Sudden death	1	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0025142	HP:0001699	Sudden death	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0025142	HP:0012378	Fatigue	1	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		6
HP:0025142	HP:0012531	Pain	1	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements			2
HP:0025142	HP:0012531	Pain	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0025142	HP:0012378	Fatigue	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		94
HP:0025142	HP:0012531	Pain	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0025142	HP:0012531	Pain	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0025142	HP:0031058	Impairment of activities of daily living	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0025142	HP:0031058	Impairment of activities of daily living	1	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0025142	HP:0012378	Fatigue	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		44
HP:0025142	HP:0012531	Pain	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0025142	HP:0031058	Impairment of activities of daily living	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0025142	HP:0012531	Pain	1	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG			9
HP:0025142	HP:0001699	Sudden death	1	DPP6 CL E G H	1804	3010	OMIM:612956	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2			18
HP:0025142	HP:0031058	Impairment of activities of daily living	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0025142	HP:0001699	Sudden death	1	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11			268
HP:0025142	HP:0012531	Pain	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0025142	HP:0001699	Sudden death	1	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10			358
HP:0025142	HP:0012531	Pain	1	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10			358
HP:0025142	HP:0001699	Sudden death	1	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8			747
HP:0025142	HP:0031058	Impairment of activities of daily living	1	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0025142	HP:0001699	Sudden death	1	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1			163
HP:0025142	HP:0031352	Chest tightness	1	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1			163
HP:0025142	HP:0012531	Pain	1	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0025142	HP:0012531	Pain	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy			600
HP:0025142	HP:0012378	Fatigue	1	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B	.		600
HP:0025142	HP:0012531	Pain	1	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease			13
HP:0025142	HP:0012531	Pain	1	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease			67
HP:0025142	HP:0012531	Pain	1	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome			67
HP:0025142	HP:0012531	Pain	1	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease			55
HP:0025142	HP:0012531	Pain	1	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome			55
HP:0025142	HP:0012531	Pain	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0025142	HP:0031058	Impairment of activities of daily living	1	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0025142	HP:0012378	Fatigue	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2			40
HP:0025142	HP:0001699	Sudden death	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia			79
HP:0025142	HP:0012378	Fatigue	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040282 - Frequent		79
HP:0025142	HP:0012531	Pain	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia			79
HP:0025142	HP:0012531	Pain	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0025142	HP:0012531	Pain	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			172
HP:0025142	HP:0001699	Sudden death	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0025142	HP:0012531	Pain	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0025142	HP:0001699	Sudden death	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0025142	HP:0001699	Sudden death	1	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked			107
HP:0025142	HP:0001699	Sudden death	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0025142	HP:0012531	Pain	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0025142	HP:0012531	Pain	1	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0025142	HP:0012531	Pain	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0025142	HP:0003546	Exercise intolerance	1	ENO3 CL E G H	2027	3354	OMIM:612932	Glycogen storage disease XIII	.		34
HP:0025142	HP:0012531	Pain	1	ENO3 CL E G H	2027	3354	OMIM:612932	Glycogen storage disease XIII			34
HP:0025142	HP:0012531	Pain	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0025142	HP:0100758	Gangrene	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare		151
HP:0025142	HP:0012531	Pain	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0025142	HP:0001699	Sudden death	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0025142	HP:0012378	Fatigue	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		112
HP:0025142	HP:0012531	Pain	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0025142	HP:0025143	Chills	1	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		6
HP:0025142	HP:0012531	Pain	1	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0025142	HP:0025143	Chills	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		51
HP:0025142	HP:0012531	Pain	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0025142	HP:0012378	Fatigue	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		170
HP:0025142	HP:0012531	Pain	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0025142	HP:0012378	Fatigue	1	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0025142	HP:0012531	Pain	1	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0025142	HP:0012378	Fatigue	1	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040281 - Very frequent		43
HP:0025142	HP:0012531	Pain	1	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia			43
HP:0025142	HP:0100758	Gangrene	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0025142	HP:0012378	Fatigue	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0025142	HP:0012531	Pain	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0025142	HP:0012531	Pain	1	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease			77
HP:0025142	HP:0012531	Pain	1	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease			12
HP:0025142	HP:0012531	Pain	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0025142	HP:0012378	Fatigue	1	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		15
HP:0025142	HP:0012531	Pain	1	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		15
HP:0025142	HP:0012378	Fatigue	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		106
HP:0025142	HP:0012531	Pain	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0025142	HP:0012378	Fatigue	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		54
HP:0025142	HP:0012531	Pain	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0025142	HP:0012378	Fatigue	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		158
HP:0025142	HP:0012531	Pain	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0025142	HP:0012378	Fatigue	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		83
HP:0025142	HP:0012531	Pain	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0025142	HP:0012531	Pain	1	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62			2
HP:0025142	HP:0012531	Pain	1	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0025142	HP:0012531	Pain	1	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0025142	HP:0012531	Pain	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040282 - Frequent		96
HP:0025142	HP:0012531	Pain	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0025142	HP:0012531	Pain	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040282 - Frequent		102
HP:0025142	HP:0001699	Sudden death	1	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J	.		111
HP:0025142	HP:0012531	Pain	1	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0025142	HP:0012531	Pain	1	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0025142	HP:0012531	Pain	1	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A			303
HP:0025142	HP:0012531	Pain	1	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A			303
HP:0025142	HP:0031058	Impairment of activities of daily living	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0025142	HP:0031058	Impairment of activities of daily living	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0025142	HP:0012378	Fatigue	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		15
HP:0025142	HP:0012531	Pain	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0025142	HP:0012531	Pain	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0025142	HP:0031058	Impairment of activities of daily living	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0025142	HP:0031058	Impairment of activities of daily living	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0025142	HP:0003546	Exercise intolerance	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0025142	HP:0003546	Exercise intolerance	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0025142	HP:0100758	Gangrene	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0025142	HP:0012378	Fatigue	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		59
HP:0025142	HP:0012531	Pain	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0025142	HP:0012531	Pain	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			1361
HP:0025142	HP:0012531	Pain	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0025142	HP:0012531	Pain	1	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0025142	HP:0012531	Pain	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0025142	HP:0012378	Fatigue	1	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040282 - Frequent		51
HP:0025142	HP:0012531	Pain	1	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets			51
HP:0025142	HP:0012531	Pain	1	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant			51
HP:0025142	HP:0012378	Fatigue	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		172
HP:0025142	HP:0012378	Fatigue	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		301
HP:0025142	HP:0012531	Pain	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0025142	HP:0012531	Pain	1	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy			68
HP:0025142	HP:0001699	Sudden death	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0025142	HP:0012531	Pain	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0025142	HP:0001699	Sudden death	1	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0025142	HP:0012378	Fatigue	1	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		111
HP:0025142	HP:0012531	Pain	1	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		111
HP:0025142	HP:0100758	Gangrene	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare		4
HP:0025142	HP:0012378	Fatigue	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0025142	HP:0012531	Pain	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0025142	HP:0031058	Impairment of activities of daily living	1	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0025142	HP:0001699	Sudden death	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			157
HP:0025142	HP:0012531	Pain	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0025142	HP:0012531	Pain	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0025142	HP:0012531	Pain	1	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			184
HP:0025142	HP:0003546	Exercise intolerance	1	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	.		18
HP:0025142	HP:0012531	Pain	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0025142	HP:0001699	Sudden death	1	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26			197
HP:0025142	HP:0012531	Pain	1	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0025142	HP:0012531	Pain	1	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0025142	HP:0031058	Impairment of activities of daily living	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0025142	HP:0012531	Pain	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0025142	HP:0031058	Impairment of activities of daily living	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0025142	HP:0500001	Body odor	1	FMO3 CL E G H	2328	3771	ORPHA:468726	Severe primary trimethylaminuria			55
HP:0025142	HP:0012531	Pain	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0025142	HP:0031058	Impairment of activities of daily living	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0025142	HP:0012531	Pain	1	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome			30
HP:0025142	HP:0031058	Impairment of activities of daily living	1	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome			30
HP:0025142	HP:0012531	Pain	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0025142	HP:0012378	Fatigue	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0025142	HP:0012378	Fatigue	1	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		9
HP:0025142	HP:0012531	Pain	1	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional		9
HP:0025142	HP:0012531	Pain	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			23
HP:0025142	HP:0012378	Fatigue	1	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent		184
HP:0025142	HP:0012531	Pain	1	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma			184
HP:0025142	HP:0031058	Impairment of activities of daily living	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0025142	HP:0012531	Pain	1	FSHR CL E G H	2492	3969	OMIM:608115	Ovarian hyperstimulation syndrome			50
HP:0025142	HP:0012531	Pain	1	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome			50
HP:0025142	HP:0012378	Fatigue	1	FTL CL E G H	2512	3999	ORPHA:254704	Genetic hyperferritinemia without iron overload	HP:0040283 - Occasional		33
HP:0025142	HP:0012531	Pain	1	FTL CL E G H	2512	3999	ORPHA:254704	Genetic hyperferritinemia without iron overload			33
HP:0025142	HP:0012378	Fatigue	1	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0025142	HP:0012531	Pain	1	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0025142	HP:0031058	Impairment of activities of daily living	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0025142	HP:0012531	Pain	1	FUS CL E G H	2521	4010	ORPHA:99967	Myxoid/round cell liposarcoma			105
HP:0025142	HP:0031058	Impairment of activities of daily living	1	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence			3
HP:0025142	HP:0031058	Impairment of activities of daily living	1	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0025142	HP:0012531	Pain	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0025142	HP:0003546	Exercise intolerance	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0025142	HP:0031058	Impairment of activities of daily living	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0025142	HP:0031058	Impairment of activities of daily living	1	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy			134
HP:0025142	HP:0031058	Impairment of activities of daily living	1	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy			57
HP:0025142	HP:0031058	Impairment of activities of daily living	1	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy			139
HP:0025142	HP:0031058	Impairment of activities of daily living	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0025142	HP:0031058	Impairment of activities of daily living	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0025142	HP:0012531	Pain	1	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		6
HP:0025142	HP:0012531	Pain	1	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0025142	HP:0012378	Fatigue	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent		137
HP:0025142	HP:0012378	Fatigue	1	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome	HP:0040282 - Frequent		137
HP:0025142	HP:0030166	Night sweats	1	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome	HP:0040283 - Occasional		137
HP:0025142	HP:0003546	Exercise intolerance	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		87
HP:0025142	HP:0012378	Fatigue	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		87
HP:0025142	HP:0003546	Exercise intolerance	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		37
HP:0025142	HP:0012378	Fatigue	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		37
HP:0025142	HP:0012531	Pain	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0025142	HP:0012531	Pain	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0025142	HP:0012378	Fatigue	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040281 - Very frequent
HP:0025142	HP:0012531	Pain	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0025142	HP:0012531	Pain	1	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0025142	HP:0031058	Impairment of activities of daily living	1	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0025142	HP:0031058	Impairment of activities of daily living	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46			30
HP:0025142	HP:0031058	Impairment of activities of daily living	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0025142	HP:0031058	Impairment of activities of daily living	1	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease			86
HP:0025142	HP:0031058	Impairment of activities of daily living	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form			86
HP:0025142	HP:0003546	Exercise intolerance	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		115
HP:0025142	HP:0012531	Pain	1	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia			1
HP:0025142	HP:0012531	Pain	1	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0025142	HP:0012378	Fatigue	1	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		86
HP:0025142	HP:0012378	Fatigue	1	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency	HP:0040282 - Frequent		237
HP:0025142	HP:0100247	Recurrent singultus	1	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.		5
HP:0025142	HP:0012531	Pain	1	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease			59
HP:0025142	HP:0012378	Fatigue	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0025142	HP:0012531	Pain	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia			56
HP:0025142	HP:0012531	Pain	1	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency			37
HP:0025142	HP:0012378	Fatigue	1	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0025142	HP:0012531	Pain	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0025142	HP:0012531	Pain	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0025142	HP:0031058	Impairment of activities of daily living	1	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive			37
HP:0025142	HP:0012378	Fatigue	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent		291
HP:0025142	HP:0012531	Pain	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0025142	HP:0012531	Pain	1	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease			291
HP:0025142	HP:0100247	Recurrent singultus	1	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.		166
HP:0025142	HP:0012378	Fatigue	1	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		45
HP:0025142	HP:0012531	Pain	1	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		45
HP:0025142	HP:0012378	Fatigue	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		173
HP:0025142	HP:0012378	Fatigue	1	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0025142	HP:0003546	Exercise intolerance	1	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0025142	HP:0003546	Exercise intolerance	1	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	.		34
HP:0025142	HP:0012531	Pain	1	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia			16
HP:0025142	HP:0012531	Pain	1	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma			16
HP:0025142	HP:0012531	Pain	1	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040283 - Occasional
HP:0025142	HP:0001699	Sudden death	1	GNAI2 CL E G H	2771	4385	OMIM:192605	Ventricular tachycardia, familial			4
HP:0025142	HP:0012531	Pain	1	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma			7
HP:0025142	HP:0012531	Pain	1	GNAS CL E G H	2778	4392	ORPHA:57782	Mazabraud syndrome			101
HP:0025142	HP:0012531	Pain	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0025142	HP:0012531	Pain	1	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia			101
HP:0025142	HP:0012531	Pain	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0025142	HP:0012531	Pain	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0025142	HP:0012531	Pain	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0025142	HP:0012531	Pain	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0025142	HP:0012531	Pain	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0025142	HP:0012531	Pain	1	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma			57
HP:0025142	HP:0012531	Pain	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0025142	HP:0031058	Impairment of activities of daily living	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0025142	HP:0012531	Pain	1	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma			73
HP:0025142	HP:0001699	Sudden death	1	GPD1L CL E G H	23171	28956	OMIM:611777	BRUGADA SYNDROME 2; BRGDA2			97
HP:0025142	HP:0012378	Fatigue	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent		5
HP:0025142	HP:0012531	Pain	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0025142	HP:0500001	Body odor	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome	.		5
HP:0025142	HP:0012531	Pain	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0025142	HP:0012378	Fatigue	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		2
HP:0025142	HP:0012531	Pain	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0025142	HP:0012531	Pain	1	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0025142	HP:0012378	Fatigue	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0025142	HP:0001699	Sudden death	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0025142	HP:0012531	Pain	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0025142	HP:0001699	Sudden death	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0025142	HP:0012531	Pain	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0025142	HP:0001699	Sudden death	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0025142	HP:0012531	Pain	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0025142	HP:0012531	Pain	1	GUCY2C CL E G H	2984	4688	OMIM:614616	Diarrhea 6			12
HP:0025142	HP:0001699	Sudden death	1	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0025142	HP:0025143	Chills	1	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		5
HP:0025142	HP:0012531	Pain	1	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0025142	HP:0003546	Exercise intolerance	1	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle			52
HP:0025142	HP:0012531	Pain	1	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma			4
HP:0025142	HP:0012531	Pain	1	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional		58
HP:0025142	HP:0012378	Fatigue	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0025142	HP:0031058	Impairment of activities of daily living	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0025142	HP:0001699	Sudden death	1	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency	.		99
HP:0025142	HP:0003546	Exercise intolerance	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040281 - Very frequent		99
HP:0025142	HP:0025143	Chills	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0025142	HP:0025144	Shivering	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0025142	HP:0012531	Pain	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0025142	HP:0012531	Pain	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0025142	HP:0003546	Exercise intolerance	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040281 - Very frequent		60
HP:0025142	HP:0025143	Chills	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0025142	HP:0025144	Shivering	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0025142	HP:0012531	Pain	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0025142	HP:0012531	Pain	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0025142	HP:0012531	Pain	1	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040283 - Occasional
HP:0025142	HP:0025143	Chills	1	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040282 - Frequent
HP:0025142	HP:0012378	Fatigue	1	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040282 - Frequent
HP:0025142	HP:0012378	Fatigue	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040281 - Very frequent		200
HP:0025142	HP:0012378	Fatigue	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040281 - Very frequent		88
HP:0025142	HP:0012531	Pain	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0025142	HP:0012531	Pain	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0025142	HP:0012531	Pain	1	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0025142	HP:0012531	Pain	1	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0025142	HP:0012531	Pain	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040281 - Very frequent		580
HP:0025142	HP:0012531	Pain	1	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0025142	HP:0012531	Pain	1	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0025142	HP:0012531	Pain	1	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0025142	HP:0012378	Fatigue	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0025142	HP:0012378	Fatigue	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0025142	HP:0012531	Pain	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0025142	HP:0012378	Fatigue	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		21
HP:0025142	HP:0012378	Fatigue	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		21
HP:0025142	HP:0012378	Fatigue	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		21
HP:0025142	HP:0012531	Pain	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0025142	HP:0031058	Impairment of activities of daily living	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0025142	HP:0031058	Impairment of activities of daily living	1	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0025142	HP:0012531	Pain	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0025142	HP:0012531	Pain	1	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0025142	HP:0012531	Pain	1	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata			38
HP:0025142	HP:0012378	Fatigue	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent		38
HP:0025142	HP:0012531	Pain	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0025142	HP:0033665	Diminished health-related quality of life	1	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria			77
HP:0025142	HP:0012531	Pain	1	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria			77
HP:0025142	HP:0012531	Pain	1	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria			77
HP:0025142	HP:0003546	Exercise intolerance	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040282 - Frequent		12
HP:0025142	HP:0012531	Pain	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0025142	HP:0031058	Impairment of activities of daily living	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0025142	HP:0100758	Gangrene	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0025142	HP:0012378	Fatigue	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		4
HP:0025142	HP:0012531	Pain	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0025142	HP:0001699	Sudden death	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0025142	HP:0100758	Gangrene	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0025142	HP:0012378	Fatigue	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent		4
HP:0025142	HP:0012531	Pain	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0025142	HP:0012531	Pain	1	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0025142	HP:0012531	Pain	1	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1			4
HP:0025142	HP:0001699	Sudden death	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0025142	HP:0012378	Fatigue	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent		4
HP:0025142	HP:0012531	Pain	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0025142	HP:0100758	Gangrene	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		4
HP:0025142	HP:0012378	Fatigue	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent		4
HP:0025142	HP:0012531	Pain	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0025142	HP:0100758	Gangrene	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0025142	HP:0012378	Fatigue	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0025142	HP:0012531	Pain	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0025142	HP:0012378	Fatigue	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent		1
HP:0025142	HP:0100758	Gangrene	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		1
HP:0025142	HP:0012378	Fatigue	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		1
HP:0025142	HP:0012531	Pain	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0025142	HP:0012531	Pain	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025142	HP:0012531	Pain	1	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia
HP:0025142	HP:0012531	Pain	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0025142	HP:0012531	Pain	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia
HP:0025142	HP:0031058	Impairment of activities of daily living	1	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to
HP:0025142	HP:0012378	Fatigue	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040284 - Very rare		2
HP:0025142	HP:0012531	Pain	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis			2
HP:0025142	HP:0012531	Pain	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis			2
HP:0025142	HP:0012378	Fatigue	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma	HP:0040282 - Frequent		2
HP:0025142	HP:0030166	Night sweats	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent		2
HP:0025142	HP:0001699	Sudden death	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0025142	HP:0100758	Gangrene	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0025142	HP:0012378	Fatigue	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent		2
HP:0025142	HP:0012531	Pain	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0025142	HP:0031058	Impairment of activities of daily living	1	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to			2
HP:0025142	HP:0012378	Fatigue	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		2
HP:0025142	HP:0012531	Pain	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0025142	HP:0012531	Pain	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0025142	HP:0012531	Pain	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0025142	HP:0012531	Pain	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0025142	HP:0031058	Impairment of activities of daily living	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0025142	HP:0012531	Pain	1	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent			81
HP:0025142	HP:0031058	Impairment of activities of daily living	1	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent			81
HP:0025142	HP:0012378	Fatigue	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional		35
HP:0025142	HP:0012378	Fatigue	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0025142	HP:0012378	Fatigue	1	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0025142	HP:0012531	Pain	1	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0025142	HP:0012531	Pain	1	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3			31
HP:0025142	HP:0012531	Pain	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0025142	HP:0012531	Pain	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0025142	HP:0012531	Pain	1	HOGA1 CL E G H	112817	25155	ORPHA:93600	Primary hyperoxaluria type 3	HP:0040281 - Very frequent		83
HP:0025142	HP:0012531	Pain	1	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0025142	HP:0012531	Pain	1	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy			55
HP:0025142	HP:0012531	Pain	1	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1			55
HP:0025142	HP:0012531	Pain	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0025142	HP:0012531	Pain	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0025142	HP:0031058	Impairment of activities of daily living	1	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome			9
HP:0025142	HP:0001699	Sudden death	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0025142	HP:0012531	Pain	1	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0025142	HP:0031058	Impairment of activities of daily living	1	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0025142	HP:0031058	Impairment of activities of daily living	1	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13			46
HP:0025142	HP:0031058	Impairment of activities of daily living	1	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant			46
HP:0025142	HP:0012531	Pain	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0025142	HP:0012531	Pain	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0025142	HP:0031058	Impairment of activities of daily living	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0025142	HP:0012531	Pain	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0025142	HP:0012531	Pain	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0025142	HP:0012531	Pain	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0025142	HP:0012531	Pain	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome			15
HP:0025142	HP:0012531	Pain	1	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease			15
HP:0025142	HP:0012531	Pain	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome			29
HP:0025142	HP:0012531	Pain	1	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease			29
HP:0025142	HP:0012531	Pain	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0025142	HP:0100758	Gangrene	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0025142	HP:0012378	Fatigue	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		60
HP:0025142	HP:0012531	Pain	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0025142	HP:0030166	Night sweats	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0025142	HP:0012531	Pain	1	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		148
HP:0025142	HP:0031058	Impairment of activities of daily living	1	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0025142	HP:0012378	Fatigue	1	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma	HP:0040282 - Frequent		7
HP:0025142	HP:0030166	Night sweats	1	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent		7
HP:0025142	HP:0012378	Fatigue	1	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent		7
HP:0025142	HP:0012531	Pain	1	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma			7
HP:0025142	HP:0012378	Fatigue	1	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent		7
HP:0025142	HP:0012378	Fatigue	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0025142	HP:0012531	Pain	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0025142	HP:0012378	Fatigue	1	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		7
HP:0025142	HP:0031058	Impairment of activities of daily living	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0025142	HP:0012378	Fatigue	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0025142	HP:0012531	Pain	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0025142	HP:0012378	Fatigue	1	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		3
HP:0025142	HP:0001699	Sudden death	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0025142	HP:0012378	Fatigue	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent		8
HP:0025142	HP:0012531	Pain	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0025142	HP:0100758	Gangrene	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0025142	HP:0012378	Fatigue	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		2
HP:0025142	HP:0012531	Pain	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0025142	HP:0012378	Fatigue	1	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0025142	HP:0012531	Pain	1	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0025142	HP:0100758	Gangrene	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0025142	HP:0012378	Fatigue	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0025142	HP:0012531	Pain	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0025142	HP:0012378	Fatigue	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0025142	HP:0100758	Gangrene	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0025142	HP:0012378	Fatigue	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0025142	HP:0012531	Pain	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0025142	HP:0100758	Gangrene	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		31
HP:0025142	HP:0012378	Fatigue	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent		31
HP:0025142	HP:0012531	Pain	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0025142	HP:0012378	Fatigue	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional		46
HP:0025142	HP:0012378	Fatigue	1	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0025142	HP:0012531	Pain	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0025142	HP:0012378	Fatigue	1	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11			3
HP:0025142	HP:0100758	Gangrene	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0025142	HP:0012378	Fatigue	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0025142	HP:0012531	Pain	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0025142	HP:0012531	Pain	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0025142	HP:0012531	Pain	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0025142	HP:0012531	Pain	1	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease			2
HP:0025142	HP:0012531	Pain	1	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0025142	HP:0012378	Fatigue	1	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		1
HP:0025142	HP:0012531	Pain	1	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			135
HP:0025142	HP:0012378	Fatigue	1	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency	HP:0040282 - Frequent		229
HP:0025142	HP:0012531	Pain	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0025142	HP:0100758	Gangrene	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare		4
HP:0025142	HP:0012378	Fatigue	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0025142	HP:0012531	Pain	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0025142	HP:0012531	Pain	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0025142	HP:0012378	Fatigue	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent		1
HP:0025142	HP:0012531	Pain	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0025142	HP:0012531	Pain	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis			4
HP:0025142	HP:0012378	Fatigue	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional		4
HP:0025142	HP:0003546	Exercise intolerance	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.		19
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy			2
HP:0025142	HP:0012378	Fatigue	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		127
HP:0025142	HP:0012378	Fatigue	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025142	HP:0030166	Night sweats	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0025142	HP:0012531	Pain	1	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0025142	HP:0012378	Fatigue	1	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.		57
HP:0025142	HP:0012531	Pain	1	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia			57
HP:0025142	HP:0012531	Pain	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0025142	HP:0012378	Fatigue	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent		57
HP:0025142	HP:0012531	Pain	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0025142	HP:0012378	Fatigue	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		57
HP:0025142	HP:0012531	Pain	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis			57
HP:0025142	HP:0012531	Pain	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0025142	HP:0031058	Impairment of activities of daily living	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0025142	HP:0031058	Impairment of activities of daily living	1	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0025142	HP:0001699	Sudden death	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.		222
HP:0025142	HP:0001699	Sudden death	1	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease			222
HP:0025142	HP:0003546	Exercise intolerance	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		80
HP:0025142	HP:0003546	Exercise intolerance	1	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6	.		80
HP:0025142	HP:0031058	Impairment of activities of daily living	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0025142	HP:0031058	Impairment of activities of daily living	1	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22			35
HP:0025142	HP:0003546	Exercise intolerance	1	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome			148
HP:0025142	HP:0001699	Sudden death	1	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2			148
HP:0025142	HP:0001699	Sudden death	1	KCNE1 CL E G H	3753	6240	OMIM:613695	Long QT syndrome 5			148
HP:0025142	HP:0001699	Sudden death	1	KCNE1 CL E G H	3753	6240	ORPHA:101016	Romano-Ward syndrome			148
HP:0025142	HP:0001699	Sudden death	1	KCNE2 CL E G H	9992	6242	OMIM:613693	Long QT syndrome 6			43
HP:0025142	HP:0001699	Sudden death	1	KCNE2 CL E G H	9992	6242	ORPHA:101016	Romano-Ward syndrome			43
HP:0025142	HP:0001699	Sudden death	1	KCNH2 CL E G H	3757	6251	ORPHA:51083	Familial short QT syndrome			901
HP:0025142	HP:0001699	Sudden death	1	KCNH2 CL E G H	3757	6251	OMIM:613688	Long QT syndrome 2			901
HP:0025142	HP:0001699	Sudden death	1	KCNH2 CL E G H	3757	6251	ORPHA:101016	Romano-Ward syndrome			901
HP:0025142	HP:0001699	Sudden death	1	KCNH2 CL E G H	3757	6251	OMIM:609620	SHORT QT SYNDROME 1; SQT1			901
HP:0025142	HP:0001699	Sudden death	1	KCNJ2 CL E G H	3759	6263	ORPHA:51083	Familial short QT syndrome			193
HP:0025142	HP:0001699	Sudden death	1	KCNJ5 CL E G H	3762	6266	ORPHA:101016	Romano-Ward syndrome			128
HP:0025142	HP:0012378	Fatigue	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0025142	HP:0012531	Pain	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0025142	HP:0001699	Sudden death	1	KCNQ1 CL E G H	3784	6294	ORPHA:51083	Familial short QT syndrome			730
HP:0025142	HP:0003546	Exercise intolerance	1	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome			730
HP:0025142	HP:0001699	Sudden death	1	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1			730
HP:0025142	HP:0001699	Sudden death	1	KCNQ1 CL E G H	3784	6294	OMIM:192500	LONG QT SYNDROME 1; LQT1			730
HP:0025142	HP:0001699	Sudden death	1	KCNQ1 CL E G H	3784	6294	ORPHA:101016	Romano-Ward syndrome			730
HP:0025142	HP:0001699	Sudden death	1	KCNQ1 CL E G H	3784	6294	OMIM:609621	Short QT syndrome 2			730
HP:0025142	HP:0031058	Impairment of activities of daily living	1	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			321
HP:0025142	HP:0100758	Gangrene	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0025142	HP:0012378	Fatigue	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		202
HP:0025142	HP:0012531	Pain	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0025142	HP:0012531	Pain	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0025142	HP:0012378	Fatigue	1	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent		1
HP:0025142	HP:0031058	Impairment of activities of daily living	1	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant			93
HP:0025142	HP:0012531	Pain	1	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type			167
HP:0025142	HP:0012531	Pain	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0025142	HP:0012378	Fatigue	1	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent		327
HP:0025142	HP:0012378	Fatigue	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		327
HP:0025142	HP:0012531	Pain	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0025142	HP:0012378	Fatigue	1	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3			68
HP:0025142	HP:0012531	Pain	1	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0025142	HP:0003546	Exercise intolerance	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		13
HP:0025142	HP:0100758	Gangrene	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0025142	HP:0012378	Fatigue	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0025142	HP:0012531	Pain	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0025142	HP:0031058	Impairment of activities of daily living	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0025142	HP:0012378	Fatigue	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040283 - Occasional
HP:0025142	HP:0012378	Fatigue	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0025142	HP:0012531	Pain	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0025142	HP:0012378	Fatigue	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		196
HP:0025142	HP:0012531	Pain	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0025142	HP:0012531	Pain	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0025142	HP:0012531	Pain	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0025142	HP:0012531	Pain	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0025142	HP:0012531	Pain	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0025142	HP:0012531	Pain	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0025142	HP:0012531	Pain	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0025142	HP:0012531	Pain	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent		3
HP:0025142	HP:0012531	Pain	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0025142	HP:0031058	Impairment of activities of daily living	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0025142	HP:0012531	Pain	1	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0025142	HP:0003546	Exercise intolerance	1	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.		211
HP:0025142	HP:0012378	Fatigue	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040281 - Very frequent		70
HP:0025142	HP:0012531	Pain	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome			70
HP:0025142	HP:0001699	Sudden death	1	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction			286
HP:0025142	HP:0012531	Pain	1	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency			35
HP:0025142	HP:0003546	Exercise intolerance	1	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI	.		35
HP:0025142	HP:0012531	Pain	1	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI			35
HP:0025142	HP:0001699	Sudden death	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia			2157
HP:0025142	HP:0012531	Pain	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia			2157
HP:0025142	HP:0001699	Sudden death	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia			73
HP:0025142	HP:0012531	Pain	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia			73
HP:0025142	HP:0001699	Sudden death	1	LEMD2 CL E G H	221496	21244	OMIM:212500	CATARACT 46, JUVENILE-ONSET; CTRCT46			1
HP:0025142	HP:0012531	Pain	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0025142	HP:0012531	Pain	1	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0025142	HP:0012378	Fatigue	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		51
HP:0025142	HP:0012378	Fatigue	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		43
HP:0025142	HP:0012378	Fatigue	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		43
HP:0025142	HP:0012531	Pain	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0025142	HP:0001699	Sudden death	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0025142	HP:0100758	Gangrene	1	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		1
HP:0025142	HP:0012531	Pain	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0025142	HP:0001699	Sudden death	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0025142	HP:0012531	Pain	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0025142	HP:0001699	Sudden death	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0025142	HP:0012531	Pain	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0025142	HP:0012531	Pain	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0025142	HP:0001699	Sudden death	1	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A			645
HP:0025142	HP:0001699	Sudden death	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0025142	HP:0001699	Sudden death	1	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation			645
HP:0025142	HP:0012531	Pain	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0025142	HP:0012531	Pain	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0025142	HP:0012531	Pain	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0025142	HP:0012531	Pain	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0025142	HP:0012531	Pain	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0025142	HP:0031058	Impairment of activities of daily living	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0025142	HP:0012531	Pain	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0025142	HP:0012531	Pain	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0025142	HP:0012531	Pain	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0025142	HP:0012531	Pain	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			6
HP:0025142	HP:0012531	Pain	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0025142	HP:0012531	Pain	1	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent			95
HP:0025142	HP:0012531	Pain	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0025142	HP:0012531	Pain	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0025142	HP:0012531	Pain	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0025142	HP:0012378	Fatigue	1	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0025142	HP:0031058	Impairment of activities of daily living	1	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome			5
HP:0025142	HP:0012531	Pain	1	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040283 - Occasional		4
HP:0025142	HP:0012531	Pain	1	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease			125
HP:0025142	HP:0012531	Pain	1	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0025142	HP:0001699	Sudden death	1	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2			26
HP:0025142	HP:0012378	Fatigue	1	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		3
HP:0025142	HP:0012531	Pain	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0025142	HP:0012531	Pain	1	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			59
HP:0025142	HP:0012378	Fatigue	1	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent		6
HP:0025142	HP:0012531	Pain	1	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma			6
HP:0025142	HP:0025406	Asthenia	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040282 - Frequent		136
HP:0025142	HP:0025406	Asthenia	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent		136
HP:0025142	HP:0012378	Fatigue	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0025142	HP:0031058	Impairment of activities of daily living	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0025142	HP:0031058	Impairment of activities of daily living	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0025142	HP:0100812	Halitosis	1	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY	.		82
HP:0025142	HP:0012531	Pain	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			13
HP:0025142	HP:0012531	Pain	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0025142	HP:0012531	Pain	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0025142	HP:0012378	Fatigue	1	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		80
HP:0025142	HP:0012531	Pain	1	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		80
HP:0025142	HP:0012531	Pain	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0025142	HP:0012378	Fatigue	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		84
HP:0025142	HP:0012531	Pain	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0025142	HP:0012378	Fatigue	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0025142	HP:0012531	Pain	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0025142	HP:0012531	Pain	1	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE			5
HP:0025142	HP:0012378	Fatigue	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		4
HP:0025142	HP:0012531	Pain	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0025142	HP:0012378	Fatigue	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0025142	HP:0012531	Pain	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0025142	HP:0012531	Pain	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0025142	HP:0012531	Pain	1	MEF2A CL E G H	4205	6993	OMIM:608320	Coronary artery disease, autosomal dominant, 1			5
HP:0025142	HP:0100758	Gangrene	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0025142	HP:0012378	Fatigue	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		281
HP:0025142	HP:0012531	Pain	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0025142	HP:0012531	Pain	1	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever			281
HP:0025142	HP:0012531	Pain	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0025142	HP:0012531	Pain	1	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT			281
HP:0025142	HP:0012531	Pain	1	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis			281
HP:0025142	HP:0012531	Pain	1	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0025142	HP:0012531	Pain	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040281 - Very frequent		281
HP:0025142	HP:0012378	Fatigue	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040283 - Occasional		462
HP:0025142	HP:0012531	Pain	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0025142	HP:0031058	Impairment of activities of daily living	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent		462
HP:0025142	HP:0012378	Fatigue	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		462
HP:0025142	HP:0012531	Pain	1	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0025142	HP:0012378	Fatigue	1	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent		375
HP:0025142	HP:0012531	Pain	1	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma			375
HP:0025142	HP:0001699	Sudden death	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0025142	HP:0012531	Pain	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0025142	HP:0012531	Pain	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			11
HP:0025142	HP:0012531	Pain	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0025142	HP:0012531	Pain	1	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.		203
HP:0025142	HP:0012531	Pain	1	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis			203
HP:0025142	HP:0003546	Exercise intolerance	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.		11
HP:0025142	HP:0003546	Exercise intolerance	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent		11
HP:0025142	HP:0003546	Exercise intolerance	1	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0025142	HP:0012531	Pain	1	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0025142	HP:0012531	Pain	1	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0025142	HP:0012531	Pain	1	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional		3
HP:0025142	HP:0012531	Pain	1	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome			91
HP:0025142	HP:0012378	Fatigue	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		1819
HP:0025142	HP:0012531	Pain	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0025142	HP:0012378	Fatigue	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		131
HP:0025142	HP:0012531	Pain	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0025142	HP:0003546	Exercise intolerance	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0025142	HP:0012531	Pain	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0025142	HP:0100758	Gangrene	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0025142	HP:0012378	Fatigue	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent
HP:0025142	HP:0012531	Pain	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0025142	HP:0001699	Sudden death	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0025142	HP:0012531	Pain	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0025142	HP:0001699	Sudden death	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0025142	HP:0012531	Pain	1	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0025142	HP:0012378	Fatigue	1	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD	HP:0040281 - Very frequent		50
HP:0025142	HP:0012531	Pain	1	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0025142	HP:0012531	Pain	1	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040282 - Frequent		18
HP:0025142	HP:0012378	Fatigue	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0025142	HP:0012531	Pain	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0025142	HP:0012531	Pain	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0025142	HP:0012531	Pain	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0025142	HP:0031058	Impairment of activities of daily living	1	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome			17
HP:0025142	HP:0012531	Pain	1	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II			4
HP:0025142	HP:0012378	Fatigue	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent		8
HP:0025142	HP:0031058	Impairment of activities of daily living	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0025142	HP:0031058	Impairment of activities of daily living	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0025142	HP:0012531	Pain	1	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia			97
HP:0025142	HP:0012531	Pain	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0025142	HP:0012378	Fatigue	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent		97
HP:0025142	HP:0012531	Pain	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0025142	HP:0012378	Fatigue	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		97
HP:0025142	HP:0012531	Pain	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis			97
HP:0025142	HP:0012378	Fatigue	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0025142	HP:0012531	Pain	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0025142	HP:0003546	Exercise intolerance	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0025142	HP:0012531	Pain	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0025142	HP:0012531	Pain	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0025142	HP:0012378	Fatigue	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		2162
HP:0025142	HP:0012531	Pain	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0025142	HP:0012378	Fatigue	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		2232
HP:0025142	HP:0012531	Pain	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0025142	HP:0012531	Pain	1	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0025142	HP:0012378	Fatigue	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		1
HP:0025142	HP:0012531	Pain	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0025142	HP:0012531	Pain	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0025142	HP:0012531	Pain	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0025142	HP:0025406	Asthenia	1	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.		5
HP:0025142	HP:0012531	Pain	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0025142	HP:0031058	Impairment of activities of daily living	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0025142	HP:0012531	Pain	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0025142	HP:0012531	Pain	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0025142	HP:0025143	Chills	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0025142	HP:0012531	Pain	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0025142	HP:0012531	Pain	1	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever			150
HP:0025142	HP:0012531	Pain	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0025142	HP:0001699	Sudden death	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0025142	HP:0012531	Pain	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0025142	HP:0012531	Pain	1	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma			11
HP:0025142	HP:0012378	Fatigue	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional		9
HP:0025142	HP:0012531	Pain	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0025142	HP:0031058	Impairment of activities of daily living	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0025142	HP:0012531	Pain	1	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection			418
HP:0025142	HP:0012531	Pain	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			418
HP:0025142	HP:0012531	Pain	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0025142	HP:0003546	Exercise intolerance	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		452
HP:0025142	HP:0012378	Fatigue	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		452
HP:0025142	HP:0001699	Sudden death	1	MYH6 CL E G H	4624	7576	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.		452
HP:0025142	HP:0001699	Sudden death	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0025142	HP:0001699	Sudden death	1	MYH7 CL E G H	4625	7577	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.		1269
HP:0025142	HP:0001699	Sudden death	1	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve			1269
HP:0025142	HP:0012378	Fatigue	1	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040281 - Very frequent		1269
HP:0025142	HP:0012531	Pain	1	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve			1269
HP:0025142	HP:0012531	Pain	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy			1269
HP:0025142	HP:0012531	Pain	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0025142	HP:0001699	Sudden death	1	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0025142	HP:0012531	Pain	1	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0025142	HP:0012378	Fatigue	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		131
HP:0025142	HP:0001699	Sudden death	1	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8			95
HP:0025142	HP:0001699	Sudden death	1	MYLK CL E G H	4638	7590	OMIM:613780	AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7			326
HP:0025142	HP:0012531	Pain	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			326
HP:0025142	HP:0001699	Sudden death	1	MYLK2 CL E G H	85366	16243	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.		124
HP:0025142	HP:0012531	Pain	1	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0025142	HP:0031058	Impairment of activities of daily living	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0025142	HP:0012531	Pain	1	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY			75
HP:0025142	HP:0001699	Sudden death	1	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16			81
HP:0025142	HP:0003546	Exercise intolerance	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		217
HP:0025142	HP:0012378	Fatigue	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040283 - Occasional
HP:0025142	HP:0012531	Pain	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0025142	HP:0030166	Night sweats	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0025142	HP:0100758	Gangrene	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare
HP:0025142	HP:0012378	Fatigue	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0025142	HP:0012378	Fatigue	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional		36
HP:0025142	HP:0012378	Fatigue	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0025142	HP:0001699	Sudden death	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0025142	HP:0012531	Pain	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0025142	HP:0003546	Exercise intolerance	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025142	HP:0003546	Exercise intolerance	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025142	HP:0003546	Exercise intolerance	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025142	HP:0003546	Exercise intolerance	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025142	HP:0012531	Pain	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0025142	HP:0003546	Exercise intolerance	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0025142	HP:0003546	Exercise intolerance	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		745
HP:0025142	HP:0012378	Fatigue	1	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		24
HP:0025142	HP:0012531	Pain	1	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		24
HP:0025142	HP:0031058	Impairment of activities of daily living	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0025142	HP:0012378	Fatigue	1	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		101
HP:0025142	HP:0012531	Pain	1	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		101
HP:0025142	HP:0031058	Impairment of activities of daily living	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0025142	HP:0012531	Pain	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0025142	HP:0012378	Fatigue	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		1952
HP:0025142	HP:0012531	Pain	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0025142	HP:0012531	Pain	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0025142	HP:0031058	Impairment of activities of daily living	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0025142	HP:0012531	Pain	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0025142	HP:0012531	Pain	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0025142	HP:0012378	Fatigue	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent		11
HP:0025142	HP:0012378	Fatigue	1	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA			1
HP:0025142	HP:0012531	Pain	1	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA			1
HP:0025142	HP:0012531	Pain	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0025142	HP:0031058	Impairment of activities of daily living	1	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6			117
HP:0025142	HP:0031058	Impairment of activities of daily living	1	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant			117
HP:0025142	HP:0100758	Gangrene	1	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		60
HP:0025142	HP:0012378	Fatigue	1	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		51
HP:0025142	HP:0012378	Fatigue	1	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		90
HP:0025142	HP:0003546	Exercise intolerance	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		90
HP:0025142	HP:0012378	Fatigue	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		90
HP:0025142	HP:0012531	Pain	1	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect			90
HP:0025142	HP:0012531	Pain	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0025142	HP:0012378	Fatigue	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0025142	HP:0012531	Pain	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0025142	HP:0012531	Pain	1	NLRC4 CL E G H	58484	16412	OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4			30
HP:0025142	HP:0012531	Pain	1	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0025142	HP:0012378	Fatigue	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent		217
HP:0025142	HP:0012531	Pain	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0025142	HP:0012531	Pain	1	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation			217
HP:0025142	HP:0025143	Chills	1	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0025142	HP:0012378	Fatigue	1	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0025142	HP:0012531	Pain	1	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0025142	HP:0012378	Fatigue	1	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040281 - Very frequent		217
HP:0025142	HP:0012531	Pain	1	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria			217
HP:0025142	HP:0012378	Fatigue	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0025142	HP:0012531	Pain	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0025142	HP:0012531	Pain	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0025142	HP:0012378	Fatigue	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0025142	HP:0012531	Pain	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0025142	HP:0012531	Pain	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0025142	HP:0012531	Pain	1	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease			187
HP:0025142	HP:0012531	Pain	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0025142	HP:0031058	Impairment of activities of daily living	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0025142	HP:0012531	Pain	1	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia			2
HP:0025142	HP:0001699	Sudden death	1	NOS1AP CL E G H	9722	16859	ORPHA:101016	Romano-Ward syndrome			4
HP:0025142	HP:0012531	Pain	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0025142	HP:0031058	Impairment of activities of daily living	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0025142	HP:0031058	Impairment of activities of daily living	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0025142	HP:0031058	Impairment of activities of daily living	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy			144
HP:0025142	HP:0012531	Pain	1	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			241
HP:0025142	HP:0012531	Pain	1	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			69
HP:0025142	HP:0100758	Gangrene	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare		12
HP:0025142	HP:0012378	Fatigue	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0025142	HP:0012531	Pain	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0025142	HP:0003546	Exercise intolerance	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill			13
HP:0025142	HP:0012378	Fatigue	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent		13
HP:0025142	HP:0012531	Pain	1	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional		4
HP:0025142	HP:0012531	Pain	1	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional		7
HP:0025142	HP:0012531	Pain	1	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0025142	HP:0012378	Fatigue	1	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040281 - Very frequent		79
HP:0025142	HP:0012378	Fatigue	1	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized	.		79
HP:0025142	HP:0012378	Fatigue	1	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		27
HP:0025142	HP:0012531	Pain	1	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease			4
HP:0025142	HP:0025406	Asthenia	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent		34
HP:0025142	HP:0012531	Pain	1	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements
HP:0025142	HP:0012531	Pain	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0025142	HP:0100758	Gangrene	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare
HP:0025142	HP:0012378	Fatigue	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0025142	HP:0012531	Pain	1	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0025142	HP:0012531	Pain	1	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0025142	HP:0001699	Sudden death	1	NUP155 CL E G H	9631	8063	OMIM:615770	Atrial fibrillation, familial, 15			1
HP:0025142	HP:0012531	Pain	1	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0025142	HP:0012531	Pain	1	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0025142	HP:0012531	Pain	1	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0025142	HP:0012531	Pain	1	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0025142	HP:0012531	Pain	1	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0025142	HP:0012378	Fatigue	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040282 - Frequent		214
HP:0025142	HP:0012378	Fatigue	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		214
HP:0025142	HP:0012531	Pain	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0025142	HP:0012531	Pain	1	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040282 - Frequent		163
HP:0025142	HP:0012531	Pain	1	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency			5
HP:0025142	HP:0012378	Fatigue	1	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0025142	HP:0012531	Pain	1	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0025142	HP:0012531	Pain	1	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy			19
HP:0025142	HP:0012531	Pain	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0025142	HP:0012531	Pain	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0025142	HP:0012378	Fatigue	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		41
HP:0025142	HP:0012378	Fatigue	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		41
HP:0025142	HP:0012531	Pain	1	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0025142	HP:0001699	Sudden death	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0025142	HP:0100758	Gangrene	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0025142	HP:0012378	Fatigue	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent		3
HP:0025142	HP:0012531	Pain	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0025142	HP:0012378	Fatigue	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0025142	HP:0012531	Pain	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0025142	HP:0012378	Fatigue	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0025142	HP:0012531	Pain	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0025142	HP:0031058	Impairment of activities of daily living	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1			55
HP:0025142	HP:0012531	Pain	1	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			39
HP:0025142	HP:0012378	Fatigue	1	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		63
HP:0025142	HP:0012378	Fatigue	1	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent		63
HP:0025142	HP:0001699	Sudden death	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia			178
HP:0025142	HP:0012531	Pain	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia			178
HP:0025142	HP:0031058	Impairment of activities of daily living	1	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to			1
HP:0025142	HP:0031058	Impairment of activities of daily living	1	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1			9
HP:0025142	HP:0012531	Pain	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0025142	HP:0031058	Impairment of activities of daily living	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0025142	HP:0012378	Fatigue	1	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent		337
HP:0025142	HP:0012531	Pain	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic			337
HP:0025142	HP:0031058	Impairment of activities of daily living	1	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1			28
HP:0025142	HP:0031058	Impairment of activities of daily living	1	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0025142	HP:0003546	Exercise intolerance	1	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.		64
HP:0025142	HP:0012378	Fatigue	1	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0025142	HP:0012531	Pain	1	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0025142	HP:0003546	Exercise intolerance	1	PGAM2 CL E G H	5224	8889	OMIM:261670	Phosphoglycerate mutase, muscle, deficiency of	.		26
HP:0025142	HP:0012531	Pain	1	PGAM2 CL E G H	5224	8889	OMIM:261670	Phosphoglycerate mutase, muscle, deficiency of			26
HP:0025142	HP:0012531	Pain	1	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0025142	HP:0003546	Exercise intolerance	1	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency	.		21
HP:0025142	HP:0001699	Sudden death	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0025142	HP:0003546	Exercise intolerance	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0025142	HP:0012378	Fatigue	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It	HP:0040283 - Occasional		58
HP:0025142	HP:0012531	Pain	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0025142	HP:0012531	Pain	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0025142	HP:0012378	Fatigue	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0025142	HP:0003546	Exercise intolerance	1	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked	.		54
HP:0025142	HP:0012531	Pain	1	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked			54
HP:0025142	HP:0003546	Exercise intolerance	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		54
HP:0025142	HP:0012378	Fatigue	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		54
HP:0025142	HP:0012531	Pain	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0025142	HP:0012378	Fatigue	1	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa			54
HP:0025142	HP:0003546	Exercise intolerance	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0025142	HP:0012378	Fatigue	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0025142	HP:0012531	Pain	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0025142	HP:0003546	Exercise intolerance	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		48
HP:0025142	HP:0012378	Fatigue	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		48
HP:0025142	HP:0012531	Pain	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0025142	HP:0012378	Fatigue	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0025142	HP:0012531	Pain	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0025142	HP:0025406	Asthenia	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040281 - Very frequent		46
HP:0025142	HP:0012531	Pain	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0025142	HP:0031058	Impairment of activities of daily living	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0025142	HP:0012378	Fatigue	1	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2	.		12
HP:0025142	HP:0012531	Pain	1	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2			12
HP:0025142	HP:0012531	Pain	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0025142	HP:0012378	Fatigue	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		162
HP:0025142	HP:0012531	Pain	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0025142	HP:0012531	Pain	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0025142	HP:0031058	Impairment of activities of daily living	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0025142	HP:0012378	Fatigue	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0025142	HP:0012531	Pain	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0025142	HP:0012378	Fatigue	1	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		43
HP:0025142	HP:0012531	Pain	1	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		342
HP:0025142	HP:0012531	Pain	1	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		106
HP:0025142	HP:0012531	Pain	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0025142	HP:0025143	Chills	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional		563
HP:0025142	HP:0012531	Pain	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0025142	HP:0001699	Sudden death	1	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9			406
HP:0025142	HP:0012531	Pain	1	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			118
HP:0025142	HP:0012531	Pain	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated			21
HP:0025142	HP:0012378	Fatigue	1	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040283 - Occasional		759
HP:0025142	HP:0012531	Pain	1	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0025142	HP:0025406	Asthenia	1	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0025142	HP:0012378	Fatigue	1	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0025142	HP:0012531	Pain	1	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18			57
HP:0025142	HP:0031058	Impairment of activities of daily living	1	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2			60
HP:0025142	HP:0100758	Gangrene	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare		3
HP:0025142	HP:0012378	Fatigue	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		3
HP:0025142	HP:0012531	Pain	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0025142	HP:0012531	Pain	1	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A			79
HP:0025142	HP:0012378	Fatigue	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		56
HP:0025142	HP:0012531	Pain	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0025142	HP:0012378	Fatigue	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		1121
HP:0025142	HP:0012531	Pain	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0025142	HP:0003546	Exercise intolerance	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0025142	HP:0012531	Pain	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0025142	HP:0012531	Pain	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0025142	HP:0012531	Pain	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0025142	HP:0012378	Fatigue	1	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.		3
HP:0025142	HP:0012531	Pain	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0025142	HP:0012378	Fatigue	1	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		6
HP:0025142	HP:0012531	Pain	1	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature			1129
HP:0025142	HP:0003546	Exercise intolerance	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		464
HP:0025142	HP:0012378	Fatigue	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		464
HP:0025142	HP:0012531	Pain	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0025142	HP:0003546	Exercise intolerance	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0025142	HP:0012531	Pain	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0025142	HP:0012531	Pain	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0025142	HP:0012531	Pain	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0025142	HP:0003546	Exercise intolerance	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.		464
HP:0025142	HP:0003546	Exercise intolerance	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0025142	HP:0003546	Exercise intolerance	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0025142	HP:0003546	Exercise intolerance	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		45
HP:0025142	HP:0012378	Fatigue	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		45
HP:0025142	HP:0012531	Pain	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0025142	HP:0003546	Exercise intolerance	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.		45
HP:0025142	HP:0012531	Pain	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0025142	HP:0003546	Exercise intolerance	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0025142	HP:0012531	Pain	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0025142	HP:0031058	Impairment of activities of daily living	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0025142	HP:0012378	Fatigue	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0025142	HP:0012531	Pain	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0025142	HP:0012378	Fatigue	1	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	.		180
HP:0025142	HP:0012531	Pain	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0025142	HP:0012531	Pain	1	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			213
HP:0025142	HP:0012531	Pain	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0025142	HP:0012378	Fatigue	1	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0025142	HP:0012531	Pain	1	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0025142	HP:0012378	Fatigue	1	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		2
HP:0025142	HP:0012531	Pain	1	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		2
HP:0025142	HP:0012378	Fatigue	1	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0025142	HP:0012531	Pain	1	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0025142	HP:0012531	Pain	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0025142	HP:0012378	Fatigue	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		36
HP:0025142	HP:0012378	Fatigue	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		36
HP:0025142	HP:0012378	Fatigue	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0025142	HP:0012531	Pain	1	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma			2
HP:0025142	HP:0001699	Sudden death	1	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile			8
HP:0025142	HP:0012531	Pain	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0025142	HP:0012378	Fatigue	1	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0025142	HP:0012531	Pain	1	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0025142	HP:0012531	Pain	1	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata			41
HP:0025142	HP:0012531	Pain	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0025142	HP:0012378	Fatigue	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0025142	HP:0012531	Pain	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0025142	HP:0012531	Pain	1	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2			58
HP:0025142	HP:0031058	Impairment of activities of daily living	1	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10			1
HP:0025142	HP:0012378	Fatigue	1	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040282 - Frequent		7
HP:0025142	HP:0012531	Pain	1	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6			235
HP:0025142	HP:0001699	Sudden death	1	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME			235
HP:0025142	HP:0100758	Gangrene	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare		134
HP:0025142	HP:0012378	Fatigue	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		134
HP:0025142	HP:0012531	Pain	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0025142	HP:0012531	Pain	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma			134
HP:0025142	HP:0012531	Pain	1	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0025142	HP:0012531	Pain	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0025142	HP:0012531	Pain	1	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease			63
HP:0025142	HP:0012531	Pain	1	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts			63
HP:0025142	HP:0012531	Pain	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			41
HP:0025142	HP:0012531	Pain	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16			37
HP:0025142	HP:0012531	Pain	1	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16			37
HP:0025142	HP:0012531	Pain	1	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease			69
HP:0025142	HP:0012531	Pain	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0025142	HP:0100758	Gangrene	1	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency	HP:0040283 - Occasional		65
HP:0025142	HP:0012378	Fatigue	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		34
HP:0025142	HP:0012378	Fatigue	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		54
HP:0025142	HP:0012378	Fatigue	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		54
HP:0025142	HP:0012378	Fatigue	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent		54
HP:0025142	HP:0025406	Asthenia	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0025142	HP:0012531	Pain	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0025142	HP:0100758	Gangrene	1	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040283 - Occasional		75
HP:0025142	HP:0012378	Fatigue	1	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		25
HP:0025142	HP:0012531	Pain	1	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		25
HP:0025142	HP:0012531	Pain	1	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis			51
HP:0025142	HP:0012531	Pain	1	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary			51
HP:0025142	HP:0012531	Pain	1	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis			1
HP:0025142	HP:0012531	Pain	1	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary			1
HP:0025142	HP:0100758	Gangrene	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0025142	HP:0012378	Fatigue	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0025142	HP:0012531	Pain	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0025142	HP:0012378	Fatigue	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0025142	HP:0012531	Pain	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0025142	HP:0031058	Impairment of activities of daily living	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency			81
HP:0025142	HP:0031058	Impairment of activities of daily living	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0025142	HP:0031058	Impairment of activities of daily living	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0025142	HP:0031058	Impairment of activities of daily living	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0025142	HP:0012531	Pain	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0025142	HP:0012531	Pain	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0025142	HP:0012531	Pain	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0025142	HP:0012378	Fatigue	1	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	HP:0040281 - Very frequent		96
HP:0025142	HP:0012531	Pain	1	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome			96
HP:0025142	HP:0012531	Pain	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0025142	HP:0001699	Sudden death	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0025142	HP:0012531	Pain	1	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome			58
HP:0025142	HP:0012531	Pain	1	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease			58
HP:0025142	HP:0012531	Pain	1	PTPN11 CL E G H	5781	9644	ORPHA:2499	Metachondromatosis			291
HP:0025142	HP:0012531	Pain	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0025142	HP:0001699	Sudden death	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0025142	HP:0100758	Gangrene	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0025142	HP:0012378	Fatigue	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent		3
HP:0025142	HP:0012531	Pain	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0025142	HP:0100758	Gangrene	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		3
HP:0025142	HP:0012378	Fatigue	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		3
HP:0025142	HP:0012531	Pain	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0025142	HP:0012378	Fatigue	1	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0025142	HP:0012531	Pain	1	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0025142	HP:0012531	Pain	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0025142	HP:0012378	Fatigue	1	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma	HP:0040282 - Frequent		1
HP:0025142	HP:0012531	Pain	1	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma			1
HP:0025142	HP:0012531	Pain	1	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			2
HP:0025142	HP:0003546	Exercise intolerance	1	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.		57
HP:0025142	HP:0003546	Exercise intolerance	1	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0025142	HP:0003546	Exercise intolerance	1	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040281 - Very frequent		166
HP:0025142	HP:0012378	Fatigue	1	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040283 - Occasional		166
HP:0025142	HP:0012531	Pain	1	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency			166
HP:0025142	HP:0003546	Exercise intolerance	1	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V			166
HP:0025142	HP:0012531	Pain	1	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V			166
HP:0025142	HP:0012378	Fatigue	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0025142	HP:0012531	Pain	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0025142	HP:0012378	Fatigue	1	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome			25
HP:0025142	HP:0012531	Pain	1	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements			9
HP:0025142	HP:0012378	Fatigue	1	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0025142	HP:0100758	Gangrene	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare		2
HP:0025142	HP:0012378	Fatigue	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		2
HP:0025142	HP:0012531	Pain	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0025142	HP:0012531	Pain	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional		88
HP:0025142	HP:0012531	Pain	1	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent		365
HP:0025142	HP:0012531	Pain	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0025142	HP:0001699	Sudden death	1	RBM20 CL E G H	282996	27424	OMIM:613172	Cardiomyopathy, dilated, 1dd			363
HP:0025142	HP:0012531	Pain	1	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72	HP:0040283 - Occasional		3
HP:0025142	HP:0012531	Pain	1	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma	HP:0040282 - Frequent		1
HP:0025142	HP:0012531	Pain	1	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma			7
HP:0025142	HP:0012378	Fatigue	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		572
HP:0025142	HP:0012531	Pain	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0025142	HP:0012531	Pain	1	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease			572
HP:0025142	HP:0012531	Pain	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA			572
HP:0025142	HP:0012378	Fatigue	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		572
HP:0025142	HP:0012531	Pain	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0025142	HP:0031058	Impairment of activities of daily living	1	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB			54
HP:0025142	HP:0001699	Sudden death	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0025142	HP:0012378	Fatigue	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0025142	HP:0012531	Pain	1	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0025142	HP:0003546	Exercise intolerance	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040281 - Very frequent		3
HP:0025142	HP:0012531	Pain	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0025142	HP:0003546	Exercise intolerance	1	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	.		3
HP:0025142	HP:0012531	Pain	1	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2			3
HP:0025142	HP:0012531	Pain	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0025142	HP:0031058	Impairment of activities of daily living	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0025142	HP:0012531	Pain	1	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus			3
HP:0025142	HP:0012531	Pain	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome			15
HP:0025142	HP:0012378	Fatigue	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent		1
HP:0025142	HP:0012531	Pain	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0025142	HP:0012531	Pain	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0025142	HP:0031058	Impairment of activities of daily living	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0025142	HP:0003546	Exercise intolerance	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040281 - Very frequent		125
HP:0025142	HP:0012531	Pain	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0025142	HP:0003546	Exercise intolerance	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		125
HP:0025142	HP:0012378	Fatigue	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		125
HP:0025142	HP:0012531	Pain	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0025142	HP:0012531	Pain	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0025142	HP:0003546	Exercise intolerance	1	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	.		125
HP:0025142	HP:0012378	Fatigue	1	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0025142	HP:0003546	Exercise intolerance	1	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11	.		58
HP:0025142	HP:0003546	Exercise intolerance	1	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0025142	HP:0031058	Impairment of activities of daily living	1	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70			2
HP:0025142	HP:0031058	Impairment of activities of daily living	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12			25
HP:0025142	HP:0031058	Impairment of activities of daily living	1	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant			25
HP:0025142	HP:0012378	Fatigue	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		181
HP:0025142	HP:0012531	Pain	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0025142	HP:0012378	Fatigue	1	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent		181
HP:0025142	HP:0012531	Pain	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0025142	HP:0031058	Impairment of activities of daily living	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0025142	HP:0012378	Fatigue	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040282 - Frequent		1200
HP:0025142	HP:0012531	Pain	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0025142	HP:0012531	Pain	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0025142	HP:0001699	Sudden death	1	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2	.		1103
HP:0025142	HP:0001699	Sudden death	1	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA			1103
HP:0025142	HP:0001699	Sudden death	1	RYR2 CL E G H	6262	10484	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			1103
HP:0025142	HP:0001699	Sudden death	1	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			1103
HP:0025142	HP:0012531	Pain	1	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis			2
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0025142	HP:0012531	Pain	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0025142	HP:0001699	Sudden death	1	SCN10A CL E G H	6336	10582	ORPHA:101016	Romano-Ward syndrome			146
HP:0025142	HP:0012531	Pain	1	SCN11A CL E G H	11280	10583	OMIM:615552	Episodic pain syndrome, familial, 3	.		19
HP:0025142	HP:0001699	Sudden death	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0025142	HP:0012531	Pain	1	SCN1B CL E G H	6324	10586	ORPHA:871	Familial progressive cardiac conduction defect			126
HP:0025142	HP:0012531	Pain	1	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia			263
HP:0025142	HP:0012531	Pain	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis			263
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis			263
HP:0025142	HP:0012378	Fatigue	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040283 - Occasional		263
HP:0025142	HP:0012531	Pain	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans			263
HP:0025142	HP:0012531	Pain	1	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens			263
HP:0025142	HP:0012531	Pain	1	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated			263
HP:0025142	HP:0012531	Pain	1	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg			263
HP:0025142	HP:0012531	Pain	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg			263
HP:0025142	HP:0001699	Sudden death	1	SCN4B CL E G H	6330	10592	OMIM:611819	Long QT syndrome 10			110
HP:0025142	HP:0001699	Sudden death	1	SCN4B CL E G H	6330	10592	ORPHA:101016	Romano-Ward syndrome			110
HP:0025142	HP:0003546	Exercise intolerance	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill			1134
HP:0025142	HP:0012378	Fatigue	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent		1134
HP:0025142	HP:0001699	Sudden death	1	SCN5A CL E G H	6331	10593	OMIM:601144	BRUGADA SYNDROME 1; BRGDA1			1134
HP:0025142	HP:0012531	Pain	1	SCN5A CL E G H	6331	10593	ORPHA:871	Familial progressive cardiac conduction defect			1134
HP:0025142	HP:0001699	Sudden death	1	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3			1134
HP:0025142	HP:0001699	Sudden death	1	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA	.		1134
HP:0025142	HP:0001699	Sudden death	1	SCN5A CL E G H	6331	10593	ORPHA:101016	Romano-Ward syndrome			1134
HP:0025142	HP:0001699	Sudden death	1	SCN5A CL E G H	6331	10593	OMIM:272120	Sudden infant death syndrome	.		1134
HP:0025142	HP:0001699	Sudden death	1	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13			357
HP:0025142	HP:0012531	Pain	1	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.		318
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive			318
HP:0025142	HP:0012531	Pain	1	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder			318
HP:0025142	HP:0100812	Halitosis	1	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional		67
HP:0025142	HP:0012531	Pain	1	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis			67
HP:0025142	HP:0012378	Fatigue	1	SCNN1A CL E G H	6337	10599	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent		67
HP:0025142	HP:0100812	Halitosis	1	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional		61
HP:0025142	HP:0012531	Pain	1	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis			61
HP:0025142	HP:0012378	Fatigue	1	SCNN1B CL E G H	6338	10600	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent		61
HP:0025142	HP:0100812	Halitosis	1	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional		57
HP:0025142	HP:0012531	Pain	1	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis			57
HP:0025142	HP:0012378	Fatigue	1	SCNN1G CL E G H	6340	10602	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent		57
HP:0025142	HP:0012378	Fatigue	1	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent		304
HP:0025142	HP:0012378	Fatigue	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		304
HP:0025142	HP:0012531	Pain	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0025142	HP:0003546	Exercise intolerance	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0025142	HP:0012378	Fatigue	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0025142	HP:0012531	Pain	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0025142	HP:0012378	Fatigue	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		55
HP:0025142	HP:0012531	Pain	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0025142	HP:0012531	Pain	1	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome			237
HP:0025142	HP:0012378	Fatigue	1	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent		237
HP:0025142	HP:0012378	Fatigue	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		237
HP:0025142	HP:0012531	Pain	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0025142	HP:0012378	Fatigue	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		237
HP:0025142	HP:0012531	Pain	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0025142	HP:0012531	Pain	1	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome			147
HP:0025142	HP:0012378	Fatigue	1	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent		147
HP:0025142	HP:0012378	Fatigue	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		147
HP:0025142	HP:0012531	Pain	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0025142	HP:0012531	Pain	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome			129
HP:0025142	HP:0030166	Night sweats	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040282 - Frequent		129
HP:0025142	HP:0012531	Pain	1	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome			129
HP:0025142	HP:0012378	Fatigue	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		129
HP:0025142	HP:0012531	Pain	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0025142	HP:0012378	Fatigue	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		129
HP:0025142	HP:0012531	Pain	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0025142	HP:0100758	Gangrene	1	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		2
HP:0025142	HP:0012531	Pain	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0025142	HP:0012531	Pain	1	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease			137
HP:0025142	HP:0100812	Halitosis	1	SELENBP1 CL E G H	8991	10719	OMIM:618148	Extraoral halitosis due to MTO deficiency	.
HP:0025142	HP:0012378	Fatigue	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		144
HP:0025142	HP:0012531	Pain	1	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease			1
HP:0025142	HP:0012531	Pain	1	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease			2
HP:0025142	HP:0012378	Fatigue	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent		48
HP:0025142	HP:0012531	Pain	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0025142	HP:0012378	Fatigue	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0025142	HP:0012531	Pain	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0025142	HP:0012531	Pain	1	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy
HP:0025142	HP:0025406	Asthenia	1	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency			4
HP:0025142	HP:0012378	Fatigue	1	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency	.		4
HP:0025142	HP:0012531	Pain	1	SERPINF2 CL E G H	5345	9075	ORPHA:79	Congenital alpha2-antiplasmin deficiency			8
HP:0025142	HP:0012531	Pain	1	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1			64
HP:0025142	HP:0012531	Pain	1	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1			64
HP:0025142	HP:0012531	Pain	1	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma			19
HP:0025142	HP:0012531	Pain	1	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease			3
HP:0025142	HP:0001699	Sudden death	1	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L			223
HP:0025142	HP:0012378	Fatigue	1	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.		4
HP:0025142	HP:0012531	Pain	1	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia			4
HP:0025142	HP:0012531	Pain	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0025142	HP:0001699	Sudden death	1	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0025142	HP:0012531	Pain	1	SI CL E G H	6476	10856	ORPHA:35122	Congenital sucrase-isomaltase deficiency			98
HP:0025142	HP:0012531	Pain	1	SI CL E G H	6476	10856	OMIM:222900	Sucrase-isomaltase deficiency, congenital			98
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0025142	HP:0012378	Fatigue	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0025142	HP:0012378	Fatigue	1	SLC11A1 CL E G H	6556	10907	ORPHA:3389	Tuberculosis	HP:0040282 - Frequent		2
HP:0025142	HP:0012378	Fatigue	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0025142	HP:0012531	Pain	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0025142	HP:0012531	Pain	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0025142	HP:0012378	Fatigue	1	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent		2
HP:0025142	HP:0012378	Fatigue	1	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0025142	HP:0003546	Exercise intolerance	1	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.		2
HP:0025142	HP:0012378	Fatigue	1	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.		2
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1			70
HP:0025142	HP:0003546	Exercise intolerance	1	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia			56
HP:0025142	HP:0012531	Pain	1	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia			56
HP:0025142	HP:0012378	Fatigue	1	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0025142	HP:0012531	Pain	1	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0025142	HP:0012378	Fatigue	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0025142	HP:0030166	Night sweats	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent		82
HP:0025142	HP:0012378	Fatigue	1	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0025142	HP:0012531	Pain	1	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0025142	HP:0003546	Exercise intolerance	1	SLC25A32 CL E G H	81034	29683	OMIM:616839	EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE; RREI			3
HP:0025142	HP:0003546	Exercise intolerance	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		68
HP:0025142	HP:0012378	Fatigue	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		68
HP:0025142	HP:0012531	Pain	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0025142	HP:0003546	Exercise intolerance	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)	.		68
HP:0025142	HP:0012378	Fatigue	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0025142	HP:0012531	Pain	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0025142	HP:0003546	Exercise intolerance	1	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	.		68
HP:0025142	HP:0012531	Pain	1	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4			166
HP:0025142	HP:0012531	Pain	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0025142	HP:0012378	Fatigue	1	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		274
HP:0025142	HP:0012378	Fatigue	1	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent		274
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy			255
HP:0025142	HP:0012378	Fatigue	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent		178
HP:0025142	HP:0003546	Exercise intolerance	1	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia			57
HP:0025142	HP:0012531	Pain	1	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia			57
HP:0025142	HP:0012531	Pain	1	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			47
HP:0025142	HP:0012531	Pain	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0025142	HP:0012378	Fatigue	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040282 - Frequent		7
HP:0025142	HP:0012531	Pain	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0025142	HP:0012531	Pain	1	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			52
HP:0025142	HP:0012531	Pain	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0025142	HP:0012531	Pain	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0025142	HP:0012378	Fatigue	1	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040282 - Frequent		55
HP:0025142	HP:0012531	Pain	1	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4			56
HP:0025142	HP:0012378	Fatigue	1	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0025142	HP:0012531	Pain	1	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0025142	HP:0012378	Fatigue	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0025142	HP:0012531	Pain	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0025142	HP:0025143	Chills	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		109
HP:0025142	HP:0012531	Pain	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0025142	HP:0012531	Pain	1	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0025142	HP:0001699	Sudden death	1	SLC4A3 CL E G H	6508	11029	ORPHA:51083	Familial short QT syndrome			7
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0025142	HP:0012531	Pain	1	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant			13
HP:0025142	HP:0012531	Pain	1	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2			13
HP:0025142	HP:0012531	Pain	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0025142	HP:0012531	Pain	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			7
HP:0025142	HP:0012378	Fatigue	1	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0025142	HP:0012531	Pain	1	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0025142	HP:0012378	Fatigue	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0025142	HP:0012531	Pain	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			260
HP:0025142	HP:0001699	Sudden death	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0025142	HP:0012378	Fatigue	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0025142	HP:0012378	Fatigue	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0025142	HP:0012531	Pain	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0025142	HP:0012531	Pain	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			504
HP:0025142	HP:0012531	Pain	1	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome			504
HP:0025142	HP:0012531	Pain	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0025142	HP:0012531	Pain	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0025142	HP:0012531	Pain	1	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease			22
HP:0025142	HP:0012531	Pain	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0025142	HP:0012531	Pain	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0025142	HP:0001699	Sudden death	1	SNTA1 CL E G H	6640	11167	ORPHA:101016	Romano-Ward syndrome			118
HP:0025142	HP:0012531	Pain	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0025142	HP:0012378	Fatigue	1	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		53
HP:0025142	HP:0012531	Pain	1	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		53
HP:0025142	HP:0001699	Sudden death	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26
HP:0025142	HP:0012531	Pain	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0025142	HP:0012531	Pain	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0025142	HP:0012531	Pain	1	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome			61
HP:0025142	HP:0012378	Fatigue	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		33
HP:0025142	HP:0012378	Fatigue	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent		24
HP:0025142	HP:0012378	Fatigue	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		24
HP:0025142	HP:0012531	Pain	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile			287
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0025142	HP:0012531	Pain	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7			171
HP:0025142	HP:0012378	Fatigue	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0025142	HP:0012531	Pain	1	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis			34
HP:0025142	HP:0012531	Pain	1	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary			34
HP:0025142	HP:0012531	Pain	1	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis			34
HP:0025142	HP:0012531	Pain	1	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0025142	HP:0012531	Pain	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0025142	HP:0025143	Chills	1	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		228
HP:0025142	HP:0012531	Pain	1	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0025142	HP:0025143	Chills	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		228
HP:0025142	HP:0012531	Pain	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0025142	HP:0025143	Chills	1	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		156
HP:0025142	HP:0012531	Pain	1	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0025142	HP:0025143	Chills	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		156
HP:0025142	HP:0012531	Pain	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0025142	HP:0012378	Fatigue	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0025142	HP:0012531	Pain	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0025142	HP:0012531	Pain	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			54
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			54
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0025142	HP:0012531	Pain	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			149
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			149
HP:0025142	HP:0012378	Fatigue	1	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0025142	HP:0012531	Pain	1	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset			62
HP:0025142	HP:0012531	Pain	1	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3			62
HP:0025142	HP:0012531	Pain	1	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease			1
HP:0025142	HP:0012531	Pain	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0025142	HP:0012378	Fatigue	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		1
HP:0025142	HP:0012531	Pain	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0025142	HP:0012378	Fatigue	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		1
HP:0025142	HP:0012531	Pain	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0025142	HP:0012378	Fatigue	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0025142	HP:0012531	Pain	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0025142	HP:0012378	Fatigue	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0025142	HP:0100758	Gangrene	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare		110
HP:0025142	HP:0012378	Fatigue	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		110
HP:0025142	HP:0012531	Pain	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0025142	HP:0100758	Gangrene	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0025142	HP:0012378	Fatigue	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		2
HP:0025142	HP:0012531	Pain	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0025142	HP:0012531	Pain	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0025142	HP:0012531	Pain	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0025142	HP:0100758	Gangrene	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare		12
HP:0025142	HP:0012378	Fatigue	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0025142	HP:0012531	Pain	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0025142	HP:0012378	Fatigue	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040283 - Occasional		1
HP:0025142	HP:0012531	Pain	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0025142	HP:0030166	Night sweats	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare		1
HP:0025142	HP:0012378	Fatigue	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040282 - Frequent		1
HP:0025142	HP:0012531	Pain	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0025142	HP:0012531	Pain	1	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome			31
HP:0025142	HP:0012531	Pain	1	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy			31
HP:0025142	HP:0012531	Pain	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0025142	HP:0012531	Pain	1	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome			740
HP:0025142	HP:0012531	Pain	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome			740
HP:0025142	HP:0012531	Pain	1	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0025142	HP:0031058	Impairment of activities of daily living	1	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0025142	HP:0012531	Pain	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0025142	HP:0001699	Sudden death	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0025142	HP:0100758	Gangrene	1	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		4
HP:0025142	HP:0003546	Exercise intolerance	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0025142	HP:0003546	Exercise intolerance	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0025142	HP:0012531	Pain	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0025142	HP:0012531	Pain	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0025142	HP:0001699	Sudden death	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0025142	HP:0012531	Pain	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0025142	HP:0031058	Impairment of activities of daily living	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0025142	HP:0001699	Sudden death	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0025142	HP:0012531	Pain	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0025142	HP:0012378	Fatigue	1	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		9
HP:0025142	HP:0001699	Sudden death	1	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040283 - Occasional		11
HP:0025142	HP:0012378	Fatigue	1	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0025142	HP:0003546	Exercise intolerance	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0025142	HP:0012378	Fatigue	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0025142	HP:0012378	Fatigue	1	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		65
HP:0025142	HP:0012531	Pain	1	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		65
HP:0025142	HP:0012531	Pain	1	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0025142	HP:0031058	Impairment of activities of daily living	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0025142	HP:0031058	Impairment of activities of daily living	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0025142	HP:0012378	Fatigue	1	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0025142	HP:0012531	Pain	1	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0025142	HP:0025143	Chills	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		20
HP:0025142	HP:0012378	Fatigue	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		20
HP:0025142	HP:0100758	Gangrene	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare		22
HP:0025142	HP:0012378	Fatigue	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		22
HP:0025142	HP:0012531	Pain	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0025142	HP:0001699	Sudden death	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0025142	HP:0031058	Impairment of activities of daily living	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0025142	HP:0012531	Pain	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0025142	HP:0031058	Impairment of activities of daily living	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0025142	HP:0012531	Pain	1	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2			5
HP:0025142	HP:0012378	Fatigue	1	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040281 - Very frequent		57
HP:0025142	HP:0003546	Exercise intolerance	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		20
HP:0025142	HP:0012378	Fatigue	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		20
HP:0025142	HP:0001699	Sudden death	1	TBX5 CL E G H	6910	11604	ORPHA:101016	Romano-Ward syndrome			123
HP:0025142	HP:0012531	Pain	1	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5			19
HP:0025142	HP:0031058	Impairment of activities of daily living	1	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0025142	HP:0012378	Fatigue	1	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		2
HP:0025142	HP:0012531	Pain	1	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0025142	HP:0012378	Fatigue	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		241
HP:0025142	HP:0012531	Pain	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0025142	HP:0012531	Pain	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia			82
HP:0025142	HP:0012531	Pain	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0025142	HP:0012531	Pain	1	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0025142	HP:0001699	Sudden death	1	TECRL CL E G H	253017	27365	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			4
HP:0025142	HP:0001699	Sudden death	1	TECRL CL E G H	253017	27365	OMIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3	.		4
HP:0025142	HP:0012531	Pain	1	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus			78
HP:0025142	HP:0012531	Pain	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma			238
HP:0025142	HP:0012531	Pain	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0025142	HP:0031058	Impairment of activities of daily living	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0025142	HP:0012378	Fatigue	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		3
HP:0025142	HP:0012531	Pain	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0025142	HP:0012531	Pain	1	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia			3
HP:0025142	HP:0012378	Fatigue	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent		3
HP:0025142	HP:0012531	Pain	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0025142	HP:0012378	Fatigue	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		3
HP:0025142	HP:0012531	Pain	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis			3
HP:0025142	HP:0012378	Fatigue	1	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia	HP:0040282 - Frequent		3
HP:0025142	HP:0012378	Fatigue	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		3
HP:0025142	HP:0012531	Pain	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0025142	HP:0012378	Fatigue	1	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.		67
HP:0025142	HP:0012531	Pain	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0025142	HP:0012531	Pain	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0025142	HP:0012531	Pain	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			162
HP:0025142	HP:0012531	Pain	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0025142	HP:0001699	Sudden death	1	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1			85
HP:0025142	HP:0012531	Pain	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			85
HP:0025142	HP:0012531	Pain	1	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I			58
HP:0025142	HP:0012531	Pain	1	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0025142	HP:0012531	Pain	1	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy			58
HP:0025142	HP:0012531	Pain	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			239
HP:0025142	HP:0012531	Pain	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			253
HP:0025142	HP:0012378	Fatigue	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		253
HP:0025142	HP:0012531	Pain	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0025142	HP:0012531	Pain	1	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus			253
HP:0025142	HP:0100758	Gangrene	1	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		98
HP:0025142	HP:0030166	Night sweats	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		80
HP:0025142	HP:0012531	Pain	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0025142	HP:0012378	Fatigue	1	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0025142	HP:0025143	Chills	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		6
HP:0025142	HP:0012378	Fatigue	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		6
HP:0025142	HP:0031058	Impairment of activities of daily living	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0025142	HP:0031058	Impairment of activities of daily living	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0025142	HP:0003546	Exercise intolerance	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		103
HP:0025142	HP:0003546	Exercise intolerance	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent		103
HP:0025142	HP:0012378	Fatigue	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0025142	HP:0012531	Pain	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0025142	HP:0003546	Exercise intolerance	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional		6
HP:0025142	HP:0012378	Fatigue	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent		6
HP:0025142	HP:0003546	Exercise intolerance	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		6
HP:0025142	HP:0012378	Fatigue	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		6
HP:0025142	HP:0025143	Chills	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		3
HP:0025142	HP:0012378	Fatigue	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		3
HP:0025142	HP:0100758	Gangrene	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0025142	HP:0012378	Fatigue	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		3
HP:0025142	HP:0012531	Pain	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0025142	HP:0012531	Pain	1	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0025142	HP:0003546	Exercise intolerance	1	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29	.		4
HP:0025142	HP:0012531	Pain	1	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29			4
HP:0025142	HP:0012378	Fatigue	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		131
HP:0025142	HP:0012531	Pain	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0025142	HP:0001699	Sudden death	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0025142	HP:0001699	Sudden death	1	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5			171
HP:0025142	HP:0012531	Pain	1	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5			171
HP:0025142	HP:0001699	Sudden death	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0025142	HP:0012531	Pain	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0025142	HP:0012531	Pain	1	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis			72
HP:0025142	HP:0012531	Pain	1	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0025142	HP:0012531	Pain	1	TNFRSF11B CL E G H	4982	11909	ORPHA:1416	Familial calcium pyrophosphate deposition			44
HP:0025142	HP:0012531	Pain	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0025142	HP:0012531	Pain	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0025142	HP:0012531	Pain	1	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis			131
HP:0025142	HP:0012531	Pain	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0025142	HP:0012531	Pain	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0025142	HP:0100758	Gangrene	1	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome	HP:0040283 - Occasional
HP:0025142	HP:0012531	Pain	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0025142	HP:0012531	Pain	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0025142	HP:0012378	Fatigue	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0025142	HP:0001699	Sudden death	1	TNNC1 CL E G H	7134	11943	OMIM:611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z			73
HP:0025142	HP:0012531	Pain	1	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13			73
HP:0025142	HP:0001699	Sudden death	1	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1			180
HP:0025142	HP:0001699	Sudden death	1	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D	.		248
HP:0025142	HP:0012378	Fatigue	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional		71
HP:0025142	HP:0012378	Fatigue	1	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040282 - Frequent		134
HP:0025142	HP:0012531	Pain	1	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1			134
HP:0025142	HP:0012531	Pain	1	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like			134
HP:0025142	HP:0012531	Pain	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0025142	HP:0003546	Exercise intolerance	1	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0025142	HP:0012531	Pain	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma			911
HP:0025142	HP:0012531	Pain	1	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia			911
HP:0025142	HP:0012378	Fatigue	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0025142	HP:0012531	Pain	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0025142	HP:0012531	Pain	1	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent		911
HP:0025142	HP:0031058	Impairment of activities of daily living	1	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy			140
HP:0025142	HP:0001699	Sudden death	1	TPM1 CL E G H	7168	12010	OMIM:115196	Cardiomyopathy, familial hypertrophic, 3			230
HP:0025142	HP:0003546	Exercise intolerance	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		54
HP:0025142	HP:0012378	Fatigue	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		54
HP:0025142	HP:0003546	Exercise intolerance	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		108
HP:0025142	HP:0012378	Fatigue	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		108
HP:0025142	HP:0025143	Chills	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		2
HP:0025142	HP:0012378	Fatigue	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		2
HP:0025142	HP:0012531	Pain	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0025142	HP:0031058	Impairment of activities of daily living	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0025142	HP:0012531	Pain	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome			27
HP:0025142	HP:0012531	Pain	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0025142	HP:0012531	Pain	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0025142	HP:0012531	Pain	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0025142	HP:0012531	Pain	1	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked			46
HP:0025142	HP:0001699	Sudden death	1	TRDN CL E G H	10345	12261	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			145
HP:0025142	HP:0001699	Sudden death	1	TRDN CL E G H	10345	12261	ORPHA:101016	Romano-Ward syndrome			145
HP:0025142	HP:0001699	Sudden death	1	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			145
HP:0025142	HP:0012531	Pain	1	TREH CL E G H	11181	12266	ORPHA:103909	Trehalase deficiency			2
HP:0025142	HP:0012531	Pain	1	TREH CL E G H	11181	12266	OMIM:612119	Trehalase deficiency			2
HP:0025142	HP:0012378	Fatigue	1	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0025142	HP:0012531	Pain	1	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0025142	HP:0012531	Pain	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0025142	HP:0012531	Pain	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0025142	HP:0012531	Pain	1	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1			56
HP:0025142	HP:0012531	Pain	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0025142	HP:0012378	Fatigue	1	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7			2
HP:0025142	HP:0012378	Fatigue	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent		2
HP:0025142	HP:0012531	Pain	1	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma			2
HP:0025142	HP:0012531	Pain	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H			108
HP:0025142	HP:0012378	Fatigue	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0025142	HP:0031058	Impairment of activities of daily living	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0025142	HP:0012531	Pain	1	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma			2
HP:0025142	HP:0003546	Exercise intolerance	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.		4
HP:0025142	HP:0012531	Pain	1	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0025142	HP:0003546	Exercise intolerance	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040282 - Frequent
HP:0025142	HP:0012531	Pain	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0025142	HP:0003546	Exercise intolerance	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025142	HP:0003546	Exercise intolerance	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025142	HP:0012531	Pain	1	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0025142	HP:0003546	Exercise intolerance	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040282 - Frequent
HP:0025142	HP:0012378	Fatigue	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040283 - Occasional
HP:0025142	HP:0012531	Pain	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0025142	HP:0012531	Pain	1	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0025142	HP:0003546	Exercise intolerance	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025142	HP:0003546	Exercise intolerance	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0025142	HP:0003546	Exercise intolerance	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025142	HP:0003546	Exercise intolerance	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025142	HP:0003546	Exercise intolerance	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0025142	HP:0003546	Exercise intolerance	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025142	HP:0003546	Exercise intolerance	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0025142	HP:0012531	Pain	1	TRPA1 CL E G H	8989	497	OMIM:615040	Episodic pain syndrome, familial, 1	.		1
HP:0025142	HP:0012531	Pain	1	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			107
HP:0025142	HP:0012531	Pain	1	TRPM4 CL E G H	54795	17993	ORPHA:871	Familial progressive cardiac conduction defect			124
HP:0025142	HP:0012531	Pain	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0025142	HP:0012531	Pain	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0025142	HP:0012531	Pain	1	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head			214
HP:0025142	HP:0031058	Impairment of activities of daily living	1	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent		214
HP:0025142	HP:0031058	Impairment of activities of daily living	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0025142	HP:0012378	Fatigue	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		1090
HP:0025142	HP:0012531	Pain	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0025142	HP:0012378	Fatigue	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		2738
HP:0025142	HP:0012531	Pain	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0025142	HP:0012378	Fatigue	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent		9
HP:0025142	HP:0012378	Fatigue	1	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		97
HP:0025142	HP:0012378	Fatigue	1	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent		97
HP:0025142	HP:0030166	Night sweats	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		2
HP:0025142	HP:0001699	Sudden death	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome			1
HP:0025142	HP:0001699	Sudden death	1	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.		7128
HP:0025142	HP:0031058	Impairment of activities of daily living	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0025142	HP:0003546	Exercise intolerance	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		113
HP:0025142	HP:0012378	Fatigue	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		113
HP:0025142	HP:0012531	Pain	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0025142	HP:0003546	Exercise intolerance	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.		113
HP:0025142	HP:0012378	Fatigue	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.		113
HP:0025142	HP:0012531	Pain	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0025142	HP:0003546	Exercise intolerance	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0025142	HP:0012378	Fatigue	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0025142	HP:0012531	Pain	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0025142	HP:0012531	Pain	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0025142	HP:0012531	Pain	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0025142	HP:0012531	Pain	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0025142	HP:0031058	Impairment of activities of daily living	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0025142	HP:0012378	Fatigue	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0025142	HP:0012531	Pain	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0025142	HP:0030166	Night sweats	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0025142	HP:0100758	Gangrene	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0025142	HP:0012378	Fatigue	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0025142	HP:0012531	Pain	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0025142	HP:0031058	Impairment of activities of daily living	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0025142	HP:0012378	Fatigue	1	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0025142	HP:0012531	Pain	1	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0025142	HP:0001699	Sudden death	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0025142	HP:0012531	Pain	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0025142	HP:0031058	Impairment of activities of daily living	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0025142	HP:0012531	Pain	1	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0025142	HP:0012378	Fatigue	1	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0025142	HP:0012531	Pain	1	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0025142	HP:0012531	Pain	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0025142	HP:0012378	Fatigue	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0025142	HP:0025143	Chills	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		5
HP:0025142	HP:0012378	Fatigue	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		5
HP:0025142	HP:0031058	Impairment of activities of daily living	1	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence			111
HP:0025142	HP:0031058	Impairment of activities of daily living	1	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to			111
HP:0025142	HP:0012531	Pain	1	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele			111
HP:0025142	HP:0031058	Impairment of activities of daily living	1	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to			2
HP:0025142	HP:0012378	Fatigue	1	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		116
HP:0025142	HP:0012531	Pain	1	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		116
HP:0025142	HP:0012531	Pain	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation			63
HP:0025142	HP:0031058	Impairment of activities of daily living	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation			63
HP:0025142	HP:0012378	Fatigue	1	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		63
HP:0025142	HP:0012531	Pain	1	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		63
HP:0025142	HP:0012531	Pain	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1			63
HP:0025142	HP:0012531	Pain	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0025142	HP:0012531	Pain	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome			63
HP:0025142	HP:0012531	Pain	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0025142	HP:0012531	Pain	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0025142	HP:0012378	Fatigue	1	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2	.		490
HP:0025142	HP:0012378	Fatigue	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		490
HP:0025142	HP:0012531	Pain	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0025142	HP:0012378	Fatigue	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		490
HP:0025142	HP:0012531	Pain	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0025142	HP:0012531	Pain	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0025142	HP:0001699	Sudden death	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0025142	HP:0012531	Pain	1	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0025142	HP:0012531	Pain	1	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0025142	HP:0001699	Sudden death	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0025142	HP:0012378	Fatigue	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent		65
HP:0025142	HP:0012531	Pain	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0025142	HP:0031058	Impairment of activities of daily living	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8			83
HP:0025142	HP:0031058	Impairment of activities of daily living	1	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant			83
HP:0025142	HP:0001699	Sudden death	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0025142	HP:0012378	Fatigue	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent		6
HP:0025142	HP:0012531	Pain	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0025142	HP:0012531	Pain	1	WNT1 CL E G H	7471	12774	ORPHA:85193	Idiopathic juvenile osteoporosis			12
HP:0025142	HP:0012531	Pain	1	WNT3A CL E G H	89780	15983	ORPHA:85193	Idiopathic juvenile osteoporosis
HP:0025142	HP:0012531	Pain	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0025142	HP:0012531	Pain	1	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor			177
HP:0025142	HP:0012531	Pain	1	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			177
HP:0025142	HP:0012531	Pain	1	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma			177
HP:0025142	HP:0012531	Pain	1	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus			149
HP:0025142	HP:0012378	Fatigue	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		34
HP:0025142	HP:0012531	Pain	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0025142	HP:0012378	Fatigue	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		86
HP:0025142	HP:0012531	Pain	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0025142	HP:0003546	Exercise intolerance	1	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.		45
HP:0025142	HP:0012378	Fatigue	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040283 - Occasional		7
HP:0025142	HP:0100758	Gangrene	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare		1
HP:0025142	HP:0012378	Fatigue	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		1
HP:0025142	HP:0012531	Pain	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0025142	HP:0012531	Pain	1	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0025142	HP:0012531	Pain	1	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0025142	HP:0012531	Pain	1	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma	HP:0040282 - Frequent
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive			189
HP:0025142	HP:0012531	Pain	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0025142	HP:0031058	Impairment of activities of daily living	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0025142	HP:0012531	Pain	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0025142	HP:0012531	Pain	1	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6			2
HP:0025142	HP:0012531	Pain	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0025142	HP:0006649	Costochondral pain	2	CL E G H
HP:0025142	HP:0025096	Paroxysmal sneezing	2	CL E G H
HP:0025142	HP:0030155	Scrotal pain	2	CL E G H
HP:0025142	HP:0030943	Vulvodynia	2	CL E G H
HP:0025142	HP:0031059	Impaired ability to bathe oneself	2	CL E G H
HP:0025142	HP:0031062	Impaired transferring ability	2	CL E G H
HP:0025142	HP:0031063	Impaired feeding ability	2	CL E G H
HP:0025142	HP:0032142	Fetor hepaticus	2	CL E G H
HP:0025142	HP:0032171	Bladder pain	2	CL E G H
HP:0025142	HP:0033236	Cognitive fatigue	2	CL E G H
HP:0025142	HP:0033667	Diminished mental health	2	CL E G H
HP:0025142	HP:0033839	Testicular pain	2	CL E G H
HP:0025142	HP:0034265	Mastalgia	2	CL E G H
HP:0025142	HP:0034267	Pelvic pain	2	CL E G H
HP:0025142	HP:0410021	Musty odor	2	CL E G H
HP:0025142	HP:0002027	Abdominal pain	2	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040282 - Frequent		191
HP:0025142	HP:0001645	Sudden cardiac death	2	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis	HP:0040283 - Occasional		130
HP:0025142	HP:0002027	Abdominal pain	2	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		146
HP:0025142	HP:0002027	Abdominal pain	2	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		111
HP:0025142	HP:0002027	Abdominal pain	2	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0025142	HP:0002027	Abdominal pain	2	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040283 - Occasional		119
HP:0025142	HP:0002829	Arthralgia	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0025142	HP:0001645	Sudden cardiac death	2	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		415
HP:0025142	HP:0031064	Impaired continence	2	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0025142	HP:0003418	Back pain	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional		135
HP:0025142	HP:0031064	Impaired continence	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040281 - Very frequent		135
HP:0025142	HP:0002027	Abdominal pain	2	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		135
HP:0025142	HP:0001645	Sudden cardiac death	2	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		67
HP:0025142	HP:0002829	Arthralgia	2	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		67
HP:0025142	HP:0001645	Sudden cardiac death	2	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		76
HP:0025142	HP:0002829	Arthralgia	2	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		76
HP:0025142	HP:0002027	Abdominal pain	2	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.		76
HP:0025142	HP:0002829	Arthralgia	2	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.		76
HP:0025142	HP:0001645	Sudden cardiac death	2	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040283 - Occasional		98
HP:0025142	HP:0003326	Myalgia	2	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent		98
HP:0025142	HP:0003326	Myalgia	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0025142	HP:0001645	Sudden cardiac death	2	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency	.		200
HP:0025142	HP:0003326	Myalgia	2	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0025142	HP:0003326	Myalgia	2	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional		16
HP:0025142	HP:0009763	Limb pain	2	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0025142	HP:0031064	Impaired continence	2	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional		68
HP:0025142	HP:0100749	Chest pain	2	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		94
HP:0025142	HP:0100749	Chest pain	2	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0025142	HP:0002027	Abdominal pain	2	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.		23
HP:0025142	HP:0002027	Abdominal pain	2	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		27
HP:0025142	HP:0002027	Abdominal pain	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0025142	HP:0002829	Arthralgia	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0025142	HP:0003326	Myalgia	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0025142	HP:0100749	Chest pain	2	ADAMTS19 CL E G H	171019	17111	OMIM:620067				1
HP:0025142	HP:0031064	Impaired continence	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0025142	HP:0046506	Pain in head and neck region	2	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0025142	HP:0002653	Bone pain	2	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.		260
HP:0025142	HP:0002829	Arthralgia	2	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent		95
HP:0025142	HP:0001645	Sudden cardiac death	2	AKAP9 CL E G H	10142	379	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		289
HP:0025142	HP:0033345	Neuralgia	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0025142	HP:0003418	Back pain	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare		54
HP:0025142	HP:0046506	Pain in head and neck region	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0025142	HP:0031064	Impaired continence	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0025142	HP:0001645	Sudden cardiac death	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		54
HP:0025142	HP:0002027	Abdominal pain	2	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040282 - Frequent		62
HP:0025142	HP:0002027	Abdominal pain	2	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic			62
HP:0025142	HP:0003418	Back pain	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0025142	HP:0009763	Limb pain	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0025142	HP:0031064	Impaired continence	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0025142	HP:0031064	Impaired continence	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040282 - Frequent		89
HP:0025142	HP:0031064	Impaired continence	2	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0025142	HP:0031064	Impaired continence	2	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0025142	HP:0002027	Abdominal pain	2	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional		74
HP:0025142	HP:0003326	Myalgia	2	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional		74
HP:0025142	HP:0012432	Chronic fatigue	2	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040282 - Frequent		74
HP:0025142	HP:0003326	Myalgia	2	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040282 - Frequent		50
HP:0025142	HP:0002027	Abdominal pain	2	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.		73
HP:0025142	HP:0002027	Abdominal pain	2	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040281 - Very frequent		73
HP:0025142	HP:0001645	Sudden cardiac death	2	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2	.		3
HP:0025142	HP:0410019	Epigastric pain	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0025142	HP:0003326	Myalgia	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040284 - Very rare		404
HP:0025142	HP:0031064	Impaired continence	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0025142	HP:0031064	Impaired continence	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0025142	HP:0031064	Impaired continence	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0025142	HP:0031064	Impaired continence	2	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0025142	HP:0003326	Myalgia	2	AMPD1 CL E G H	270	468	ORPHA:45	Adenosine monophosphate deaminase deficiency	HP:0040281 - Very frequent		62
HP:0025142	HP:0003326	Myalgia	2	AMPD1 CL E G H	270	468	OMIM:615511	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD			62
HP:0025142	HP:0003326	Myalgia	2	AMPD3 CL E G H	272	470	ORPHA:45	Adenosine monophosphate deaminase deficiency	HP:0040281 - Very frequent		65
HP:0025142	HP:0002027	Abdominal pain	2	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		150
HP:0025142	HP:0003326	Myalgia	2	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		150
HP:0025142	HP:0001645	Sudden cardiac death	2	ANK2 CL E G H	287	493	OMIM:600919	Cardiac arrhythmia, ankyrin-b-related	.		539
HP:0025142	HP:0001645	Sudden cardiac death	2	ANK2 CL E G H	287	493	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		539
HP:0025142	HP:0002027	Abdominal pain	2	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002829	Arthralgia	2	ANKH CL E G H	56172	15492	ORPHA:1416	Familial calcium pyrophosphate deposition	HP:0040281 - Very frequent		164
HP:0025142	HP:0002829	Arthralgia	2	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0025142	HP:0003326	Myalgia	2	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		6
HP:0025142	HP:0003326	Myalgia	2	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040281 - Very frequent		304
HP:0025142	HP:0003326	Myalgia	2	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.		304
HP:0025142	HP:0002829	Arthralgia	2	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0025142	HP:0003418	Back pain	2	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0025142	HP:0002653	Bone pain	2	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.		6
HP:0025142	HP:0031064	Impaired continence	2	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48			165
HP:0025142	HP:0031064	Impaired continence	2	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive			165
HP:0025142	HP:0002027	Abdominal pain	2	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040282 - Frequent		3179
HP:0025142	HP:0100749	Chest pain	2	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional		3179
HP:0025142	HP:0002829	Arthralgia	2	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional		3179
HP:0025142	HP:0003326	Myalgia	2	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040282 - Frequent		3179
HP:0025142	HP:0002027	Abdominal pain	2	APC CL E G H	324	583	OMIM:619182	GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS			3179
HP:0025142	HP:0002027	Abdominal pain	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional		3179
HP:0025142	HP:0001645	Sudden cardiac death	2	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		356
HP:0025142	HP:0002829	Arthralgia	2	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		356
HP:0025142	HP:0002027	Abdominal pain	2	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		3
HP:0025142	HP:0002027	Abdominal pain	2	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency			19
HP:0025142	HP:0002027	Abdominal pain	2	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency			19
HP:0025142	HP:0030157	Flank pain	2	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional		19
HP:0025142	HP:0002027	Abdominal pain	2	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		4
HP:0025142	HP:0002027	Abdominal pain	2	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		3
HP:0025142	HP:0031064	Impaired continence	2	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0025142	HP:0031064	Impaired continence	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0025142	HP:0031064	Impaired continence	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0025142	HP:0031064	Impaired continence	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0025142	HP:0002829	Arthralgia	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0025142	HP:0003326	Myalgia	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		1
HP:0025142	HP:0031064	Impaired continence	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0025142	HP:0031064	Impaired continence	2	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0025142	HP:0002829	Arthralgia	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent		78
HP:0025142	HP:0002829	Arthralgia	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0025142	HP:0002829	Arthralgia	2	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis	.		2
HP:0025142	HP:0002027	Abdominal pain	2	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		145
HP:0025142	HP:0002653	Bone pain	2	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		145
HP:0025142	HP:0002829	Arthralgia	2	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		145
HP:0025142	HP:0002027	Abdominal pain	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		145
HP:0025142	HP:0002653	Bone pain	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		145
HP:0025142	HP:0002829	Arthralgia	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		145
HP:0025142	HP:0003326	Myalgia	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		145
HP:0025142	HP:0009763	Limb pain	2	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		71
HP:0025142	HP:0031060	Impaired ability to dress oneself	2	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent		71
HP:0025142	HP:0031064	Impaired continence	2	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0025142	HP:0009763	Limb pain	2	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		5
HP:0025142	HP:0031060	Impaired ability to dress oneself	2	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent		5
HP:0025142	HP:0031064	Impaired continence	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0025142	HP:0009763	Limb pain	2	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0025142	HP:0002027	Abdominal pain	2	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		192
HP:0025142	HP:0002653	Bone pain	2	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0025142	HP:0002829	Arthralgia	2	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0025142	HP:0003418	Back pain	2	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0025142	HP:0002027	Abdominal pain	2	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		144
HP:0025142	HP:0002027	Abdominal pain	2	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0025142	HP:0032148	Episodic pain	2	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0025142	HP:0031064	Impaired continence	2	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10			9
HP:0025142	HP:0031064	Impaired continence	2	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0025142	HP:0012532	Chronic pain	2	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.		14
HP:0025142	HP:0031064	Impaired continence	2	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0025142	HP:0031064	Impaired continence	2	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0025142	HP:0031064	Impaired continence	2	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0025142	HP:0009763	Limb pain	2	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis			8
HP:0025142	HP:0030834	Shoulder pain	2	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional		8
HP:0025142	HP:0033345	Neuralgia	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0025142	HP:0003418	Back pain	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare		184
HP:0025142	HP:0046506	Pain in head and neck region	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0025142	HP:0031064	Impaired continence	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0025142	HP:0100749	Chest pain	2	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma	HP:0040282 - Frequent		184
HP:0025142	HP:0046506	Pain in head and neck region	2	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma			184
HP:0025142	HP:0001645	Sudden cardiac death	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025142	HP:0002829	Arthralgia	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0025142	HP:0002027	Abdominal pain	2	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		18
HP:0025142	HP:0002027	Abdominal pain	2	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0025142	HP:0002829	Arthralgia	2	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0025142	HP:0001645	Sudden cardiac death	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025142	HP:0002829	Arthralgia	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0025142	HP:0002027	Abdominal pain	2	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		101
HP:0025142	HP:0002653	Bone pain	2	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		101
HP:0025142	HP:0031064	Impaired continence	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0025142	HP:0030973	Postexertional symptom exacerbation	2	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0025142	HP:0003326	Myalgia	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0025142	HP:0031064	Impaired continence	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0025142	HP:0002027	Abdominal pain	2	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.		13
HP:0025142	HP:0002027	Abdominal pain	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent
HP:0025142	HP:0002829	Arthralgia	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent		385
HP:0025142	HP:0002027	Abdominal pain	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent		385
HP:0025142	HP:0002027	Abdominal pain	2	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome			385
HP:0025142	HP:0031064	Impaired continence	2	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO			22
HP:0025142	HP:0031064	Impaired continence	2	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve			22
HP:0025142	HP:0002027	Abdominal pain	2	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma	HP:0040283 - Occasional		5769
HP:0025142	HP:0002027	Abdominal pain	2	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		5769
HP:0025142	HP:0003418	Back pain	2	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		5769
HP:0025142	HP:0012432	Chronic fatigue	2	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		5769
HP:0025142	HP:0002027	Abdominal pain	2	BRCA1 CL E G H	672	1100	ORPHA:168829	Primary peritoneal carcinoma	HP:0040281 - Very frequent		5769
HP:0025142	HP:0002027	Abdominal pain	2	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma	HP:0040283 - Occasional		7642
HP:0025142	HP:0002027	Abdominal pain	2	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		7642
HP:0025142	HP:0003418	Back pain	2	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		7642
HP:0025142	HP:0012432	Chronic fatigue	2	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		7642
HP:0025142	HP:0002027	Abdominal pain	2	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		7642
HP:0025142	HP:0009763	Limb pain	2	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17			105
HP:0025142	HP:0030838	Hip pain	2	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040283 - Occasional		105
HP:0025142	HP:0100749	Chest pain	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		1
HP:0025142	HP:0100749	Chest pain	2	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0025142	HP:0001645	Sudden cardiac death	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025142	HP:0002829	Arthralgia	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0025142	HP:0003326	Myalgia	2	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25	.		2
HP:0025142	HP:0031064	Impaired continence	2	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration			114
HP:0025142	HP:0002829	Arthralgia	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0025142	HP:0002829	Arthralgia	2	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	HP:0040283 - Occasional		7
HP:0025142	HP:0002027	Abdominal pain	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0025142	HP:0002829	Arthralgia	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0025142	HP:0003326	Myalgia	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0025142	HP:0031064	Impaired continence	2	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			94
HP:0025142	HP:0001645	Sudden cardiac death	2	CACNA1C CL E G H	775	1390	OMIM:611875	BRUGADA SYNDROME 3; BRGDA3			572
HP:0025142	HP:0001645	Sudden cardiac death	2	CACNA1C CL E G H	775	1390	OMIM:618447	LONG QT SYNDROME 8; LQT8			572
HP:0025142	HP:0001645	Sudden cardiac death	2	CACNA1C CL E G H	775	1390	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		572
HP:0025142	HP:0031064	Impaired continence	2	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0025142	HP:0031064	Impaired continence	2	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0025142	HP:0031064	Impaired continence	2	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy			75
HP:0025142	HP:0001645	Sudden cardiac death	2	CACNA2D1 CL E G H	781	1399	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional		59
HP:0025142	HP:0001645	Sudden cardiac death	2	CALM1 CL E G H	801	1442	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040283 - Occasional		18
HP:0025142	HP:0001645	Sudden cardiac death	2	CALM1 CL E G H	801	1442	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		18
HP:0025142	HP:0001645	Sudden cardiac death	2	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4			18
HP:0025142	HP:0001645	Sudden cardiac death	2	CALM2 CL E G H	805	1445	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040283 - Occasional		13
HP:0025142	HP:0001645	Sudden cardiac death	2	CALM2 CL E G H	805	1445	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		13
HP:0025142	HP:0001645	Sudden cardiac death	2	CALM3 CL E G H	808	1449	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040283 - Occasional		16
HP:0025142	HP:0001645	Sudden cardiac death	2	CALM3 CL E G H	808	1449	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		16
HP:0025142	HP:0002027	Abdominal pain	2	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		1
HP:0025142	HP:0100749	Chest pain	2	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		1
HP:0025142	HP:0030157	Flank pain	2	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		1
HP:0025142	HP:0031064	Impaired continence	2	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0025142	HP:0003326	Myalgia	2	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4	.		323
HP:0025142	HP:0003418	Back pain	2	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4	.		323
HP:0025142	HP:0002027	Abdominal pain	2	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30			1
HP:0025142	HP:0002027	Abdominal pain	2	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.		118
HP:0025142	HP:0003326	Myalgia	2	CASQ1 CL E G H	844	1512	OMIM:616231	Myopathy, vacuolar, with CASQ1 aggregates	.		5
HP:0025142	HP:0003326	Myalgia	2	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent		5
HP:0025142	HP:0001645	Sudden cardiac death	2	CASQ2 CL E G H	845	1513	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040283 - Occasional		129
HP:0025142	HP:0001645	Sudden cardiac death	2	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			129
HP:0025142	HP:0002027	Abdominal pain	2	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent		272
HP:0025142	HP:0002027	Abdominal pain	2	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		272
HP:0025142	HP:0002829	Arthralgia	2	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		11
HP:0025142	HP:0003326	Myalgia	2	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum			148
HP:0025142	HP:0003326	Myalgia	2	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040284 - Very rare		148
HP:0025142	HP:0100749	Chest pain	2	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9			148
HP:0025142	HP:0003326	Myalgia	2	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease			148
HP:0025142	HP:0001645	Sudden cardiac death	2	CAV3 CL E G H	859	1529	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		148
HP:0025142	HP:0003326	Myalgia	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0025142	HP:0002027	Abdominal pain	2	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		317
HP:0025142	HP:0002653	Bone pain	2	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		317
HP:0025142	HP:0002829	Arthralgia	2	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		317
HP:0025142	HP:0003326	Myalgia	2	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4	.		25
HP:0025142	HP:0031064	Impaired continence	2	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0025142	HP:0002829	Arthralgia	2	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0025142	HP:0002829	Arthralgia	2	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0025142	HP:0002653	Bone pain	2	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040282 - Frequent		1
HP:0025142	HP:0002027	Abdominal pain	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0025142	HP:0003418	Back pain	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0025142	HP:0009763	Limb pain	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0025142	HP:0002027	Abdominal pain	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0025142	HP:0002829	Arthralgia	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0025142	HP:0003326	Myalgia	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0025142	HP:0002829	Arthralgia	2	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0025142	HP:0002829	Arthralgia	2	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		38
HP:0025142	HP:0002829	Arthralgia	2	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0025142	HP:0002829	Arthralgia	2	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		8
HP:0025142	HP:0003326	Myalgia	2	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		8
HP:0025142	HP:0002027	Abdominal pain	2	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		105
HP:0025142	HP:0410019	Epigastric pain	2	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		39
HP:0025142	HP:0002027	Abdominal pain	2	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		39
HP:0025142	HP:0003418	Back pain	2	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		39
HP:0025142	HP:0030834	Shoulder pain	2	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		39
HP:0025142	HP:0002027	Abdominal pain	2	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.		9
HP:0025142	HP:0002829	Arthralgia	2	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		1
HP:0025142	HP:0002829	Arthralgia	2	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0025142	HP:0002027	Abdominal pain	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0025142	HP:0002653	Bone pain	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040283 - Occasional		169
HP:0025142	HP:0200025	Mandibular pain	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040283 - Occasional		169
HP:0025142	HP:0032148	Episodic pain	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0025142	HP:0002027	Abdominal pain	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0025142	HP:0002653	Bone pain	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040283 - Occasional		169
HP:0025142	HP:0200025	Mandibular pain	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040283 - Occasional		169
HP:0025142	HP:0032148	Episodic pain	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0025142	HP:0100749	Chest pain	2	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0025142	HP:0002027	Abdominal pain	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		2
HP:0025142	HP:0002027	Abdominal pain	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		102
HP:0025142	HP:0002027	Abdominal pain	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0025142	HP:0032148	Episodic pain	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0025142	HP:0002027	Abdominal pain	2	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		289
HP:0025142	HP:0002027	Abdominal pain	2	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		289
HP:0025142	HP:0003418	Back pain	2	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		289
HP:0025142	HP:0012432	Chronic fatigue	2	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		289
HP:0025142	HP:0002027	Abdominal pain	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		1
HP:0025142	HP:0002027	Abdominal pain	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0025142	HP:0002027	Abdominal pain	2	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain	.		3
HP:0025142	HP:0002027	Abdominal pain	2	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction	.		25
HP:0025142	HP:0031064	Impaired continence	2	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1			6
HP:0025142	HP:0410019	Epigastric pain	2	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		86
HP:0025142	HP:0002027	Abdominal pain	2	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		86
HP:0025142	HP:0003418	Back pain	2	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		86
HP:0025142	HP:0030834	Shoulder pain	2	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		86
HP:0025142	HP:0410019	Epigastric pain	2	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		57
HP:0025142	HP:0002027	Abdominal pain	2	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		57
HP:0025142	HP:0003418	Back pain	2	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		57
HP:0025142	HP:0030834	Shoulder pain	2	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		57
HP:0025142	HP:0002027	Abdominal pain	2	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		1371
HP:0025142	HP:0100749	Chest pain	2	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		1371
HP:0025142	HP:0002027	Abdominal pain	2	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.		1371
HP:0025142	HP:0003326	Myalgia	2	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0025142	HP:0031064	Impaired continence	2	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0025142	HP:0031064	Impaired continence	2	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			188
HP:0025142	HP:0031064	Impaired continence	2	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			225
HP:0025142	HP:0031064	Impaired continence	2	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			88
HP:0025142	HP:0002829	Arthralgia	2	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent		165
HP:0025142	HP:0002829	Arthralgia	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0025142	HP:0046506	Pain in head and neck region	2	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy			129
HP:0025142	HP:0002829	Arthralgia	2	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA			118
HP:0025142	HP:0001645	Sudden cardiac death	2	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		6
HP:0025142	HP:0003326	Myalgia	2	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant	HP:0040283 - Occasional		133
HP:0025142	HP:0003326	Myalgia	2	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive			133
HP:0025142	HP:0002653	Bone pain	2	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0025142	HP:0002653	Bone pain	2	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0025142	HP:0002653	Bone pain	2	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040281 - Very frequent		102
HP:0025142	HP:0002653	Bone pain	2	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0025142	HP:0003418	Back pain	2	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		102
HP:0025142	HP:0002027	Abdominal pain	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040282 - Frequent		27
HP:0025142	HP:0002829	Arthralgia	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0025142	HP:0003326	Myalgia	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0025142	HP:0031064	Impaired continence	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0025142	HP:0002027	Abdominal pain	2	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.		58
HP:0025142	HP:0001645	Sudden cardiac death	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025142	HP:0002829	Arthralgia	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0025142	HP:0002027	Abdominal pain	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent		38
HP:0025142	HP:0003326	Myalgia	2	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.		1
HP:0025142	HP:0031064	Impaired continence	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0025142	HP:0002829	Arthralgia	2	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040283 - Occasional		79
HP:0025142	HP:0002829	Arthralgia	2	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent		215
HP:0025142	HP:0002829	Arthralgia	2	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent		222
HP:0025142	HP:0002829	Arthralgia	2	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.		222
HP:0025142	HP:0002829	Arthralgia	2	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III			222
HP:0025142	HP:0046506	Pain in head and neck region	2	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0025142	HP:0002829	Arthralgia	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0025142	HP:0009763	Limb pain	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0025142	HP:0002829	Arthralgia	2	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent		284
HP:0025142	HP:0030838	Hip pain	2	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1			284
HP:0025142	HP:0031520	Groin pain	2	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1			284
HP:0025142	HP:0002829	Arthralgia	2	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.		284
HP:0025142	HP:0030838	Hip pain	2	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent		284
HP:0025142	HP:0031520	Groin pain	2	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040281 - Very frequent		284
HP:0025142	HP:0002829	Arthralgia	2	COL2A1 CL E G H	1280	2200	ORPHA:2380	Legg-Calvé-Perthes disease	HP:0040281 - Very frequent		284
HP:0025142	HP:0003418	Back pain	2	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0025142	HP:0009763	Limb pain	2	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0025142	HP:0002829	Arthralgia	2	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0025142	HP:0003418	Back pain	2	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional		284
HP:0025142	HP:0009763	Limb pain	2	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0025142	HP:0030838	Hip pain	2	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040282 - Frequent		284
HP:0025142	HP:0002829	Arthralgia	2	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	.		284
HP:0025142	HP:0009763	Limb pain	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		284
HP:0025142	HP:0002829	Arthralgia	2	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040282 - Frequent		284
HP:0025142	HP:0002829	Arthralgia	2	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0025142	HP:0100749	Chest pain	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0025142	HP:0002027	Abdominal pain	2	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		161
HP:0025142	HP:0002027	Abdominal pain	2	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0025142	HP:0100749	Chest pain	2	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		678
HP:0025142	HP:0002027	Abdominal pain	2	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0025142	HP:0100749	Chest pain	2	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		18
HP:0025142	HP:0002829	Arthralgia	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0025142	HP:0009763	Limb pain	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0025142	HP:0002829	Arthralgia	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0025142	HP:0009763	Limb pain	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0025142	HP:0012532	Chronic pain	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		263
HP:0025142	HP:0046506	Pain in head and neck region	2	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0025142	HP:0046506	Pain in head and neck region	2	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0025142	HP:0002829	Arthralgia	2	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6			110
HP:0025142	HP:0009763	Limb pain	2	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6			110
HP:0025142	HP:0009763	Limb pain	2	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0025142	HP:0030973	Postexertional symptom exacerbation	2	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent		110
HP:0025142	HP:0009763	Limb pain	2	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0025142	HP:0009763	Limb pain	2	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0025142	HP:0030973	Postexertional symptom exacerbation	2	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent		110
HP:0025142	HP:0009763	Limb pain	2	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0025142	HP:0009763	Limb pain	2	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			137
HP:0025142	HP:0030973	Postexertional symptom exacerbation	2	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent		137
HP:0025142	HP:0009763	Limb pain	2	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2			89
HP:0025142	HP:0009763	Limb pain	2	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0025142	HP:0009763	Limb pain	2	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0025142	HP:0030973	Postexertional symptom exacerbation	2	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040282 - Frequent		89
HP:0025142	HP:0002829	Arthralgia	2	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent		89
HP:0025142	HP:0002829	Arthralgia	2	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0025142	HP:0003326	Myalgia	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		6
HP:0025142	HP:0031064	Impaired continence	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0025142	HP:0002829	Arthralgia	2	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK			5
HP:0025142	HP:0031064	Impaired continence	2	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0025142	HP:0031064	Impaired continence	2	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to			54
HP:0025142	HP:0002027	Abdominal pain	2	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		35
HP:0025142	HP:0002027	Abdominal pain	2	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		5
HP:0025142	HP:0003326	Myalgia	2	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0025142	HP:0003326	Myalgia	2	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0025142	HP:0003326	Myalgia	2	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0025142	HP:0002027	Abdominal pain	2	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		5
HP:0025142	HP:0002027	Abdominal pain	2	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0025142	HP:0002027	Abdominal pain	2	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040281 - Very frequent		72
HP:0025142	HP:0003418	Back pain	2	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional		72
HP:0025142	HP:0009763	Limb pain	2	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040282 - Frequent		72
HP:0025142	HP:0001645	Sudden cardiac death	2	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040283 - Occasional		99
HP:0025142	HP:0031064	Impaired continence	2	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73			1
HP:0025142	HP:0003326	Myalgia	2	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040281 - Very frequent		101
HP:0025142	HP:0002027	Abdominal pain	2	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0025142	HP:0003326	Myalgia	2	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent		101
HP:0025142	HP:0032148	Episodic pain	2	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0025142	HP:0003326	Myalgia	2	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	.		101
HP:0025142	HP:0002829	Arthralgia	2	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		10
HP:0025142	HP:0033050	Pharyngalgia	2	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7			10
HP:0025142	HP:0003326	Myalgia	2	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7			10
HP:0025142	HP:0002027	Abdominal pain	2	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		12
HP:0025142	HP:0031064	Impaired continence	2	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			1
HP:0025142	HP:0031064	Impaired continence	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0025142	HP:0001645	Sudden cardiac death	2	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		24
HP:0025142	HP:0100749	Chest pain	2	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent		24
HP:0025142	HP:0003326	Myalgia	2	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0025142	HP:0003326	Myalgia	2	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040283 - Occasional
HP:0025142	HP:0001645	Sudden cardiac death	2	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12	.		104
HP:0025142	HP:0002027	Abdominal pain	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		10
HP:0025142	HP:0100749	Chest pain	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		10
HP:0025142	HP:0002829	Arthralgia	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		10
HP:0025142	HP:0003326	Myalgia	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		10
HP:0025142	HP:0002027	Abdominal pain	2	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		88
HP:0025142	HP:0002027	Abdominal pain	2	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040282 - Frequent		88
HP:0025142	HP:0100749	Chest pain	2	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional		88
HP:0025142	HP:0002829	Arthralgia	2	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional		88
HP:0025142	HP:0003326	Myalgia	2	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040282 - Frequent		88
HP:0025142	HP:0410019	Epigastric pain	2	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent		88
HP:0025142	HP:0002027	Abdominal pain	2	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent		88
HP:0025142	HP:0046506	Pain in head and neck region	2	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis			178
HP:0025142	HP:0002027	Abdominal pain	2	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		39
HP:0025142	HP:0002027	Abdominal pain	2	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.		39
HP:0025142	HP:0410019	Epigastric pain	2	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0025142	HP:0012532	Chronic pain	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0025142	HP:0002653	Bone pain	2	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent		60
HP:0025142	HP:0002653	Bone pain	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		41
HP:0025142	HP:0002653	Bone pain	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0025142	HP:0002653	Bone pain	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		5
HP:0025142	HP:0002653	Bone pain	2	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.		5
HP:0025142	HP:0031064	Impaired continence	2	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0025142	HP:0046506	Pain in head and neck region	2	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma			1
HP:0025142	HP:0002027	Abdominal pain	2	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0025142	HP:0031064	Impaired continence	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0025142	HP:0002027	Abdominal pain	2	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0025142	HP:0032148	Episodic pain	2	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0025142	HP:0100749	Chest pain	2	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040283 - Occasional		80
HP:0025142	HP:0003326	Myalgia	2	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional		36
HP:0025142	HP:0002829	Arthralgia	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		30
HP:0025142	HP:0031064	Impaired continence	2	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0025142	HP:0002027	Abdominal pain	2	DDIT3 CL E G H	1649	2726	ORPHA:99967	Myxoid/round cell liposarcoma	HP:0040283 - Occasional
HP:0025142	HP:0002829	Arthralgia	2	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040282 - Frequent
HP:0025142	HP:0031064	Impaired continence	2	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			172
HP:0025142	HP:0001645	Sudden cardiac death	2	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040283 - Occasional		263
HP:0025142	HP:0002027	Abdominal pain	2	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type			9
HP:0025142	HP:0003326	Myalgia	2	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040283 - Occasional		57
HP:0025142	HP:0002027	Abdominal pain	2	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		164
HP:0025142	HP:0046506	Pain in head and neck region	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0025142	HP:0031064	Impaired continence	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0025142	HP:0002653	Bone pain	2	DKK1 CL E G H	22943	2891	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040281 - Very frequent
HP:0025142	HP:0100749	Chest pain	2	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040282 - Frequent
HP:0025142	HP:0003418	Back pain	2	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0025142	HP:0002027	Abdominal pain	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0025142	HP:0100749	Chest pain	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0025142	HP:0032148	Episodic pain	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0025142	HP:0003326	Myalgia	2	DMD CL E G H	1756	2928	ORPHA:98895	Becker muscular dystrophy	HP:0040281 - Very frequent		1496
HP:0025142	HP:0003326	Myalgia	2	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type	.		1496
HP:0025142	HP:0003326	Myalgia	2	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0025142	HP:0410020	Fish odor	2	DMGDH CL E G H	29958	24475	ORPHA:243343	Dimethylglycine dehydrogenase deficiency	HP:0040281 - Very frequent		27
HP:0025142	HP:0410020	Fish odor	2	DMGDH CL E G H	29958	24475	OMIM:605850	DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD			27
HP:0025142	HP:0002653	Bone pain	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		48
HP:0025142	HP:0002027	Abdominal pain	2	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0025142	HP:0031064	Impaired continence	2	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0025142	HP:0003326	Myalgia	2	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent		41
HP:0025142	HP:0003326	Myalgia	2	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.		41
HP:0025142	HP:0003326	Myalgia	2	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E			103
HP:0025142	HP:0001645	Sudden cardiac death	2	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.		25
HP:0025142	HP:0001645	Sudden cardiac death	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025142	HP:0002829	Arthralgia	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0025142	HP:0003326	Myalgia	2	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional		2
HP:0025142	HP:0002027	Abdominal pain	2	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040282 - Frequent		3
HP:0025142	HP:0003326	Myalgia	2	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional		3
HP:0025142	HP:0003326	Myalgia	2	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		94
HP:0025142	HP:0003326	Myalgia	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0025142	HP:0031064	Impaired continence	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0025142	HP:0031064	Impaired continence	2	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0025142	HP:0002027	Abdominal pain	2	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0025142	HP:0100749	Chest pain	2	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		44
HP:0025142	HP:0032148	Episodic pain	2	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0025142	HP:0031064	Impaired continence	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0025142	HP:0100749	Chest pain	2	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent		9
HP:0025142	HP:0001645	Sudden cardiac death	2	DPP6 CL E G H	1804	3010	OMIM:612956	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2			18
HP:0025142	HP:0031061	Impaired toileting ability	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0025142	HP:0001645	Sudden cardiac death	2	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11	.		268
HP:0025142	HP:0002829	Arthralgia	2	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.		13
HP:0025142	HP:0003326	Myalgia	2	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.		13
HP:0025142	HP:0001645	Sudden cardiac death	2	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10	.		358
HP:0025142	HP:0100749	Chest pain	2	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10			358
HP:0025142	HP:0001645	Sudden cardiac death	2	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8	.		747
HP:0025142	HP:0031064	Impaired continence	2	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0025142	HP:0001645	Sudden cardiac death	2	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1	.		163
HP:0025142	HP:0003326	Myalgia	2	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0025142	HP:0003326	Myalgia	2	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040283 - Occasional		600
HP:0025142	HP:0002027	Abdominal pain	2	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		13
HP:0025142	HP:0002027	Abdominal pain	2	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		67
HP:0025142	HP:0002027	Abdominal pain	2	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent		67
HP:0025142	HP:0002027	Abdominal pain	2	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		55
HP:0025142	HP:0002027	Abdominal pain	2	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent		55
HP:0025142	HP:0002653	Bone pain	2	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		2
HP:0025142	HP:0031064	Impaired continence	2	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0025142	HP:0012432	Chronic fatigue	2	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2			40
HP:0025142	HP:0001645	Sudden cardiac death	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025142	HP:0002829	Arthralgia	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0025142	HP:0002027	Abdominal pain	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent		79
HP:0025142	HP:0002027	Abdominal pain	2	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional		79
HP:0025142	HP:0002653	Bone pain	2	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040281 - Very frequent		79
HP:0025142	HP:0002027	Abdominal pain	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0025142	HP:0100749	Chest pain	2	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		172
HP:0025142	HP:0001645	Sudden cardiac death	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0025142	HP:0002027	Abdominal pain	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0025142	HP:0002829	Arthralgia	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0025142	HP:0001645	Sudden cardiac death	2	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.		107
HP:0025142	HP:0001645	Sudden cardiac death	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		107
HP:0025142	HP:0003418	Back pain	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		107
HP:0025142	HP:0002027	Abdominal pain	2	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		4
HP:0025142	HP:0100749	Chest pain	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0025142	HP:0003326	Myalgia	2	ENO3 CL E G H	2027	3354	OMIM:612932	Glycogen storage disease XIII	.		34
HP:0025142	HP:0002653	Bone pain	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		151
HP:0025142	HP:0002829	Arthralgia	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0025142	HP:0001645	Sudden cardiac death	2	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		151
HP:0025142	HP:0002027	Abdominal pain	2	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0025142	HP:0100749	Chest pain	2	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		112
HP:0025142	HP:0032148	Episodic pain	2	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0025142	HP:0002027	Abdominal pain	2	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		6
HP:0025142	HP:0002027	Abdominal pain	2	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		51
HP:0025142	HP:0003326	Myalgia	2	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		51
HP:0025142	HP:0002027	Abdominal pain	2	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		170
HP:0025142	HP:0002027	Abdominal pain	2	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040282 - Frequent		43
HP:0025142	HP:0002829	Arthralgia	2	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040282 - Frequent		43
HP:0025142	HP:0002027	Abdominal pain	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0025142	HP:0002829	Arthralgia	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0025142	HP:0003326	Myalgia	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0025142	HP:0002027	Abdominal pain	2	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		77
HP:0025142	HP:0002027	Abdominal pain	2	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		12
HP:0025142	HP:0002027	Abdominal pain	2	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0025142	HP:0032148	Episodic pain	2	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0025142	HP:0002829	Arthralgia	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		106
HP:0025142	HP:0002829	Arthralgia	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		54
HP:0025142	HP:0002829	Arthralgia	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		158
HP:0025142	HP:0002829	Arthralgia	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		83
HP:0025142	HP:0009763	Limb pain	2	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62			2
HP:0025142	HP:0002027	Abdominal pain	2	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0025142	HP:0032148	Episodic pain	2	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0025142	HP:0002027	Abdominal pain	2	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040281 - Very frequent
HP:0025142	HP:0100749	Chest pain	2	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare		96
HP:0025142	HP:0003326	Myalgia	2	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		96
HP:0025142	HP:0032510	Tendon pain	2	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		96
HP:0025142	HP:0002653	Bone pain	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		96
HP:0025142	HP:0100749	Chest pain	2	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare		102
HP:0025142	HP:0003326	Myalgia	2	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		102
HP:0025142	HP:0032510	Tendon pain	2	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		102
HP:0025142	HP:0001645	Sudden cardiac death	2	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J			111
HP:0025142	HP:0002027	Abdominal pain	2	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0025142	HP:0032148	Episodic pain	2	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0025142	HP:0002027	Abdominal pain	2	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		159
HP:0025142	HP:0002829	Arthralgia	2	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040282 - Frequent		303
HP:0025142	HP:0002829	Arthralgia	2	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040283 - Occasional		303
HP:0025142	HP:0031064	Impaired continence	2	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0025142	HP:0031064	Impaired continence	2	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0025142	HP:0002027	Abdominal pain	2	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		15
HP:0025142	HP:0003418	Back pain	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0025142	HP:0009763	Limb pain	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0025142	HP:0031064	Impaired continence	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0025142	HP:0031064	Impaired continence	2	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0025142	HP:0002027	Abdominal pain	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040282 - Frequent		59
HP:0025142	HP:0002829	Arthralgia	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040282 - Frequent		59
HP:0025142	HP:0003326	Myalgia	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		59
HP:0025142	HP:0100749	Chest pain	2	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		1361
HP:0025142	HP:0003326	Myalgia	2	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	.
HP:0025142	HP:0002027	Abdominal pain	2	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0025142	HP:0002653	Bone pain	2	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040282 - Frequent		51
HP:0025142	HP:0002653	Bone pain	2	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.		51
HP:0025142	HP:0002027	Abdominal pain	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0025142	HP:0100749	Chest pain	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		301
HP:0025142	HP:0032148	Episodic pain	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0025142	HP:0003418	Back pain	2	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy	.		68
HP:0025142	HP:0001645	Sudden cardiac death	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		68
HP:0025142	HP:0003418	Back pain	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		68
HP:0025142	HP:0001645	Sudden cardiac death	2	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0025142	HP:0002027	Abdominal pain	2	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		4
HP:0025142	HP:0002653	Bone pain	2	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		4
HP:0025142	HP:0031064	Impaired continence	2	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0025142	HP:0001645	Sudden cardiac death	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025142	HP:0002829	Arthralgia	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0025142	HP:0003326	Myalgia	2	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		157
HP:0025142	HP:0003326	Myalgia	2	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.		157
HP:0025142	HP:0003326	Myalgia	2	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.		157
HP:0025142	HP:0003326	Myalgia	2	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		184
HP:0025142	HP:0002027	Abdominal pain	2	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0025142	HP:0003418	Back pain	2	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional		8
HP:0025142	HP:0009763	Limb pain	2	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0025142	HP:0032148	Episodic pain	2	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0025142	HP:0001645	Sudden cardiac death	2	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26			197
HP:0025142	HP:0003326	Myalgia	2	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0025142	HP:0002027	Abdominal pain	2	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		11
HP:0025142	HP:0031064	Impaired continence	2	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0025142	HP:0012532	Chronic pain	2	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional		111
HP:0025142	HP:0031064	Impaired continence	2	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0025142	HP:0410020	Fish odor	2	FMO3 CL E G H	2328	3771	ORPHA:468726	Severe primary trimethylaminuria	HP:0040280 - Obligate		55
HP:0025142	HP:0003326	Myalgia	2	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0025142	HP:0031064	Impaired continence	2	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0025142	HP:0003326	Myalgia	2	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040283 - Occasional		30
HP:0025142	HP:0031064	Impaired continence	2	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome			30
HP:0025142	HP:0009763	Limb pain	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		9
HP:0025142	HP:0002653	Bone pain	2	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional		9
HP:0025142	HP:0100749	Chest pain	2	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		23
HP:0025142	HP:0002027	Abdominal pain	2	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		184
HP:0025142	HP:0031064	Impaired continence	2	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0025142	HP:0002027	Abdominal pain	2	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040281 - Very frequent		50
HP:0025142	HP:0002027	Abdominal pain	2	FSHR CL E G H	2492	3969	OMIM:608115	Ovarian hyperstimulation syndrome	.		50
HP:0025142	HP:0002829	Arthralgia	2	FTL CL E G H	2512	3999	ORPHA:254704	Genetic hyperferritinemia without iron overload	HP:0040283 - Occasional		33
HP:0025142	HP:0031064	Impaired continence	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0025142	HP:0002027	Abdominal pain	2	FUS CL E G H	2521	4010	ORPHA:99967	Myxoid/round cell liposarcoma	HP:0040283 - Occasional		105
HP:0025142	HP:0031064	Impaired continence	2	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence			3
HP:0025142	HP:0031064	Impaired continence	2	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0025142	HP:0002027	Abdominal pain	2	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.		101
HP:0025142	HP:0031064	Impaired continence	2	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0025142	HP:0031064	Impaired continence	2	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy			134
HP:0025142	HP:0031064	Impaired continence	2	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy			57
HP:0025142	HP:0031064	Impaired continence	2	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy			139
HP:0025142	HP:0031064	Impaired continence	2	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0025142	HP:0031064	Impaired continence	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0025142	HP:0002027	Abdominal pain	2	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002653	Bone pain	2	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		86
HP:0025142	HP:0002027	Abdominal pain	2	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040282 - Frequent
HP:0025142	HP:0002653	Bone pain	2	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent
HP:0025142	HP:0002653	Bone pain	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040281 - Very frequent
HP:0025142	HP:0002653	Bone pain	2	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0025142	HP:0031064	Impaired continence	2	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0025142	HP:0031064	Impaired continence	2	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46			30
HP:0025142	HP:0031064	Impaired continence	2	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0025142	HP:0031064	Impaired continence	2	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease			86
HP:0025142	HP:0031064	Impaired continence	2	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form			86
HP:0025142	HP:0002027	Abdominal pain	2	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia	HP:0040282 - Frequent		1
HP:0025142	HP:0002027	Abdominal pain	2	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0025142	HP:0002027	Abdominal pain	2	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		59
HP:0025142	HP:0002027	Abdominal pain	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent		56
HP:0025142	HP:0002027	Abdominal pain	2	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency	HP:0040281 - Very frequent		37
HP:0025142	HP:0009763	Limb pain	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0025142	HP:0009763	Limb pain	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0025142	HP:0031064	Impaired continence	2	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive			37
HP:0025142	HP:0002027	Abdominal pain	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent		291
HP:0025142	HP:0002027	Abdominal pain	2	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.		291
HP:0025142	HP:0002829	Arthralgia	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent		291
HP:0025142	HP:0003326	Myalgia	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent		291
HP:0025142	HP:0002027	Abdominal pain	2	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent		16
HP:0025142	HP:0046506	Pain in head and neck region	2	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma			16
HP:0025142	HP:0001645	Sudden cardiac death	2	GNAI2 CL E G H	2771	4385	OMIM:192605	Ventricular tachycardia, familial	.		4
HP:0025142	HP:0046506	Pain in head and neck region	2	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma			7
HP:0025142	HP:0002653	Bone pain	2	GNAS CL E G H	2778	4392	ORPHA:57782	Mazabraud syndrome	HP:0040283 - Occasional		101
HP:0025142	HP:0002653	Bone pain	2	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional		101
HP:0025142	HP:0002653	Bone pain	2	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia	HP:0040281 - Very frequent		101
HP:0025142	HP:0100749	Chest pain	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional		101
HP:0025142	HP:0100749	Chest pain	2	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		101
HP:0025142	HP:0100749	Chest pain	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional		101
HP:0025142	HP:0002829	Arthralgia	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0025142	HP:0002027	Abdominal pain	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0025142	HP:0032148	Episodic pain	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0025142	HP:0002829	Arthralgia	2	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.		57
HP:0025142	HP:0003326	Myalgia	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		8
HP:0025142	HP:0031064	Impaired continence	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0025142	HP:0002027	Abdominal pain	2	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		73
HP:0025142	HP:0001645	Sudden cardiac death	2	GPD1L CL E G H	23171	28956	OMIM:611777	BRUGADA SYNDROME 2; BRGDA2			97
HP:0025142	HP:0002829	Arthralgia	2	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent		5
HP:0025142	HP:0002829	Arthralgia	2	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0025142	HP:0002027	Abdominal pain	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		2
HP:0025142	HP:0046506	Pain in head and neck region	2	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0025142	HP:0001645	Sudden cardiac death	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0025142	HP:0002027	Abdominal pain	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0025142	HP:0002829	Arthralgia	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0025142	HP:0001645	Sudden cardiac death	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0025142	HP:0002027	Abdominal pain	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0025142	HP:0002829	Arthralgia	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0025142	HP:0001645	Sudden cardiac death	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0025142	HP:0002027	Abdominal pain	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0025142	HP:0002829	Arthralgia	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0025142	HP:0002027	Abdominal pain	2	GUCY2C CL E G H	2984	4688	OMIM:614616	Diarrhea 6	HP:0040283 - Occasional		12
HP:0025142	HP:0033258	Sudden unexpected death in epilepsy	2	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0025142	HP:0002027	Abdominal pain	2	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		5
HP:0025142	HP:0002027	Abdominal pain	2	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		4
HP:0025142	HP:0002653	Bone pain	2	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional		58
HP:0025142	HP:0031064	Impaired continence	2	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0025142	HP:0003326	Myalgia	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		99
HP:0025142	HP:0003326	Myalgia	2	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0025142	HP:0025145	Rigors	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040284 - Very rare		99
HP:0025142	HP:0003326	Myalgia	2	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0025142	HP:0003326	Myalgia	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		60
HP:0025142	HP:0025145	Rigors	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040284 - Very rare		60
HP:0025142	HP:0002829	Arthralgia	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional		580
HP:0025142	HP:0002829	Arthralgia	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0025142	HP:0002027	Abdominal pain	2	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0025142	HP:0002027	Abdominal pain	2	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0025142	HP:0002829	Arthralgia	2	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0025142	HP:0002027	Abdominal pain	2	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.		580
HP:0025142	HP:0100749	Chest pain	2	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040282 - Frequent		580
HP:0025142	HP:0002027	Abdominal pain	2	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0025142	HP:0002829	Arthralgia	2	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0025142	HP:0002027	Abdominal pain	2	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0025142	HP:0002829	Arthralgia	2	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0025142	HP:0410019	Epigastric pain	2	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0025142	HP:0003418	Back pain	2	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0025142	HP:0030834	Shoulder pain	2	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0025142	HP:0009763	Limb pain	2	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0025142	HP:0002027	Abdominal pain	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0025142	HP:0031064	Impaired continence	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0025142	HP:0032148	Episodic pain	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0025142	HP:0031064	Impaired continence	2	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0025142	HP:0100749	Chest pain	2	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent
HP:0025142	HP:0002027	Abdominal pain	2	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.		38
HP:0025142	HP:0002027	Abdominal pain	2	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata	.		38
HP:0025142	HP:0002027	Abdominal pain	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent		38
HP:0025142	HP:0002829	Arthralgia	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional		38
HP:0025142	HP:0033666	Diminished physical functioning	2	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria			77
HP:0025142	HP:0002829	Arthralgia	2	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040281 - Very frequent		77
HP:0025142	HP:0002829	Arthralgia	2	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria	.		77
HP:0025142	HP:0003418	Back pain	2	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria			77
HP:0025142	HP:0003326	Myalgia	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		3
HP:0025142	HP:0031064	Impaired continence	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0025142	HP:0002027	Abdominal pain	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040282 - Frequent		4
HP:0025142	HP:0002829	Arthralgia	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040282 - Frequent		4
HP:0025142	HP:0003326	Myalgia	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		4
HP:0025142	HP:0001645	Sudden cardiac death	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0025142	HP:0002027	Abdominal pain	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0025142	HP:0002829	Arthralgia	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0025142	HP:0003326	Myalgia	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0025142	HP:0002027	Abdominal pain	2	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040282 - Frequent		4
HP:0025142	HP:0002829	Arthralgia	2	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040281 - Very frequent		4
HP:0025142	HP:0003418	Back pain	2	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1	.		4
HP:0025142	HP:0001645	Sudden cardiac death	2	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		4
HP:0025142	HP:0002027	Abdominal pain	2	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		4
HP:0025142	HP:0100749	Chest pain	2	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		4
HP:0025142	HP:0002829	Arthralgia	2	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional		4
HP:0025142	HP:0003326	Myalgia	2	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		4
HP:0025142	HP:0002027	Abdominal pain	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0025142	HP:0100749	Chest pain	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0025142	HP:0002829	Arthralgia	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0025142	HP:0003326	Myalgia	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		1
HP:0025142	HP:0100749	Chest pain	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		1
HP:0025142	HP:0002829	Arthralgia	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		1
HP:0025142	HP:0003326	Myalgia	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		1
HP:0025142	HP:0002027	Abdominal pain	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0025142	HP:0002829	Arthralgia	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0025142	HP:0100749	Chest pain	2	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent
HP:0025142	HP:0002027	Abdominal pain	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0025142	HP:0002829	Arthralgia	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0025142	HP:0100749	Chest pain	2	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent
HP:0025142	HP:0031064	Impaired continence	2	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to
HP:0025142	HP:0100749	Chest pain	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040284 - Very rare		2
HP:0025142	HP:0002829	Arthralgia	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		2
HP:0025142	HP:0001645	Sudden cardiac death	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0025142	HP:0002027	Abdominal pain	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0025142	HP:0002829	Arthralgia	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0025142	HP:0003326	Myalgia	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0025142	HP:0031064	Impaired continence	2	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to			2
HP:0025142	HP:0100749	Chest pain	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		2
HP:0025142	HP:0100749	Chest pain	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0025142	HP:0002027	Abdominal pain	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0025142	HP:0002829	Arthralgia	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		2
HP:0025142	HP:0002027	Abdominal pain	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040281 - Very frequent		81
HP:0025142	HP:0003418	Back pain	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040282 - Frequent		81
HP:0025142	HP:0009763	Limb pain	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040282 - Frequent		81
HP:0025142	HP:0046506	Pain in head and neck region	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0025142	HP:0031064	Impaired continence	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0025142	HP:0002027	Abdominal pain	2	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.		81
HP:0025142	HP:0031064	Impaired continence	2	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent			81
HP:0025142	HP:0003326	Myalgia	2	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3			31
HP:0025142	HP:0030838	Hip pain	2	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		31
HP:0025142	HP:0030838	Hip pain	2	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		5
HP:0025142	HP:0003326	Myalgia	2	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0025142	HP:0002829	Arthralgia	2	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy	HP:0040282 - Frequent		55
HP:0025142	HP:0002829	Arthralgia	2	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.		55
HP:0025142	HP:0002653	Bone pain	2	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040281 - Very frequent		55
HP:0025142	HP:0002829	Arthralgia	2	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent		55
HP:0025142	HP:0002027	Abdominal pain	2	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.		121
HP:0025142	HP:0031064	Impaired continence	2	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome			9
HP:0025142	HP:0002027	Abdominal pain	2	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0025142	HP:0031064	Impaired continence	2	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0025142	HP:0031064	Impaired continence	2	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13			46
HP:0025142	HP:0031064	Impaired continence	2	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant			46
HP:0025142	HP:0003326	Myalgia	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0025142	HP:0003418	Back pain	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0025142	HP:0031064	Impaired continence	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0025142	HP:0003418	Back pain	2	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0025142	HP:0009763	Limb pain	2	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0025142	HP:0046506	Pain in head and neck region	2	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0025142	HP:0009763	Limb pain	2	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0025142	HP:0030838	Hip pain	2	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0025142	HP:0002829	Arthralgia	2	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		32
HP:0025142	HP:0002653	Bone pain	2	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040282 - Frequent		15
HP:0025142	HP:0002653	Bone pain	2	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040282 - Frequent		15
HP:0025142	HP:0002653	Bone pain	2	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040282 - Frequent		29
HP:0025142	HP:0002653	Bone pain	2	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040282 - Frequent		29
HP:0025142	HP:0009763	Limb pain	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0025142	HP:0002027	Abdominal pain	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040282 - Frequent		60
HP:0025142	HP:0002829	Arthralgia	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040282 - Frequent		60
HP:0025142	HP:0003326	Myalgia	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		60
HP:0025142	HP:0031064	Impaired continence	2	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0025142	HP:0002027	Abdominal pain	2	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		7
HP:0025142	HP:0002829	Arthralgia	2	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0025142	HP:0003326	Myalgia	2	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0025142	HP:0031064	Impaired continence	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0025142	HP:0002829	Arthralgia	2	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0025142	HP:0003326	Myalgia	2	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0025142	HP:0001645	Sudden cardiac death	2	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		8
HP:0025142	HP:0002027	Abdominal pain	2	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		8
HP:0025142	HP:0002027	Abdominal pain	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040282 - Frequent		2
HP:0025142	HP:0002829	Arthralgia	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040282 - Frequent		2
HP:0025142	HP:0003326	Myalgia	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		2
HP:0025142	HP:0002829	Arthralgia	2	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0025142	HP:0002027	Abdominal pain	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0025142	HP:0002829	Arthralgia	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0025142	HP:0003326	Myalgia	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0025142	HP:0002027	Abdominal pain	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0025142	HP:0002829	Arthralgia	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0025142	HP:0003326	Myalgia	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0025142	HP:0100749	Chest pain	2	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		31
HP:0025142	HP:0002829	Arthralgia	2	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional		31
HP:0025142	HP:0003326	Myalgia	2	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		31
HP:0025142	HP:0002829	Arthralgia	2	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0025142	HP:0002027	Abdominal pain	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0025142	HP:0002829	Arthralgia	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0025142	HP:0003326	Myalgia	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0025142	HP:0002829	Arthralgia	2	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		65
HP:0025142	HP:0003326	Myalgia	2	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		65
HP:0025142	HP:0002829	Arthralgia	2	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0025142	HP:0003326	Myalgia	2	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.		2
HP:0025142	HP:0002027	Abdominal pain	2	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0025142	HP:0002829	Arthralgia	2	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		2
HP:0025142	HP:0002027	Abdominal pain	2	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		135
HP:0025142	HP:0002027	Abdominal pain	2	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0025142	HP:0100749	Chest pain	2	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare
HP:0025142	HP:0002829	Arthralgia	2	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		4
HP:0025142	HP:0002653	Bone pain	2	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		4
HP:0025142	HP:0002829	Arthralgia	2	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		4
HP:0025142	HP:0002027	Abdominal pain	2	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent		1
HP:0025142	HP:0100749	Chest pain	2	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional		1
HP:0025142	HP:0002829	Arthralgia	2	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent		1
HP:0025142	HP:0003326	Myalgia	2	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040282 - Frequent		1
HP:0025142	HP:0002829	Arthralgia	2	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		4
HP:0025142	HP:0031064	Impaired continence	2	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy			2
HP:0025142	HP:0012432	Chronic fatigue	2	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025142	HP:0002027	Abdominal pain	2	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		57
HP:0025142	HP:0100749	Chest pain	2	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		57
HP:0025142	HP:0100749	Chest pain	2	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent		57
HP:0025142	HP:0002027	Abdominal pain	2	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		57
HP:0025142	HP:0002829	Arthralgia	2	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent		57
HP:0025142	HP:0030157	Flank pain	2	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		57
HP:0025142	HP:0003326	Myalgia	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		2
HP:0025142	HP:0031064	Impaired continence	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0025142	HP:0031064	Impaired continence	2	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0025142	HP:0001645	Sudden cardiac death	2	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0025142	HP:0001645	Sudden cardiac death	2	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040283 - Occasional		222
HP:0025142	HP:0031064	Impaired continence	2	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0025142	HP:0031064	Impaired continence	2	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22			35
HP:0025142	HP:0030973	Postexertional symptom exacerbation	2	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040282 - Frequent		148
HP:0025142	HP:0001645	Sudden cardiac death	2	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2	.		148
HP:0025142	HP:0001645	Sudden cardiac death	2	KCNE1 CL E G H	3753	6240	OMIM:613695	Long QT syndrome 5	.		148
HP:0025142	HP:0001645	Sudden cardiac death	2	KCNE1 CL E G H	3753	6240	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		148
HP:0025142	HP:0001645	Sudden cardiac death	2	KCNE2 CL E G H	9992	6242	OMIM:613693	Long QT syndrome 6	.		43
HP:0025142	HP:0001645	Sudden cardiac death	2	KCNE2 CL E G H	9992	6242	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		43
HP:0025142	HP:0001645	Sudden cardiac death	2	KCNH2 CL E G H	3757	6251	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional		901
HP:0025142	HP:0001645	Sudden cardiac death	2	KCNH2 CL E G H	3757	6251	OMIM:613688	Long QT syndrome 2	.		901
HP:0025142	HP:0001645	Sudden cardiac death	2	KCNH2 CL E G H	3757	6251	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		901
HP:0025142	HP:0001645	Sudden cardiac death	2	KCNH2 CL E G H	3757	6251	OMIM:609620	SHORT QT SYNDROME 1; SQT1			901
HP:0025142	HP:0001645	Sudden cardiac death	2	KCNJ2 CL E G H	3759	6263	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional		193
HP:0025142	HP:0001645	Sudden cardiac death	2	KCNJ5 CL E G H	3762	6266	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		128
HP:0025142	HP:0002027	Abdominal pain	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		3
HP:0025142	HP:0012431	Episodic fatigue	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		3
HP:0025142	HP:0001645	Sudden cardiac death	2	KCNQ1 CL E G H	3784	6294	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional		730
HP:0025142	HP:0030973	Postexertional symptom exacerbation	2	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040282 - Frequent		730
HP:0025142	HP:0001645	Sudden cardiac death	2	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1	.		730
HP:0025142	HP:0001645	Sudden cardiac death	2	KCNQ1 CL E G H	3784	6294	OMIM:192500	LONG QT SYNDROME 1; LQT1			730
HP:0025142	HP:0001645	Sudden cardiac death	2	KCNQ1 CL E G H	3784	6294	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		730
HP:0025142	HP:0001645	Sudden cardiac death	2	KCNQ1 CL E G H	3784	6294	OMIM:609621	Short QT syndrome 2			730
HP:0025142	HP:0031064	Impaired continence	2	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			321
HP:0025142	HP:0002027	Abdominal pain	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0025142	HP:0100749	Chest pain	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		202
HP:0025142	HP:0032148	Episodic pain	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0025142	HP:0002027	Abdominal pain	2	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.		202
HP:0025142	HP:0002653	Bone pain	2	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.		202
HP:0025142	HP:0031064	Impaired continence	2	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant			93
HP:0025142	HP:0002829	Arthralgia	2	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040282 - Frequent		167
HP:0025142	HP:0002027	Abdominal pain	2	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma	HP:0040283 - Occasional		327
HP:0025142	HP:0002027	Abdominal pain	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		327
HP:0025142	HP:0002653	Bone pain	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		327
HP:0025142	HP:0002829	Arthralgia	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		327
HP:0025142	HP:0003326	Myalgia	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		327
HP:0025142	HP:0002027	Abdominal pain	2	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0025142	HP:0002829	Arthralgia	2	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0025142	HP:0002027	Abdominal pain	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0025142	HP:0002829	Arthralgia	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0025142	HP:0003326	Myalgia	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0025142	HP:0031064	Impaired continence	2	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0025142	HP:0002027	Abdominal pain	2	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		196
HP:0025142	HP:0003418	Back pain	2	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		196
HP:0025142	HP:0012432	Chronic fatigue	2	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		196
HP:0025142	HP:0002027	Abdominal pain	2	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		196
HP:0025142	HP:0009763	Limb pain	2	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0025142	HP:0009763	Limb pain	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0025142	HP:0046506	Pain in head and neck region	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0025142	HP:0009763	Limb pain	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0025142	HP:0046506	Pain in head and neck region	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0025142	HP:0009763	Limb pain	2	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0025142	HP:0009763	Limb pain	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0025142	HP:0046506	Pain in head and neck region	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0025142	HP:0009763	Limb pain	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0025142	HP:0046506	Pain in head and neck region	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0025142	HP:0003326	Myalgia	2	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0025142	HP:0031064	Impaired continence	2	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0025142	HP:0002027	Abdominal pain	2	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		1
HP:0025142	HP:0002829	Arthralgia	2	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		1
HP:0025142	HP:0003326	Myalgia	2	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040281 - Very frequent		70
HP:0025142	HP:0001645	Sudden cardiac death	2	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction	HP:0040283 - Occasional		286
HP:0025142	HP:0003326	Myalgia	2	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency			35
HP:0025142	HP:0003326	Myalgia	2	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI	.		35
HP:0025142	HP:0001645	Sudden cardiac death	2	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		2157
HP:0025142	HP:0002829	Arthralgia	2	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		2157
HP:0025142	HP:0001645	Sudden cardiac death	2	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		73
HP:0025142	HP:0002829	Arthralgia	2	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		73
HP:0025142	HP:0001645	Sudden cardiac death	2	LEMD2 CL E G H	221496	21244	OMIM:212500	CATARACT 46, JUVENILE-ONSET; CTRCT46			1
HP:0025142	HP:0002653	Bone pain	2	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040281 - Very frequent		68
HP:0025142	HP:0002829	Arthralgia	2	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional		68
HP:0025142	HP:0003326	Myalgia	2	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional		68
HP:0025142	HP:0002653	Bone pain	2	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0025142	HP:0002829	Arthralgia	2	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0025142	HP:0009763	Limb pain	2	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0025142	HP:0030838	Hip pain	2	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0025142	HP:0032148	Episodic pain	2	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0025142	HP:0002027	Abdominal pain	2	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		1
HP:0025142	HP:0001645	Sudden cardiac death	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025142	HP:0002829	Arthralgia	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0025142	HP:0003326	Myalgia	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0025142	HP:0001645	Sudden cardiac death	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		645
HP:0025142	HP:0003418	Back pain	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0025142	HP:0001645	Sudden cardiac death	2	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0025142	HP:0003418	Back pain	2	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0025142	HP:0003326	Myalgia	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040283 - Occasional		645
HP:0025142	HP:0001645	Sudden cardiac death	2	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A			645
HP:0025142	HP:0001645	Sudden cardiac death	2	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.		645
HP:0025142	HP:0001645	Sudden cardiac death	2	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	HP:0040282 - Frequent		645
HP:0025142	HP:0003326	Myalgia	2	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional		645
HP:0025142	HP:0030838	Hip pain	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0025142	HP:0003326	Myalgia	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0025142	HP:0002829	Arthralgia	2	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional		645
HP:0025142	HP:0003326	Myalgia	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional		44
HP:0025142	HP:0031064	Impaired continence	2	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0025142	HP:0002829	Arthralgia	2	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040283 - Occasional		11
HP:0025142	HP:0003418	Back pain	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040282 - Frequent		165
HP:0025142	HP:0003418	Back pain	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0025142	HP:0009763	Limb pain	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0025142	HP:0100749	Chest pain	2	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		6
HP:0025142	HP:0003326	Myalgia	2	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0025142	HP:0003326	Myalgia	2	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent	.		95
HP:0025142	HP:0002653	Bone pain	2	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent		186
HP:0025142	HP:0002829	Arthralgia	2	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent		186
HP:0025142	HP:0003326	Myalgia	2	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040282 - Frequent		186
HP:0025142	HP:0002653	Bone pain	2	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0025142	HP:0002829	Arthralgia	2	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0025142	HP:0002027	Abdominal pain	2	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0025142	HP:0032148	Episodic pain	2	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0025142	HP:0031064	Impaired continence	2	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome			5
HP:0025142	HP:0002027	Abdominal pain	2	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		125
HP:0025142	HP:0003418	Back pain	2	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		125
HP:0025142	HP:0200025	Mandibular pain	2	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0025142	HP:0001645	Sudden cardiac death	2	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2	.		26
HP:0025142	HP:0002829	Arthralgia	2	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.		63
HP:0025142	HP:0009763	Limb pain	2	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0025142	HP:0002027	Abdominal pain	2	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		59
HP:0025142	HP:0002027	Abdominal pain	2	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		6
HP:0025142	HP:0031064	Impaired continence	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0025142	HP:0031064	Impaired continence	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0025142	HP:0100749	Chest pain	2	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		13
HP:0025142	HP:0002829	Arthralgia	2	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5	.		32
HP:0025142	HP:0030838	Hip pain	2	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0025142	HP:0003418	Back pain	2	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040284 - Very rare		32
HP:0025142	HP:0009763	Limb pain	2	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0025142	HP:0003326	Myalgia	2	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0025142	HP:0002027	Abdominal pain	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0025142	HP:0100749	Chest pain	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		84
HP:0025142	HP:0032148	Episodic pain	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0025142	HP:0002027	Abdominal pain	2	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0025142	HP:0012432	Chronic fatigue	2	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		94
HP:0025142	HP:0032148	Episodic pain	2	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0025142	HP:0002027	Abdominal pain	2	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE			5
HP:0025142	HP:0002027	Abdominal pain	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0025142	HP:0100749	Chest pain	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		4
HP:0025142	HP:0032148	Episodic pain	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0025142	HP:0003326	Myalgia	2	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0025142	HP:0012432	Chronic fatigue	2	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0025142	HP:0002027	Abdominal pain	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0025142	HP:0100749	Chest pain	2	MEF2A CL E G H	4205	6993	OMIM:608320	Coronary artery disease, autosomal dominant, 1	.		5
HP:0025142	HP:0002027	Abdominal pain	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040282 - Frequent		281
HP:0025142	HP:0002829	Arthralgia	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040282 - Frequent		281
HP:0025142	HP:0003326	Myalgia	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		281
HP:0025142	HP:0002027	Abdominal pain	2	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040281 - Very frequent		281
HP:0025142	HP:0100749	Chest pain	2	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040282 - Frequent		281
HP:0025142	HP:0002829	Arthralgia	2	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040281 - Very frequent		281
HP:0025142	HP:0003326	Myalgia	2	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040281 - Very frequent		281
HP:0025142	HP:0002027	Abdominal pain	2	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0025142	HP:0100749	Chest pain	2	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0025142	HP:0002829	Arthralgia	2	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0025142	HP:0003326	Myalgia	2	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0025142	HP:0032148	Episodic pain	2	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0025142	HP:0002027	Abdominal pain	2	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT			281
HP:0025142	HP:0100749	Chest pain	2	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT			281
HP:0025142	HP:0002829	Arthralgia	2	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT			281
HP:0025142	HP:0002829	Arthralgia	2	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis	HP:0040283 - Occasional		281
HP:0025142	HP:0002829	Arthralgia	2	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0025142	HP:0003326	Myalgia	2	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0025142	HP:0002829	Arthralgia	2	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040282 - Frequent		281
HP:0025142	HP:0003326	Myalgia	2	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040282 - Frequent		281
HP:0025142	HP:0002027	Abdominal pain	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		462
HP:0025142	HP:0003418	Back pain	2	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0025142	HP:0410019	Epigastric pain	2	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent		375
HP:0025142	HP:0002027	Abdominal pain	2	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent		375
HP:0025142	HP:0001645	Sudden cardiac death	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0025142	HP:0002027	Abdominal pain	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0025142	HP:0002829	Arthralgia	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0025142	HP:0100749	Chest pain	2	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		11
HP:0025142	HP:0009763	Limb pain	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0025142	HP:0002829	Arthralgia	2	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis	HP:0040281 - Very frequent		203
HP:0025142	HP:0003326	Myalgia	2	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0025142	HP:0002027	Abdominal pain	2	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		1
HP:0025142	HP:0002829	Arthralgia	2	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		1
HP:0025142	HP:0002653	Bone pain	2	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional		3
HP:0025142	HP:0002027	Abdominal pain	2	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent		91
HP:0025142	HP:0002027	Abdominal pain	2	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		1819
HP:0025142	HP:0002027	Abdominal pain	2	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		131
HP:0025142	HP:0003326	Myalgia	2	MLIP CL E G H	90523	21355	OMIM:620138
HP:0025142	HP:0100749	Chest pain	2	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0025142	HP:0002829	Arthralgia	2	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional
HP:0025142	HP:0003326	Myalgia	2	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0025142	HP:0001645	Sudden cardiac death	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0025142	HP:0002027	Abdominal pain	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0025142	HP:0002829	Arthralgia	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0025142	HP:0002027	Abdominal pain	2	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency	.		80
HP:0025142	HP:0009763	Limb pain	2	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0025142	HP:0012532	Chronic pain	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		6
HP:0025142	HP:0002829	Arthralgia	2	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0025142	HP:0002027	Abdominal pain	2	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040283 - Occasional
HP:0025142	HP:0031064	Impaired continence	2	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome			17
HP:0025142	HP:0003326	Myalgia	2	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II			4
HP:0025142	HP:0031064	Impaired continence	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0025142	HP:0031064	Impaired continence	2	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0025142	HP:0100749	Chest pain	2	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		97
HP:0025142	HP:0100749	Chest pain	2	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent		97
HP:0025142	HP:0002027	Abdominal pain	2	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		97
HP:0025142	HP:0002829	Arthralgia	2	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent		97
HP:0025142	HP:0030157	Flank pain	2	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		97
HP:0025142	HP:0002027	Abdominal pain	2	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0025142	HP:0012432	Chronic fatigue	2	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		26
HP:0025142	HP:0032148	Episodic pain	2	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0025142	HP:0003326	Myalgia	2	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0025142	HP:0002829	Arthralgia	2	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		1
HP:0025142	HP:0002027	Abdominal pain	2	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		2162
HP:0025142	HP:0002027	Abdominal pain	2	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		2232
HP:0025142	HP:0002829	Arthralgia	2	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	.		3
HP:0025142	HP:0002027	Abdominal pain	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		1
HP:0025142	HP:0003326	Myalgia	2	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0025142	HP:0003326	Myalgia	2	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0025142	HP:0003326	Myalgia	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0025142	HP:0031064	Impaired continence	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0025142	HP:0003326	Myalgia	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent		81
HP:0025142	HP:0002829	Arthralgia	2	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0025142	HP:0002829	Arthralgia	2	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0025142	HP:0003326	Myalgia	2	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0025142	HP:0002027	Abdominal pain	2	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040281 - Very frequent		150
HP:0025142	HP:0002829	Arthralgia	2	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040281 - Very frequent		150
HP:0025142	HP:0003326	Myalgia	2	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040281 - Very frequent		150
HP:0025142	HP:0002829	Arthralgia	2	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0025142	HP:0001645	Sudden cardiac death	2	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0025142	HP:0100749	Chest pain	2	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.		1143
HP:0025142	HP:0002027	Abdominal pain	2	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional		11
HP:0025142	HP:0003326	Myalgia	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0025142	HP:0031064	Impaired continence	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0025142	HP:0100749	Chest pain	2	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent		418
HP:0025142	HP:0100749	Chest pain	2	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		418
HP:0025142	HP:0002829	Arthralgia	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0025142	HP:0001645	Sudden cardiac death	2	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0025142	HP:0001645	Sudden cardiac death	2	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040283 - Occasional		1269
HP:0025142	HP:0100749	Chest pain	2	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040282 - Frequent		1269
HP:0025142	HP:0003326	Myalgia	2	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent		1269
HP:0025142	HP:0003326	Myalgia	2	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.		1269
HP:0025142	HP:0001645	Sudden cardiac death	2	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	HP:0040283 - Occasional		131
HP:0025142	HP:0100749	Chest pain	2	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	.		131
HP:0025142	HP:0001645	Sudden cardiac death	2	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8	.		95
HP:0025142	HP:0100749	Chest pain	2	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		326
HP:0025142	HP:0002027	Abdominal pain	2	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		3
HP:0025142	HP:0031064	Impaired continence	2	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0025142	HP:0003326	Myalgia	2	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.		75
HP:0025142	HP:0001645	Sudden cardiac death	2	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16			81
HP:0025142	HP:0003418	Back pain	2	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0025142	HP:0002027	Abdominal pain	2	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0025142	HP:0002653	Bone pain	2	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0025142	HP:0001645	Sudden cardiac death	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0025142	HP:0002027	Abdominal pain	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0025142	HP:0002829	Arthralgia	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0025142	HP:0002653	Bone pain	2	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		39
HP:0025142	HP:0031064	Impaired continence	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0025142	HP:0031064	Impaired continence	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0025142	HP:0002027	Abdominal pain	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0025142	HP:0100749	Chest pain	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		1952
HP:0025142	HP:0032148	Episodic pain	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0025142	HP:0033345	Neuralgia	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0025142	HP:0003418	Back pain	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare		220
HP:0025142	HP:0046506	Pain in head and neck region	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0025142	HP:0031064	Impaired continence	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0025142	HP:0002829	Arthralgia	2	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		7
HP:0025142	HP:0002829	Arthralgia	2	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		11
HP:0025142	HP:0002829	Arthralgia	2	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA			1
HP:0025142	HP:0031064	Impaired continence	2	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6			117
HP:0025142	HP:0031064	Impaired continence	2	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant			117
HP:0025142	HP:0002027	Abdominal pain	2	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent		90
HP:0025142	HP:0003418	Back pain	2	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0025142	HP:0002829	Arthralgia	2	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0025142	HP:0003326	Myalgia	2	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0025142	HP:0002829	Arthralgia	2	NLRC4 CL E G H	58484	16412	OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4			30
HP:0025142	HP:0033050	Pharyngalgia	2	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0025142	HP:0002027	Abdominal pain	2	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0025142	HP:0002829	Arthralgia	2	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0025142	HP:0003326	Myalgia	2	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0025142	HP:0009763	Limb pain	2	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0025142	HP:0002829	Arthralgia	2	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent		217
HP:0025142	HP:0003326	Myalgia	2	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent		217
HP:0025142	HP:0002829	Arthralgia	2	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation	.		217
HP:0025142	HP:0002829	Arthralgia	2	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0025142	HP:0003326	Myalgia	2	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0025142	HP:0002027	Abdominal pain	2	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040283 - Occasional		217
HP:0025142	HP:0002829	Arthralgia	2	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040283 - Occasional		217
HP:0025142	HP:0003326	Myalgia	2	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040281 - Very frequent		217
HP:0025142	HP:0002027	Abdominal pain	2	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040282 - Frequent		217
HP:0025142	HP:0002829	Arthralgia	2	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0025142	HP:0002829	Arthralgia	2	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040281 - Very frequent		217
HP:0025142	HP:0003326	Myalgia	2	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome	.		217
HP:0025142	HP:0003326	Myalgia	2	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional		217
HP:0025142	HP:0012432	Chronic fatigue	2	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0025142	HP:0002027	Abdominal pain	2	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0025142	HP:0012432	Chronic fatigue	2	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		13
HP:0025142	HP:0032148	Episodic pain	2	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0025142	HP:0002829	Arthralgia	2	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040281 - Very frequent		187
HP:0025142	HP:0002027	Abdominal pain	2	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.		187
HP:0025142	HP:0002027	Abdominal pain	2	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0025142	HP:0100749	Chest pain	2	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0025142	HP:0002829	Arthralgia	2	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0025142	HP:0003326	Myalgia	2	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0025142	HP:0031064	Impaired continence	2	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0025142	HP:0100749	Chest pain	2	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent		2
HP:0025142	HP:0001645	Sudden cardiac death	2	NOS1AP CL E G H	9722	16859	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		4
HP:0025142	HP:0002653	Bone pain	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent		138
HP:0025142	HP:0002829	Arthralgia	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent		138
HP:0025142	HP:0031064	Impaired continence	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0025142	HP:0031064	Impaired continence	2	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0025142	HP:0031064	Impaired continence	2	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy			144
HP:0025142	HP:0002027	Abdominal pain	2	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		241
HP:0025142	HP:0002027	Abdominal pain	2	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		69
HP:0025142	HP:0002027	Abdominal pain	2	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		12
HP:0025142	HP:0002653	Bone pain	2	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		12
HP:0025142	HP:0030973	Postexertional symptom exacerbation	2	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent		13
HP:0025142	HP:0002027	Abdominal pain	2	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		14
HP:0025142	HP:0002027	Abdominal pain	2	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		4
HP:0025142	HP:0003326	Myalgia	2	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional
HP:0025142	HP:0046506	Pain in head and neck region	2	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0025142	HP:0002027	Abdominal pain	2	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0025142	HP:0002653	Bone pain	2	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		5
HP:0025142	HP:0002027	Abdominal pain	2	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		1
HP:0025142	HP:0001645	Sudden cardiac death	2	NUP155 CL E G H	9631	8063	OMIM:615770	Atrial fibrillation, familial, 15			1
HP:0025142	HP:0002027	Abdominal pain	2	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		1
HP:0025142	HP:0002027	Abdominal pain	2	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		5
HP:0025142	HP:0003326	Myalgia	2	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		214
HP:0025142	HP:0002027	Abdominal pain	2	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency	.		5
HP:0025142	HP:0003326	Myalgia	2	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent		19
HP:0025142	HP:0002027	Abdominal pain	2	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0025142	HP:0002027	Abdominal pain	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0025142	HP:0002829	Arthralgia	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0025142	HP:0003326	Myalgia	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0025142	HP:0046506	Pain in head and neck region	2	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0025142	HP:0001645	Sudden cardiac death	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0025142	HP:0002027	Abdominal pain	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0025142	HP:0002829	Arthralgia	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0025142	HP:0003326	Myalgia	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0025142	HP:0002027	Abdominal pain	2	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		1349
HP:0025142	HP:0003418	Back pain	2	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		1349
HP:0025142	HP:0012432	Chronic fatigue	2	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		1349
HP:0025142	HP:0002027	Abdominal pain	2	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		192
HP:0025142	HP:0003418	Back pain	2	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		192
HP:0025142	HP:0012432	Chronic fatigue	2	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		192
HP:0025142	HP:0031064	Impaired continence	2	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1			55
HP:0025142	HP:0002027	Abdominal pain	2	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		39
HP:0025142	HP:0001645	Sudden cardiac death	2	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		178
HP:0025142	HP:0002829	Arthralgia	2	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		178
HP:0025142	HP:0031064	Impaired continence	2	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to			1
HP:0025142	HP:0031064	Impaired continence	2	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1			9
HP:0025142	HP:0033345	Neuralgia	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0025142	HP:0003418	Back pain	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare		9
HP:0025142	HP:0046506	Pain in head and neck region	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0025142	HP:0031064	Impaired continence	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0025142	HP:0003326	Myalgia	2	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.		337
HP:0025142	HP:0031064	Impaired continence	2	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1			28
HP:0025142	HP:0031064	Impaired continence	2	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0025142	HP:0003326	Myalgia	2	PGAM2 CL E G H	5224	8889	OMIM:261670	Phosphoglycerate mutase, muscle, deficiency of			26
HP:0025142	HP:0003326	Myalgia	2	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0025142	HP:0001645	Sudden cardiac death	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0025142	HP:0002653	Bone pain	2	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0025142	HP:0002829	Arthralgia	2	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0025142	HP:0002653	Bone pain	2	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0025142	HP:0002829	Arthralgia	2	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0025142	HP:0003326	Myalgia	2	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked			54
HP:0025142	HP:0003326	Myalgia	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		54
HP:0025142	HP:0003326	Myalgia	2	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0025142	HP:0003326	Myalgia	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		48
HP:0025142	HP:0002027	Abdominal pain	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		36
HP:0025142	HP:0012431	Episodic fatigue	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		36
HP:0025142	HP:0002027	Abdominal pain	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0025142	HP:0100749	Chest pain	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent		46
HP:0025142	HP:0032148	Episodic pain	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0025142	HP:0031061	Impaired toileting ability	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0025142	HP:0002027	Abdominal pain	2	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2	.		12
HP:0025142	HP:0002829	Arthralgia	2	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2	.		12
HP:0025142	HP:0002027	Abdominal pain	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0025142	HP:0002027	Abdominal pain	2	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		162
HP:0025142	HP:0033345	Neuralgia	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0025142	HP:0003418	Back pain	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare		162
HP:0025142	HP:0046506	Pain in head and neck region	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0025142	HP:0031064	Impaired continence	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0025142	HP:0002027	Abdominal pain	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0025142	HP:0002829	Arthralgia	2	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0025142	HP:0002027	Abdominal pain	2	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040282 - Frequent		563
HP:0025142	HP:0001645	Sudden cardiac death	2	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9	.		406
HP:0025142	HP:0002027	Abdominal pain	2	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		118
HP:0025142	HP:0002829	Arthralgia	2	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	.		21
HP:0025142	HP:0003418	Back pain	2	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		2
HP:0025142	HP:0100749	Chest pain	2	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18	.		57
HP:0025142	HP:0031064	Impaired continence	2	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2			60
HP:0025142	HP:0002027	Abdominal pain	2	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		3
HP:0025142	HP:0002653	Bone pain	2	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		3
HP:0025142	HP:0030834	Shoulder pain	2	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040283 - Occasional		79
HP:0025142	HP:0002027	Abdominal pain	2	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		56
HP:0025142	HP:0002027	Abdominal pain	2	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		1121
HP:0025142	HP:0003326	Myalgia	2	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	.		65
HP:0025142	HP:0003326	Myalgia	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent		65
HP:0025142	HP:0100749	Chest pain	2	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0025142	HP:0002027	Abdominal pain	2	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0025142	HP:0032148	Episodic pain	2	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0025142	HP:0002653	Bone pain	2	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature	HP:0040283 - Occasional		1129
HP:0025142	HP:0003326	Myalgia	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0025142	HP:0002027	Abdominal pain	2	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		464
HP:0025142	HP:0012533	Allodynia	2	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0025142	HP:0002027	Abdominal pain	2	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.		464
HP:0025142	HP:0002027	Abdominal pain	2	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		464
HP:0025142	HP:0003326	Myalgia	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0025142	HP:0003326	Myalgia	2	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.		45
HP:0025142	HP:0003326	Myalgia	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0025142	HP:0003418	Back pain	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0025142	HP:0002829	Arthralgia	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2	.		2
HP:0025142	HP:0003326	Myalgia	2	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		213
HP:0025142	HP:0002027	Abdominal pain	2	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional		213
HP:0025142	HP:0002027	Abdominal pain	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional		20
HP:0025142	HP:0002027	Abdominal pain	2	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		2
HP:0025142	HP:0001645	Sudden cardiac death	2	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile			8
HP:0025142	HP:0003326	Myalgia	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional		42
HP:0025142	HP:0002027	Abdominal pain	2	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040281 - Very frequent		41
HP:0025142	HP:0002027	Abdominal pain	2	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata	.		41
HP:0025142	HP:0100749	Chest pain	2	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040282 - Frequent		41
HP:0025142	HP:0003418	Back pain	2	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040282 - Frequent		41
HP:0025142	HP:0003326	Myalgia	2	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		58
HP:0025142	HP:0003326	Myalgia	2	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	HP:0040283 - Occasional		58
HP:0025142	HP:0031064	Impaired continence	2	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10			1
HP:0025142	HP:0100749	Chest pain	2	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6			235
HP:0025142	HP:0001645	Sudden cardiac death	2	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME			235
HP:0025142	HP:0002027	Abdominal pain	2	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		134
HP:0025142	HP:0002653	Bone pain	2	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		134
HP:0025142	HP:0002027	Abdominal pain	2	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		134
HP:0025142	HP:0100749	Chest pain	2	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040283 - Occasional		134
HP:0025142	HP:0002829	Arthralgia	2	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		10
HP:0025142	HP:0002027	Abdominal pain	2	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		63
HP:0025142	HP:0003418	Back pain	2	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		63
HP:0025142	HP:0003418	Back pain	2	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts	.		63
HP:0025142	HP:0100749	Chest pain	2	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		41
HP:0025142	HP:0009763	Limb pain	2	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16			37
HP:0025142	HP:0009763	Limb pain	2	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.		37
HP:0025142	HP:0040264	Jaw pain	2	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease	HP:0040281 - Very frequent		69
HP:0025142	HP:0033345	Neuralgia	2	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0025142	HP:0003326	Myalgia	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0025142	HP:0002027	Abdominal pain	2	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		51
HP:0025142	HP:0002027	Abdominal pain	2	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.		51
HP:0025142	HP:0002027	Abdominal pain	2	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		1
HP:0025142	HP:0002027	Abdominal pain	2	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.		1
HP:0025142	HP:0002027	Abdominal pain	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0025142	HP:0100749	Chest pain	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0025142	HP:0002829	Arthralgia	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0025142	HP:0003326	Myalgia	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0025142	HP:0002653	Bone pain	2	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0025142	HP:0012432	Chronic fatigue	2	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0025142	HP:0031064	Impaired continence	2	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency			81
HP:0025142	HP:0031064	Impaired continence	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0025142	HP:0031064	Impaired continence	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0025142	HP:0031064	Impaired continence	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0025142	HP:0002829	Arthralgia	2	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0025142	HP:0002653	Bone pain	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0025142	HP:0002829	Arthralgia	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0025142	HP:0002829	Arthralgia	2	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0025142	HP:0002829	Arthralgia	2	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	HP:0040282 - Frequent		96
HP:0025142	HP:0002027	Abdominal pain	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent		948
HP:0025142	HP:0001645	Sudden cardiac death	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		948
HP:0025142	HP:0002829	Arthralgia	2	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040281 - Very frequent		58
HP:0025142	HP:0002653	Bone pain	2	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040282 - Frequent		58
HP:0025142	HP:0002653	Bone pain	2	PTPN11 CL E G H	5781	9644	ORPHA:2499	Metachondromatosis	HP:0040281 - Very frequent		291
HP:0025142	HP:0002829	Arthralgia	2	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0025142	HP:0003326	Myalgia	2	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0025142	HP:0001645	Sudden cardiac death	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0025142	HP:0002027	Abdominal pain	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0025142	HP:0002829	Arthralgia	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0025142	HP:0003326	Myalgia	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0025142	HP:0002027	Abdominal pain	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		3
HP:0025142	HP:0100749	Chest pain	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		3
HP:0025142	HP:0002829	Arthralgia	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		3
HP:0025142	HP:0003326	Myalgia	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		3
HP:0025142	HP:0002829	Arthralgia	2	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0025142	HP:0002829	Arthralgia	2	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		3
HP:0025142	HP:0003326	Myalgia	2	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		3
HP:0025142	HP:0002027	Abdominal pain	2	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma	HP:0040283 - Occasional		1
HP:0025142	HP:0002027	Abdominal pain	2	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		2
HP:0025142	HP:0030973	Postexertional symptom exacerbation	2	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040283 - Occasional		71
HP:0025142	HP:0003326	Myalgia	2	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency			166
HP:0025142	HP:0030973	Postexertional symptom exacerbation	2	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040283 - Occasional		166
HP:0025142	HP:0003326	Myalgia	2	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V			166
HP:0025142	HP:0002027	Abdominal pain	2	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent
HP:0025142	HP:0003418	Back pain	2	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent
HP:0025142	HP:0012432	Chronic fatigue	2	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent
HP:0025142	HP:0002027	Abdominal pain	2	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome			25
HP:0025142	HP:0003326	Myalgia	2	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional		9
HP:0025142	HP:0002027	Abdominal pain	2	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		2
HP:0025142	HP:0002653	Bone pain	2	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		2
HP:0025142	HP:0100749	Chest pain	2	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional		88
HP:0025142	HP:0003418	Back pain	2	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional		88
HP:0025142	HP:0009763	Limb pain	2	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome			88
HP:0025142	HP:0046506	Pain in head and neck region	2	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome			88
HP:0025142	HP:0002027	Abdominal pain	2	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0025142	HP:0003326	Myalgia	2	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency	.		10
HP:0025142	HP:0001645	Sudden cardiac death	2	RBM20 CL E G H	282996	27424	OMIM:613172	Cardiomyopathy, dilated, 1dd	.		363
HP:0025142	HP:0002027	Abdominal pain	2	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		7
HP:0025142	HP:0002027	Abdominal pain	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0025142	HP:0100749	Chest pain	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		572
HP:0025142	HP:0032148	Episodic pain	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0025142	HP:0002027	Abdominal pain	2	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		572
HP:0025142	HP:0100749	Chest pain	2	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA			572
HP:0025142	HP:0002027	Abdominal pain	2	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0025142	HP:0100749	Chest pain	2	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		572
HP:0025142	HP:0032148	Episodic pain	2	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0025142	HP:0031064	Impaired continence	2	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB			54
HP:0025142	HP:0001645	Sudden cardiac death	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025142	HP:0002829	Arthralgia	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0025142	HP:0002027	Abdominal pain	2	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0025142	HP:0003326	Myalgia	2	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		3
HP:0025142	HP:0003326	Myalgia	2	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	HP:0040283 - Occasional		3
HP:0025142	HP:0002027	Abdominal pain	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional		7
HP:0025142	HP:0031064	Impaired continence	2	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0025142	HP:0100749	Chest pain	2	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040282 - Frequent		3
HP:0025142	HP:0002829	Arthralgia	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040282 - Frequent		15
HP:0025142	HP:0002027	Abdominal pain	2	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent		1
HP:0025142	HP:0003326	Myalgia	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0025142	HP:0031064	Impaired continence	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0025142	HP:0003326	Myalgia	2	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		125
HP:0025142	HP:0003326	Myalgia	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0025142	HP:0002027	Abdominal pain	2	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		125
HP:0025142	HP:0031064	Impaired continence	2	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70			2
HP:0025142	HP:0031064	Impaired continence	2	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12			25
HP:0025142	HP:0031064	Impaired continence	2	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant			25
HP:0025142	HP:0002027	Abdominal pain	2	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		181
HP:0025142	HP:0002653	Bone pain	2	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		181
HP:0025142	HP:0002829	Arthralgia	2	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		181
HP:0025142	HP:0003326	Myalgia	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0025142	HP:0031064	Impaired continence	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0025142	HP:0003326	Myalgia	2	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0025142	HP:0003326	Myalgia	2	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0025142	HP:0001645	Sudden cardiac death	2	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA			1103
HP:0025142	HP:0001645	Sudden cardiac death	2	RYR2 CL E G H	6262	10484	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040283 - Occasional		1103
HP:0025142	HP:0001645	Sudden cardiac death	2	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			1103
HP:0025142	HP:0002027	Abdominal pain	2	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040282 - Frequent		2
HP:0025142	HP:0031064	Impaired continence	2	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0025142	HP:0031064	Impaired continence	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0025142	HP:0031064	Impaired continence	2	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0025142	HP:0002027	Abdominal pain	2	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040282 - Frequent		77
HP:0025142	HP:0002653	Bone pain	2	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent		77
HP:0025142	HP:0001645	Sudden cardiac death	2	SCN10A CL E G H	6336	10582	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		146
HP:0025142	HP:0033258	Sudden unexpected death in epilepsy	2	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0025142	HP:0002027	Abdominal pain	2	SCN1B CL E G H	6324	10586	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent		126
HP:0025142	HP:0100749	Chest pain	2	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia	HP:0040282 - Frequent		263
HP:0025142	HP:0003326	Myalgia	2	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia	HP:0040281 - Very frequent		263
HP:0025142	HP:0100749	Chest pain	2	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional		263
HP:0025142	HP:0003326	Myalgia	2	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040282 - Frequent		263
HP:0025142	HP:0031064	Impaired continence	2	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis			263
HP:0025142	HP:0003326	Myalgia	2	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040283 - Occasional		263
HP:0025142	HP:0100749	Chest pain	2	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional		263
HP:0025142	HP:0003326	Myalgia	2	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional		263
HP:0025142	HP:0003326	Myalgia	2	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated	.		263
HP:0025142	HP:0003326	Myalgia	2	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent		263
HP:0025142	HP:0003326	Myalgia	2	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg	.		263
HP:0025142	HP:0001645	Sudden cardiac death	2	SCN4B CL E G H	6330	10592	OMIM:611819	Long QT syndrome 10			110
HP:0025142	HP:0001645	Sudden cardiac death	2	SCN4B CL E G H	6330	10592	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		110
HP:0025142	HP:0030973	Postexertional symptom exacerbation	2	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent		1134
HP:0025142	HP:0001645	Sudden cardiac death	2	SCN5A CL E G H	6331	10593	OMIM:601144	BRUGADA SYNDROME 1; BRGDA1			1134
HP:0025142	HP:0002027	Abdominal pain	2	SCN5A CL E G H	6331	10593	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent		1134
HP:0025142	HP:0001645	Sudden cardiac death	2	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3	.		1134
HP:0025142	HP:0001645	Sudden cardiac death	2	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA	.		1134
HP:0025142	HP:0001645	Sudden cardiac death	2	SCN5A CL E G H	6331	10593	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		1134
HP:0025142	HP:0033258	Sudden unexpected death in epilepsy	2	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13			357
HP:0025142	HP:0003326	Myalgia	2	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.		318
HP:0025142	HP:0040264	Jaw pain	2	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.		318
HP:0025142	HP:0032147	Erythromelalgia	2	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary			318
HP:0025142	HP:0031064	Impaired continence	2	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive			318
HP:0025142	HP:0200025	Mandibular pain	2	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder	.		318
HP:0025142	HP:0500005	Anal pain	2	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder	.		318
HP:0025142	HP:0046506	Pain in head and neck region	2	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder			318
HP:0025142	HP:0100749	Chest pain	2	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		67
HP:0025142	HP:0100749	Chest pain	2	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		61
HP:0025142	HP:0100749	Chest pain	2	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		57
HP:0025142	HP:0002027	Abdominal pain	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0025142	HP:0100749	Chest pain	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		304
HP:0025142	HP:0032148	Episodic pain	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0025142	HP:0003326	Myalgia	2	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0025142	HP:0002027	Abdominal pain	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0025142	HP:0100749	Chest pain	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		55
HP:0025142	HP:0032148	Episodic pain	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0025142	HP:0002027	Abdominal pain	2	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		237
HP:0025142	HP:0002027	Abdominal pain	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0025142	HP:0100749	Chest pain	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		237
HP:0025142	HP:0032148	Episodic pain	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0025142	HP:0002027	Abdominal pain	2	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0025142	HP:0100749	Chest pain	2	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		237
HP:0025142	HP:0032148	Episodic pain	2	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0025142	HP:0002027	Abdominal pain	2	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		147
HP:0025142	HP:0002027	Abdominal pain	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0025142	HP:0100749	Chest pain	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		147
HP:0025142	HP:0032148	Episodic pain	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0025142	HP:0002027	Abdominal pain	2	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome			129
HP:0025142	HP:0032148	Episodic pain	2	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome			129
HP:0025142	HP:0002027	Abdominal pain	2	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		129
HP:0025142	HP:0002027	Abdominal pain	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0025142	HP:0100749	Chest pain	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		129
HP:0025142	HP:0032148	Episodic pain	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0025142	HP:0002027	Abdominal pain	2	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0025142	HP:0100749	Chest pain	2	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		129
HP:0025142	HP:0032148	Episodic pain	2	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0025142	HP:0003326	Myalgia	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0025142	HP:0031064	Impaired continence	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0025142	HP:0002027	Abdominal pain	2	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		137
HP:0025142	HP:0003418	Back pain	2	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		137
HP:0025142	HP:0002027	Abdominal pain	2	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		1
HP:0025142	HP:0002027	Abdominal pain	2	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		2
HP:0025142	HP:0002027	Abdominal pain	2	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent		48
HP:0025142	HP:0002027	Abdominal pain	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0025142	HP:0002829	Arthralgia	2	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy	HP:0040281 - Very frequent
HP:0025142	HP:0002653	Bone pain	2	SERPINF2 CL E G H	5345	9075	ORPHA:79	Congenital alpha2-antiplasmin deficiency	HP:0040283 - Occasional		8
HP:0025142	HP:0002027	Abdominal pain	2	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1	.		64
HP:0025142	HP:0002027	Abdominal pain	2	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040281 - Very frequent		64
HP:0025142	HP:0046506	Pain in head and neck region	2	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma			19
HP:0025142	HP:0002829	Arthralgia	2	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease	.		3
HP:0025142	HP:0001645	Sudden cardiac death	2	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L			223
HP:0025142	HP:0100749	Chest pain	2	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		4
HP:0025142	HP:0033345	Neuralgia	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0025142	HP:0003326	Myalgia	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0025142	HP:0033258	Sudden unexpected death in epilepsy	2	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0025142	HP:0002027	Abdominal pain	2	SI CL E G H	6476	10856	ORPHA:35122	Congenital sucrase-isomaltase deficiency			98
HP:0025142	HP:0002027	Abdominal pain	2	SI CL E G H	6476	10856	OMIM:222900	Sucrase-isomaltase deficiency, congenital			98
HP:0025142	HP:0031064	Impaired continence	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0025142	HP:0002027	Abdominal pain	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040282 - Frequent		145
HP:0025142	HP:0002027	Abdominal pain	2	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0025142	HP:0002829	Arthralgia	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0025142	HP:0002829	Arthralgia	2	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0025142	HP:0003326	Myalgia	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0025142	HP:0031064	Impaired continence	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0025142	HP:0031064	Impaired continence	2	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0025142	HP:0031064	Impaired continence	2	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1			70
HP:0025142	HP:0003418	Back pain	2	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional		56
HP:0025142	HP:0030973	Postexertional symptom exacerbation	2	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040281 - Very frequent		56
HP:0025142	HP:0002829	Arthralgia	2	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0025142	HP:0002027	Abdominal pain	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0025142	HP:0100749	Chest pain	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0025142	HP:0032148	Episodic pain	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0025142	HP:0002027	Abdominal pain	2	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0025142	HP:0003326	Myalgia	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0025142	HP:0003326	Myalgia	2	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)	.		68
HP:0025142	HP:0002829	Arthralgia	2	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4	.		166
HP:0025142	HP:0002829	Arthralgia	2	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040281 - Very frequent		166
HP:0025142	HP:0031064	Impaired continence	2	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy			255
HP:0025142	HP:0003418	Back pain	2	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional		57
HP:0025142	HP:0030973	Postexertional symptom exacerbation	2	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040281 - Very frequent		57
HP:0025142	HP:0002653	Bone pain	2	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040282 - Frequent		47
HP:0025142	HP:0002653	Bone pain	2	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		47
HP:0025142	HP:0100749	Chest pain	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040282 - Frequent		7
HP:0025142	HP:0002653	Bone pain	2	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040282 - Frequent		52
HP:0025142	HP:0002653	Bone pain	2	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0025142	HP:0046506	Pain in head and neck region	2	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0025142	HP:0002027	Abdominal pain	2	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4	HP:0040282 - Frequent		56
HP:0025142	HP:0002829	Arthralgia	2	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4	HP:0040281 - Very frequent		56
HP:0025142	HP:0002829	Arthralgia	2	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0025142	HP:0031064	Impaired continence	2	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0025142	HP:0002027	Abdominal pain	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		109
HP:0025142	HP:0012431	Episodic fatigue	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		109
HP:0025142	HP:0002027	Abdominal pain	2	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		109
HP:0025142	HP:0003326	Myalgia	2	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		109
HP:0025142	HP:0046506	Pain in head and neck region	2	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0025142	HP:0001645	Sudden cardiac death	2	SLC4A3 CL E G H	6508	11029	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional		7
HP:0025142	HP:0031064	Impaired continence	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0025142	HP:0009763	Limb pain	2	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant			13
HP:0025142	HP:0009763	Limb pain	2	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2			13
HP:0025142	HP:0002653	Bone pain	2	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040281 - Very frequent		13
HP:0025142	HP:0002829	Arthralgia	2	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent		13
HP:0025142	HP:0100749	Chest pain	2	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		7
HP:0025142	HP:0002829	Arthralgia	2	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0025142	HP:0012432	Chronic fatigue	2	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0025142	HP:0012432	Chronic fatigue	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent		260
HP:0025142	HP:0100749	Chest pain	2	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		260
HP:0025142	HP:0012432	Chronic fatigue	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0025142	HP:0002027	Abdominal pain	2	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		504
HP:0025142	HP:0003418	Back pain	2	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		504
HP:0025142	HP:0012432	Chronic fatigue	2	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		504
HP:0025142	HP:0100749	Chest pain	2	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		504
HP:0025142	HP:0002027	Abdominal pain	2	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome			504
HP:0025142	HP:0033345	Neuralgia	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0025142	HP:0003418	Back pain	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare		87
HP:0025142	HP:0046506	Pain in head and neck region	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0025142	HP:0031064	Impaired continence	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0025142	HP:0033345	Neuralgia	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0025142	HP:0003418	Back pain	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare		47
HP:0025142	HP:0046506	Pain in head and neck region	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0025142	HP:0031064	Impaired continence	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0025142	HP:0002027	Abdominal pain	2	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		22
HP:0025142	HP:0033345	Neuralgia	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0025142	HP:0003418	Back pain	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare		22
HP:0025142	HP:0046506	Pain in head and neck region	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0025142	HP:0031064	Impaired continence	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0025142	HP:0002829	Arthralgia	2	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0025142	HP:0001645	Sudden cardiac death	2	SNTA1 CL E G H	6640	11167	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		118
HP:0025142	HP:0002653	Bone pain	2	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0025142	HP:0002829	Arthralgia	2	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0025142	HP:0002027	Abdominal pain	2	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040281 - Very frequent		61
HP:0025142	HP:0002027	Abdominal pain	2	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent		61
HP:0025142	HP:0003418	Back pain	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0025142	HP:0031064	Impaired continence	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0025142	HP:0031064	Impaired continence	2	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile			287
HP:0025142	HP:0031064	Impaired continence	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0025142	HP:0031064	Impaired continence	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0025142	HP:0031064	Impaired continence	2	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0025142	HP:0009763	Limb pain	2	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7			171
HP:0025142	HP:0002027	Abdominal pain	2	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		34
HP:0025142	HP:0002027	Abdominal pain	2	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.		34
HP:0025142	HP:0002027	Abdominal pain	2	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis	.		34
HP:0025142	HP:0410019	Epigastric pain	2	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0025142	HP:0002027	Abdominal pain	2	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0025142	HP:0100749	Chest pain	2	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare
HP:0025142	HP:0002829	Arthralgia	2	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		228
HP:0025142	HP:0002027	Abdominal pain	2	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		228
HP:0025142	HP:0003326	Myalgia	2	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		228
HP:0025142	HP:0002027	Abdominal pain	2	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		156
HP:0025142	HP:0002027	Abdominal pain	2	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		156
HP:0025142	HP:0003326	Myalgia	2	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		156
HP:0025142	HP:0002027	Abdominal pain	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0025142	HP:0003418	Back pain	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0025142	HP:0009763	Limb pain	2	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		54
HP:0025142	HP:0031060	Impaired ability to dress oneself	2	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent		54
HP:0025142	HP:0031064	Impaired continence	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0025142	HP:0009763	Limb pain	2	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		149
HP:0025142	HP:0031060	Impaired ability to dress oneself	2	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent		149
HP:0025142	HP:0031064	Impaired continence	2	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset			62
HP:0025142	HP:0002653	Bone pain	2	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3	.		62
HP:0025142	HP:0002027	Abdominal pain	2	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		1
HP:0025142	HP:0002027	Abdominal pain	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0025142	HP:0002027	Abdominal pain	2	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		1
HP:0025142	HP:0002653	Bone pain	2	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		1
HP:0025142	HP:0002829	Arthralgia	2	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		1
HP:0025142	HP:0002027	Abdominal pain	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		1
HP:0025142	HP:0002653	Bone pain	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		1
HP:0025142	HP:0002829	Arthralgia	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		1
HP:0025142	HP:0003326	Myalgia	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		1
HP:0025142	HP:0002027	Abdominal pain	2	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0025142	HP:0012432	Chronic fatigue	2	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		45
HP:0025142	HP:0032148	Episodic pain	2	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0025142	HP:0002027	Abdominal pain	2	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		110
HP:0025142	HP:0002653	Bone pain	2	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		110
HP:0025142	HP:0002027	Abdominal pain	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040282 - Frequent		2
HP:0025142	HP:0002829	Arthralgia	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040282 - Frequent		2
HP:0025142	HP:0003326	Myalgia	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		2
HP:0025142	HP:0002027	Abdominal pain	2	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional		2
HP:0025142	HP:0100749	Chest pain	2	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare		2
HP:0025142	HP:0002829	Arthralgia	2	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional		2
HP:0025142	HP:0002829	Arthralgia	2	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		2
HP:0025142	HP:0003326	Myalgia	2	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0025142	HP:0002027	Abdominal pain	2	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		12
HP:0025142	HP:0002653	Bone pain	2	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		12
HP:0025142	HP:0003418	Back pain	2	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0025142	HP:0003326	Myalgia	2	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0025142	HP:0003326	Myalgia	2	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.		31
HP:0025142	HP:0003326	Myalgia	2	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent		31
HP:0025142	HP:0002829	Arthralgia	2	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0025142	HP:0002027	Abdominal pain	2	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.		740
HP:0025142	HP:0002027	Abdominal pain	2	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional		740
HP:0025142	HP:0002027	Abdominal pain	2	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		2
HP:0025142	HP:0031064	Impaired continence	2	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0025142	HP:0100749	Chest pain	2	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		86
HP:0025142	HP:0001645	Sudden cardiac death	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025142	HP:0002829	Arthralgia	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0025142	HP:0033345	Neuralgia	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0025142	HP:0003418	Back pain	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare		124
HP:0025142	HP:0046506	Pain in head and neck region	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0025142	HP:0031064	Impaired continence	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0025142	HP:0003326	Myalgia	2	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0025142	HP:0030973	Postexertional symptom exacerbation	2	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0025142	HP:0002027	Abdominal pain	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0025142	HP:0001645	Sudden cardiac death	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		1129
HP:0025142	HP:0003418	Back pain	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		1129
HP:0025142	HP:0031064	Impaired continence	2	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0025142	HP:0001645	Sudden cardiac death	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		508
HP:0025142	HP:0003418	Back pain	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		508
HP:0025142	HP:0002027	Abdominal pain	2	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		1
HP:0025142	HP:0031064	Impaired continence	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0025142	HP:0031064	Impaired continence	2	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0025142	HP:0002027	Abdominal pain	2	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		22
HP:0025142	HP:0002653	Bone pain	2	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		22
HP:0025142	HP:0001645	Sudden cardiac death	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025142	HP:0002829	Arthralgia	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0025142	HP:0031064	Impaired continence	2	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0025142	HP:0003326	Myalgia	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		32
HP:0025142	HP:0031064	Impaired continence	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0025142	HP:0003418	Back pain	2	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2			5
HP:0025142	HP:0030157	Flank pain	2	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2	.		5
HP:0025142	HP:0001645	Sudden cardiac death	2	TBX5 CL E G H	6910	11604	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		123
HP:0025142	HP:0003418	Back pain	2	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5			19
HP:0025142	HP:0031064	Impaired continence	2	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0025142	HP:0046506	Pain in head and neck region	2	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0025142	HP:0002027	Abdominal pain	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		241
HP:0025142	HP:0002027	Abdominal pain	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent		82
HP:0025142	HP:0002653	Bone pain	2	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0025142	HP:0003418	Back pain	2	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		82
HP:0025142	HP:0001645	Sudden cardiac death	2	TECRL CL E G H	253017	27365	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040283 - Occasional		4
HP:0025142	HP:0002653	Bone pain	2	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus	HP:0040281 - Very frequent		78
HP:0025142	HP:0002027	Abdominal pain	2	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		238
HP:0025142	HP:0033345	Neuralgia	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0025142	HP:0003418	Back pain	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare		238
HP:0025142	HP:0046506	Pain in head and neck region	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0025142	HP:0031064	Impaired continence	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0025142	HP:0002027	Abdominal pain	2	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		3
HP:0025142	HP:0002653	Bone pain	2	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		3
HP:0025142	HP:0002829	Arthralgia	2	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		3
HP:0025142	HP:0100749	Chest pain	2	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		3
HP:0025142	HP:0002027	Abdominal pain	2	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		3
HP:0025142	HP:0002829	Arthralgia	2	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent		3
HP:0025142	HP:0030157	Flank pain	2	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		3
HP:0025142	HP:0002027	Abdominal pain	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		3
HP:0025142	HP:0002653	Bone pain	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		3
HP:0025142	HP:0002829	Arthralgia	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		3
HP:0025142	HP:0003326	Myalgia	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		3
HP:0025142	HP:0002653	Bone pain	2	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040281 - Very frequent		13
HP:0025142	HP:0009763	Limb pain	2	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0025142	HP:0100749	Chest pain	2	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		162
HP:0025142	HP:0012532	Chronic pain	2	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0025142	HP:0001645	Sudden cardiac death	2	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1	.		85
HP:0025142	HP:0100749	Chest pain	2	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		85
HP:0025142	HP:0046506	Pain in head and neck region	2	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I			58
HP:0025142	HP:0046506	Pain in head and neck region	2	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0025142	HP:0046506	Pain in head and neck region	2	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy			58
HP:0025142	HP:0032148	Episodic pain	2	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy	HP:0040282 - Frequent		58
HP:0025142	HP:0100749	Chest pain	2	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		239
HP:0025142	HP:0100749	Chest pain	2	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		253
HP:0025142	HP:0002027	Abdominal pain	2	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		253
HP:0025142	HP:0100749	Chest pain	2	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040282 - Frequent		253
HP:0025142	HP:0100749	Chest pain	2	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent		23
HP:0025142	HP:0031064	Impaired continence	2	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0025142	HP:0031064	Impaired continence	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0025142	HP:0003326	Myalgia	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional		103
HP:0025142	HP:0012432	Chronic fatigue	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent		103
HP:0025142	HP:0002027	Abdominal pain	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040282 - Frequent		3
HP:0025142	HP:0002829	Arthralgia	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040282 - Frequent		3
HP:0025142	HP:0003326	Myalgia	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		3
HP:0025142	HP:0002829	Arthralgia	2	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0025142	HP:0003326	Myalgia	2	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29	.		4
HP:0025142	HP:0002027	Abdominal pain	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0025142	HP:0100749	Chest pain	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		131
HP:0025142	HP:0032148	Episodic pain	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0025142	HP:0001645	Sudden cardiac death	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025142	HP:0002829	Arthralgia	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0025142	HP:0001645	Sudden cardiac death	2	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5			171
HP:0025142	HP:0100749	Chest pain	2	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5	.		171
HP:0025142	HP:0001645	Sudden cardiac death	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		171
HP:0025142	HP:0003418	Back pain	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		171
HP:0025142	HP:0002653	Bone pain	2	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis	.		72
HP:0025142	HP:0002653	Bone pain	2	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	.		72
HP:0025142	HP:0002829	Arthralgia	2	TNFRSF11B CL E G H	4982	11909	ORPHA:1416	Familial calcium pyrophosphate deposition	HP:0040281 - Very frequent		44
HP:0025142	HP:0002829	Arthralgia	2	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		32
HP:0025142	HP:0002829	Arthralgia	2	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		12
HP:0025142	HP:0002829	Arthralgia	2	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis	HP:0040283 - Occasional		131
HP:0025142	HP:0002027	Abdominal pain	2	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0025142	HP:0002653	Bone pain	2	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0025142	HP:0002829	Arthralgia	2	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0025142	HP:0003326	Myalgia	2	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0025142	HP:0002027	Abdominal pain	2	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040281 - Very frequent		131
HP:0025142	HP:0100749	Chest pain	2	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional		131
HP:0025142	HP:0002829	Arthralgia	2	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional		131
HP:0025142	HP:0003326	Myalgia	2	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040281 - Very frequent		131
HP:0025142	HP:0002653	Bone pain	2	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0025142	HP:0002829	Arthralgia	2	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		1
HP:0025142	HP:0001645	Sudden cardiac death	2	TNNC1 CL E G H	7134	11943	OMIM:611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z			73
HP:0025142	HP:0100749	Chest pain	2	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13	.		73
HP:0025142	HP:0001645	Sudden cardiac death	2	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1			180
HP:0025142	HP:0001645	Sudden cardiac death	2	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D			248
HP:0025142	HP:0002829	Arthralgia	2	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040282 - Frequent		134
HP:0025142	HP:0003326	Myalgia	2	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040282 - Frequent		134
HP:0025142	HP:0002829	Arthralgia	2	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.		134
HP:0025142	HP:0009763	Limb pain	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0025142	HP:0046506	Pain in head and neck region	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0025142	HP:0030834	Shoulder pain	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		911
HP:0025142	HP:0100749	Chest pain	2	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		911
HP:0025142	HP:0002027	Abdominal pain	2	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		911
HP:0025142	HP:0003418	Back pain	2	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		911
HP:0025142	HP:0012432	Chronic fatigue	2	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		911
HP:0025142	HP:0031064	Impaired continence	2	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy			140
HP:0025142	HP:0001645	Sudden cardiac death	2	TPM1 CL E G H	7168	12010	OMIM:115196	Cardiomyopathy, familial hypertrophic, 3			230
HP:0025142	HP:0033345	Neuralgia	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0025142	HP:0003418	Back pain	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0025142	HP:0046506	Pain in head and neck region	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0025142	HP:0031064	Impaired continence	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0025142	HP:0003326	Myalgia	2	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040282 - Frequent		27
HP:0025142	HP:0003326	Myalgia	2	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.		27
HP:0025142	HP:0003326	Myalgia	2	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent		27
HP:0025142	HP:0002829	Arthralgia	2	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent		46
HP:0025142	HP:0003418	Back pain	2	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent		46
HP:0025142	HP:0009763	Limb pain	2	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional		46
HP:0025142	HP:0002829	Arthralgia	2	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.		46
HP:0025142	HP:0001645	Sudden cardiac death	2	TRDN CL E G H	10345	12261	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040283 - Occasional		145
HP:0025142	HP:0001645	Sudden cardiac death	2	TRDN CL E G H	10345	12261	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional		145
HP:0025142	HP:0001645	Sudden cardiac death	2	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			145
HP:0025142	HP:0002027	Abdominal pain	2	TREH CL E G H	11181	12266	OMIM:612119	Trehalase deficiency	.		2
HP:0025142	HP:0002027	Abdominal pain	2	TREH CL E G H	11181	12266	ORPHA:103909	Trehalase deficiency			2
HP:0025142	HP:0002653	Bone pain	2	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		31
HP:0025142	HP:0002829	Arthralgia	2	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		31
HP:0025142	HP:0002829	Arthralgia	2	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0025142	HP:0002829	Arthralgia	2	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1	.		56
HP:0025142	HP:0009763	Limb pain	2	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.		56
HP:0025142	HP:0002027	Abdominal pain	2	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		2
HP:0025142	HP:0003326	Myalgia	2	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H			108
HP:0025142	HP:0031064	Impaired continence	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0025142	HP:0002027	Abdominal pain	2	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		2
HP:0025142	HP:0003326	Myalgia	2	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0025142	HP:0003326	Myalgia	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040283 - Occasional
HP:0025142	HP:0003326	Myalgia	2	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0025142	HP:0100749	Chest pain	2	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040283 - Occasional
HP:0025142	HP:0003326	Myalgia	2	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040283 - Occasional
HP:0025142	HP:0009763	Limb pain	2	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0025142	HP:0003326	Myalgia	2	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0025142	HP:0002027	Abdominal pain	2	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		107
HP:0025142	HP:0002027	Abdominal pain	2	TRPM4 CL E G H	54795	17993	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent		124
HP:0025142	HP:0002653	Bone pain	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		171
HP:0025142	HP:0002829	Arthralgia	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	HP:0003584 - Late onset	171
HP:0025142	HP:0030838	Hip pain	2	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent		214
HP:0025142	HP:0031520	Groin pain	2	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040281 - Very frequent		214
HP:0025142	HP:0031064	Impaired continence	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0025142	HP:0002027	Abdominal pain	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent		1090
HP:0025142	HP:0100749	Chest pain	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040281 - Very frequent		1090
HP:0025142	HP:0002027	Abdominal pain	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent		2738
HP:0025142	HP:0100749	Chest pain	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040281 - Very frequent		2738
HP:0025142	HP:0031064	Impaired continence	2	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0025142	HP:0003326	Myalgia	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0025142	HP:0003326	Myalgia	2	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.		113
HP:0025142	HP:0002027	Abdominal pain	2	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0025142	HP:0012432	Chronic fatigue	2	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		85
HP:0025142	HP:0032148	Episodic pain	2	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0025142	HP:0002027	Abdominal pain	2	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		138
HP:0025142	HP:0012533	Allodynia	2	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0025142	HP:0002027	Abdominal pain	2	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		138
HP:0025142	HP:0002653	Bone pain	2	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		22
HP:0025142	HP:0002829	Arthralgia	2	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		22
HP:0025142	HP:0031064	Impaired continence	2	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0025142	HP:0002829	Arthralgia	2	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0025142	HP:0002027	Abdominal pain	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0025142	HP:0002829	Arthralgia	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0025142	HP:0003326	Myalgia	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0025142	HP:0031064	Impaired continence	2	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0025142	HP:0033258	Sudden unexpected death in epilepsy	2	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0025142	HP:0003326	Myalgia	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0025142	HP:0031064	Impaired continence	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0025142	HP:0002829	Arthralgia	2	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type	.		2
HP:0025142	HP:0002027	Abdominal pain	2	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0025142	HP:0031064	Impaired continence	2	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence			111
HP:0025142	HP:0031064	Impaired continence	2	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to			111
HP:0025142	HP:0003418	Back pain	2	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele	.		111
HP:0025142	HP:0031064	Impaired continence	2	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to			2
HP:0025142	HP:0003326	Myalgia	2	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent		63
HP:0025142	HP:0003418	Back pain	2	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040283 - Occasional		63
HP:0025142	HP:0031064	Impaired continence	2	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation			63
HP:0025142	HP:0003418	Back pain	2	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.		63
HP:0025142	HP:0030838	Hip pain	2	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.		63
HP:0025142	HP:0030838	Hip pain	2	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		63
HP:0025142	HP:0002653	Bone pain	2	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040281 - Very frequent		63
HP:0025142	HP:0002829	Arthralgia	2	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040281 - Very frequent		63
HP:0025142	HP:0002653	Bone pain	2	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040281 - Very frequent		104
HP:0025142	HP:0002653	Bone pain	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0025142	HP:0002027	Abdominal pain	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0025142	HP:0100749	Chest pain	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		490
HP:0025142	HP:0032148	Episodic pain	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0025142	HP:0002027	Abdominal pain	2	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0025142	HP:0100749	Chest pain	2	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		490
HP:0025142	HP:0032148	Episodic pain	2	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0025142	HP:0002027	Abdominal pain	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0025142	HP:0003418	Back pain	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0025142	HP:0009763	Limb pain	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0025142	HP:0001645	Sudden cardiac death	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002027	Abdominal pain	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025142	HP:0002829	Arthralgia	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0025142	HP:0046506	Pain in head and neck region	2	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0025142	HP:0003326	Myalgia	2	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0025142	HP:0001645	Sudden cardiac death	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional		65
HP:0025142	HP:0100749	Chest pain	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional		65
HP:0025142	HP:0031064	Impaired continence	2	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8			83
HP:0025142	HP:0031064	Impaired continence	2	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant			83
HP:0025142	HP:0001645	Sudden cardiac death	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional		6
HP:0025142	HP:0100749	Chest pain	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional		6
HP:0025142	HP:0002653	Bone pain	2	WNT1 CL E G H	7471	12774	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040281 - Very frequent		12
HP:0025142	HP:0002653	Bone pain	2	WNT3A CL E G H	89780	15983	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040281 - Very frequent
HP:0025142	HP:0003418	Back pain	2	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0025142	HP:0002027	Abdominal pain	2	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040281 - Very frequent		177
HP:0025142	HP:0002027	Abdominal pain	2	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		177
HP:0025142	HP:0002027	Abdominal pain	2	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		177
HP:0025142	HP:0100749	Chest pain	2	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040282 - Frequent		149
HP:0025142	HP:0002829	Arthralgia	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		34
HP:0025142	HP:0002829	Arthralgia	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		86
HP:0025142	HP:0002027	Abdominal pain	2	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		1
HP:0025142	HP:0002653	Bone pain	2	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		1
HP:0025142	HP:0031064	Impaired continence	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0025142	HP:0046506	Pain in head and neck region	2	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0025142	HP:0046506	Pain in head and neck region	2	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0025142	HP:0031064	Impaired continence	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0025142	HP:0031064	Impaired continence	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0025142	HP:0031064	Impaired continence	2	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive			189
HP:0025142	HP:0030838	Hip pain	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0025142	HP:0031064	Impaired continence	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0025142	HP:0003326	Myalgia	2	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		397
HP:0025142	HP:0002653	Bone pain	2	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6	.		2
HP:0025142	HP:0002027	Abdominal pain	2	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0025142	HP:0005059	Arthralgia/arthritis	3	CL E G H
HP:0025142	HP:0011868	Sciatica	3	CL E G H
HP:0025142	HP:0012318	Occipital neuralgia	3	CL E G H
HP:0025142	HP:0032149	Breakthrough pain	3	CL E G H
HP:0025142	HP:0032150	Paroxysmal rectal pain	3	CL E G H
HP:0025142	HP:0032546	Abdominal guarding	3	CL E G H
HP:0025142	HP:0033400	Acute abdomen	3	CL E G H
HP:0025142	HP:0033746	Intrascapular pain	3	CL E G H
HP:0025142	HP:0033771	Pleuritic chest pain	3	CL E G H
HP:0025142	HP:0410022	Vaginal fish odor	3	CL E G H
HP:0025142	HP:0011848	Abdominal colic	3	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040281 - Very frequent		111
HP:0025142	HP:0000020	Urinary incontinence	3	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.		135
HP:0025142	HP:0002607	Bowel incontinence	3	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.		135
HP:0025142	HP:0000020	Urinary incontinence	3	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional		135
HP:0025142	HP:0002607	Bowel incontinence	3	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent		135
HP:0025142	HP:0003738	Exercise-induced myalgia	3	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		197
HP:0025142	HP:0003738	Exercise-induced myalgia	3	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency	.		200
HP:0025142	HP:0012514	Lower limb pain	3	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional		16
HP:0025142	HP:0000020	Urinary incontinence	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040281 - Very frequent		47
HP:0025142	HP:0200026	Ocular pain	3	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0025142	HP:0000020	Urinary incontinence	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare		54
HP:0025142	HP:0100661	Trigeminal neuralgia	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0025142	HP:0030766	Ear pain	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare		54
HP:0025142	HP:0011848	Abdominal colic	3	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic	.		62
HP:0025142	HP:0000020	Urinary incontinence	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		89
HP:0025142	HP:0003419	Low back pain	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		89
HP:0025142	HP:0012514	Lower limb pain	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		89
HP:0025142	HP:0000020	Urinary incontinence	3	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	HP:0040283 - Occasional		89
HP:0025142	HP:0000020	Urinary incontinence	3	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0025142	HP:0000020	Urinary incontinence	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0025142	HP:0000020	Urinary incontinence	3	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0025142	HP:0000020	Urinary incontinence	3	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		114
HP:0025142	HP:0000020	Urinary incontinence	3	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.		114
HP:0025142	HP:0003738	Exercise-induced myalgia	3	AMPD1 CL E G H	270	468	ORPHA:45	Adenosine monophosphate deaminase deficiency	HP:0040281 - Very frequent		62
HP:0025142	HP:0003738	Exercise-induced myalgia	3	AMPD1 CL E G H	270	468	OMIM:615511	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD			62
HP:0025142	HP:0003738	Exercise-induced myalgia	3	AMPD3 CL E G H	272	470	ORPHA:45	Adenosine monophosphate deaminase deficiency	HP:0040281 - Very frequent		65
HP:0025142	HP:0003738	Exercise-induced myalgia	3	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent		304
HP:0025142	HP:0003419	Low back pain	3	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0025142	HP:0000020	Urinary incontinence	3	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040282 - Frequent		165
HP:0025142	HP:0000020	Urinary incontinence	3	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.		165
HP:0025142	HP:0011848	Abdominal colic	3	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional		19
HP:0025142	HP:0000020	Urinary incontinence	3	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0025142	HP:0000020	Urinary incontinence	3	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		253
HP:0025142	HP:0002607	Bowel incontinence	3	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		253
HP:0025142	HP:0000020	Urinary incontinence	3	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent		253
HP:0025142	HP:0000020	Urinary incontinence	3	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent		253
HP:0025142	HP:0002607	Bowel incontinence	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0025142	HP:0000020	Urinary incontinence	3	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0025142	HP:0032155	Abdominal cramps	3	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		145
HP:0025142	HP:0000020	Urinary incontinence	3	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.		71
HP:0025142	HP:0000020	Urinary incontinence	3	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent		100
HP:0025142	HP:0002607	Bowel incontinence	3	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional		100
HP:0025142	HP:0012514	Lower limb pain	3	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040281 - Very frequent
HP:0025142	HP:0002574	Episodic abdominal pain	3	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent		169
HP:0025142	HP:0000020	Urinary incontinence	3	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.		9
HP:0025142	HP:0000020	Urinary incontinence	3	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0025142	HP:0000020	Urinary incontinence	3	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional		1
HP:0025142	HP:0000020	Urinary incontinence	3	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional		1
HP:0025142	HP:0000020	Urinary incontinence	3	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I	.		49
HP:0025142	HP:0012513	Upper limb pain	3	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis			8
HP:0025142	HP:0012514	Lower limb pain	3	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis			8
HP:0025142	HP:0000020	Urinary incontinence	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare		184
HP:0025142	HP:0100661	Trigeminal neuralgia	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0025142	HP:0030766	Ear pain	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare		184
HP:0025142	HP:0200026	Ocular pain	3	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare		184
HP:0025142	HP:0002607	Bowel incontinence	3	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		5
HP:0025142	HP:0000020	Urinary incontinence	3	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		99
HP:0025142	HP:0003738	Exercise-induced myalgia	3	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		99
HP:0025142	HP:0000020	Urinary incontinence	3	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO			22
HP:0025142	HP:0000020	Urinary incontinence	3	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040283 - Occasional		22
HP:0025142	HP:0012514	Lower limb pain	3	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17			105
HP:0025142	HP:0000020	Urinary incontinence	3	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent		114
HP:0025142	HP:0002607	Bowel incontinence	3	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent		114
HP:0025142	HP:0000020	Urinary incontinence	3	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		94
HP:0025142	HP:0000020	Urinary incontinence	3	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0025142	HP:0000020	Urinary incontinence	3	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional		32
HP:0025142	HP:0000020	Urinary incontinence	3	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare		75
HP:0025142	HP:0000020	Urinary incontinence	3	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0025142	HP:0003738	Exercise-induced myalgia	3	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease	.		148
HP:0025142	HP:0032155	Abdominal cramps	3	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		317
HP:0025142	HP:0000020	Urinary incontinence	3	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.		3
HP:0025142	HP:0002574	Episodic abdominal pain	3	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040283 - Occasional		169
HP:0025142	HP:0002574	Episodic abdominal pain	3	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040283 - Occasional		169
HP:0025142	HP:0002574	Episodic abdominal pain	3	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent		102
HP:0025142	HP:0000020	Urinary incontinence	3	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1	.		6
HP:0025142	HP:0002607	Bowel incontinence	3	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1	.		6
HP:0025142	HP:0031921	Gastrocnemius myalgia	3	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040282 - Frequent		11
HP:0025142	HP:0000020	Urinary incontinence	3	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.		42
HP:0025142	HP:0000020	Urinary incontinence	3	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		188
HP:0025142	HP:0000020	Urinary incontinence	3	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		225
HP:0025142	HP:0000020	Urinary incontinence	3	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		88
HP:0025142	HP:0200026	Ocular pain	3	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy	HP:0040283 - Occasional		129
HP:0025142	HP:0000020	Urinary incontinence	3	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0025142	HP:0000020	Urinary incontinence	3	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0025142	HP:0200026	Ocular pain	3	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040281 - Very frequent		129
HP:0025142	HP:0003419	Low back pain	3	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional		284
HP:0025142	HP:0012514	Lower limb pain	3	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0025142	HP:0012514	Lower limb pain	3	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0025142	HP:0410281	Dyspepsia	3	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		678
HP:0025142	HP:0032141	Precordial pain	3	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		678
HP:0025142	HP:0410281	Dyspepsia	3	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		18
HP:0025142	HP:0032141	Precordial pain	3	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		18
HP:0025142	HP:0200026	Ocular pain	3	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0025142	HP:0200026	Ocular pain	3	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		3
HP:0025142	HP:0012514	Lower limb pain	3	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6			110
HP:0025142	HP:0012514	Lower limb pain	3	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0025142	HP:0012514	Lower limb pain	3	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0025142	HP:0012514	Lower limb pain	3	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0025142	HP:0012514	Lower limb pain	3	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0025142	HP:0012514	Lower limb pain	3	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			137
HP:0025142	HP:0012513	Upper limb pain	3	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2			89
HP:0025142	HP:0012514	Lower limb pain	3	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0025142	HP:0012514	Lower limb pain	3	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0025142	HP:0002607	Bowel incontinence	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0025142	HP:0000020	Urinary incontinence	3	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0025142	HP:0000020	Urinary incontinence	3	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.		54
HP:0025142	HP:0003738	Exercise-induced myalgia	3	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0025142	HP:0003738	Exercise-induced myalgia	3	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0025142	HP:0000020	Urinary incontinence	3	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040282 - Frequent		1
HP:0025142	HP:0003738	Exercise-induced myalgia	3	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040281 - Very frequent		101
HP:0025142	HP:0002574	Episodic abdominal pain	3	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent		101
HP:0025142	HP:0003738	Exercise-induced myalgia	3	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent		101
HP:0025142	HP:0000020	Urinary incontinence	3	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		1
HP:0025142	HP:0002607	Bowel incontinence	3	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0025142	HP:0200026	Ocular pain	3	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040282 - Frequent		178
HP:0025142	HP:0000020	Urinary incontinence	3	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0025142	HP:0200026	Ocular pain	3	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare		1
HP:0025142	HP:0002607	Bowel incontinence	3	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0025142	HP:0002574	Episodic abdominal pain	3	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent
HP:0025142	HP:0000020	Urinary incontinence	3	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	HP:0040283 - Occasional		29
HP:0025142	HP:0002607	Bowel incontinence	3	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	HP:0040283 - Occasional		29
HP:0025142	HP:0000020	Urinary incontinence	3	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		172
HP:0025142	HP:0011848	Abdominal colic	3	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type			9
HP:0025142	HP:0000020	Urinary incontinence	3	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0025142	HP:0030833	Neck pain	3	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040281 - Very frequent
HP:0025142	HP:0002574	Episodic abdominal pain	3	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0025142	HP:0002607	Bowel incontinence	3	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0025142	HP:0000020	Urinary incontinence	3	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		167
HP:0025142	HP:0003738	Exercise-induced myalgia	3	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		167
HP:0025142	HP:0000020	Urinary incontinence	3	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional		145
HP:0025142	HP:0002574	Episodic abdominal pain	3	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		44
HP:0025142	HP:0000020	Urinary incontinence	3	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0025142	HP:0002607	Bowel incontinence	3	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040282 - Frequent		13
HP:0025142	HP:0003738	Exercise-induced myalgia	3	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040282 - Frequent		600
HP:0025142	HP:0003738	Exercise-induced myalgia	3	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent		600
HP:0025142	HP:0000020	Urinary incontinence	3	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0025142	HP:0002607	Bowel incontinence	3	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0025142	HP:0002574	Episodic abdominal pain	3	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		112
HP:0025142	HP:0002574	Episodic abdominal pain	3	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive	.		12
HP:0025142	HP:0012514	Lower limb pain	3	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040283 - Occasional		2
HP:0025142	HP:0002574	Episodic abdominal pain	3	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040282 - Frequent		13
HP:0025142	HP:0002574	Episodic abdominal pain	3	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0025142	HP:0000020	Urinary incontinence	3	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional		76
HP:0025142	HP:0002607	Bowel incontinence	3	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional		76
HP:0025142	HP:0000020	Urinary incontinence	3	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	HP:0040283 - Occasional		76
HP:0025142	HP:0000020	Urinary incontinence	3	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		7
HP:0025142	HP:0003419	Low back pain	3	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		7
HP:0025142	HP:0012514	Lower limb pain	3	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		7
HP:0025142	HP:0000020	Urinary incontinence	3	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional		36
HP:0025142	HP:0002574	Episodic abdominal pain	3	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		301
HP:0025142	HP:0000020	Urinary incontinence	3	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0025142	HP:0002574	Episodic abdominal pain	3	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional		8
HP:0025142	HP:0012513	Upper limb pain	3	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional		8
HP:0025142	HP:0003738	Exercise-induced myalgia	3	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040281 - Very frequent		197
HP:0025142	HP:0000020	Urinary incontinence	3	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0025142	HP:0002607	Bowel incontinence	3	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040284 - Very rare		111
HP:0025142	HP:0000020	Urinary incontinence	3	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0025142	HP:0002607	Bowel incontinence	3	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0025142	HP:0002607	Bowel incontinence	3	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040283 - Occasional		30
HP:0025142	HP:0000020	Urinary incontinence	3	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0025142	HP:0000020	Urinary incontinence	3	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0025142	HP:0002607	Bowel incontinence	3	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent		3
HP:0025142	HP:0000020	Urinary incontinence	3	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.		3
HP:0025142	HP:0000020	Urinary incontinence	3	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0025142	HP:0000020	Urinary incontinence	3	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare		134
HP:0025142	HP:0000020	Urinary incontinence	3	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare		57
HP:0025142	HP:0000020	Urinary incontinence	3	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare		139
HP:0025142	HP:0000020	Urinary incontinence	3	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040284 - Very rare		160
HP:0025142	HP:0000020	Urinary incontinence	3	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0025142	HP:0000020	Urinary incontinence	3	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040283 - Occasional		30
HP:0025142	HP:0000020	Urinary incontinence	3	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional		30
HP:0025142	HP:0000020	Urinary incontinence	3	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.		30
HP:0025142	HP:0000020	Urinary incontinence	3	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease	HP:0040281 - Very frequent		86
HP:0025142	HP:0000020	Urinary incontinence	3	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form			86
HP:0025142	HP:0012514	Lower limb pain	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0025142	HP:0012514	Lower limb pain	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0025142	HP:0000020	Urinary incontinence	3	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	HP:0040282 - Frequent		37
HP:0025142	HP:0200026	Ocular pain	3	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare		16
HP:0025142	HP:0200026	Ocular pain	3	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare		7
HP:0025142	HP:0002574	Episodic abdominal pain	3	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0025142	HP:0002607	Bowel incontinence	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0025142	HP:0200026	Ocular pain	3	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		33
HP:0025142	HP:0000020	Urinary incontinence	3	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040283 - Occasional		10
HP:0025142	HP:0012514	Lower limb pain	3	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0025142	HP:0000020	Urinary incontinence	3	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.		80
HP:0025142	HP:0002574	Episodic abdominal pain	3	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.		80
HP:0025142	HP:0000020	Urinary incontinence	3	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0025142	HP:0003419	Low back pain	3	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria			77
HP:0025142	HP:0002607	Bowel incontinence	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0025142	HP:0000020	Urinary incontinence	3	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to	.
HP:0025142	HP:0000020	Urinary incontinence	3	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to	.		2
HP:0025142	HP:0000020	Urinary incontinence	3	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040284 - Very rare		81
HP:0025142	HP:0030833	Neck pain	3	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040282 - Frequent		81
HP:0025142	HP:0000020	Urinary incontinence	3	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.		81
HP:0025142	HP:0003738	Exercise-induced myalgia	3	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3			31
HP:0025142	HP:0000020	Urinary incontinence	3	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent		9
HP:0025142	HP:0002607	Bowel incontinence	3	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome	HP:0040283 - Occasional		9
HP:0025142	HP:0000020	Urinary incontinence	3	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0025142	HP:0000020	Urinary incontinence	3	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040282 - Frequent		46
HP:0025142	HP:0000020	Urinary incontinence	3	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.		46
HP:0025142	HP:0000020	Urinary incontinence	3	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.		34
HP:0025142	HP:0002607	Bowel incontinence	3	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0025142	HP:0003419	Low back pain	3	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.		34
HP:0025142	HP:0012514	Lower limb pain	3	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0025142	HP:0030833	Neck pain	3	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0025142	HP:0012514	Lower limb pain	3	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0025142	HP:0012513	Upper limb pain	3	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0025142	HP:0000020	Urinary incontinence	3	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0025142	HP:0000020	Urinary incontinence	3	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0025142	HP:0002607	Bowel incontinence	3	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040283 - Occasional		2
HP:0025142	HP:0002607	Bowel incontinence	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0025142	HP:0000020	Urinary incontinence	3	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare
HP:0025142	HP:0000020	Urinary incontinence	3	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040283 - Occasional		17
HP:0025142	HP:0000020	Urinary incontinence	3	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040282 - Frequent		35
HP:0025142	HP:0000020	Urinary incontinence	3	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		321
HP:0025142	HP:0002574	Episodic abdominal pain	3	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		202
HP:0025142	HP:0000020	Urinary incontinence	3	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.		93
HP:0025142	HP:0000020	Urinary incontinence	3	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0025142	HP:0012513	Upper limb pain	3	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040282 - Frequent		110
HP:0025142	HP:0012514	Lower limb pain	3	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0025142	HP:0012514	Lower limb pain	3	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent		27
HP:0025142	HP:0030766	Ear pain	3	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		27
HP:0025142	HP:0012514	Lower limb pain	3	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent		23
HP:0025142	HP:0030766	Ear pain	3	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		23
HP:0025142	HP:0012513	Upper limb pain	3	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040282 - Frequent		173
HP:0025142	HP:0012514	Lower limb pain	3	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0025142	HP:0012514	Lower limb pain	3	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent		41
HP:0025142	HP:0030766	Ear pain	3	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		41
HP:0025142	HP:0012514	Lower limb pain	3	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent		4
HP:0025142	HP:0030766	Ear pain	3	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		4
HP:0025142	HP:0000020	Urinary incontinence	3	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0025142	HP:0002607	Bowel incontinence	3	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0025142	HP:0003738	Exercise-induced myalgia	3	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040282 - Frequent		35
HP:0025142	HP:0012514	Lower limb pain	3	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0025142	HP:0003738	Exercise-induced myalgia	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040283 - Occasional		645
HP:0025142	HP:0002607	Bowel incontinence	3	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0025142	HP:0012514	Lower limb pain	3	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0025142	HP:0003738	Exercise-induced myalgia	3	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0025142	HP:0002574	Episodic abdominal pain	3	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.		106
HP:0025142	HP:0000020	Urinary incontinence	3	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent		5
HP:0025142	HP:0002607	Bowel incontinence	3	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome	HP:0040283 - Occasional		5
HP:0025142	HP:0012513	Upper limb pain	3	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0025142	HP:0012514	Lower limb pain	3	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0025142	HP:0002607	Bowel incontinence	3	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0025142	HP:0002607	Bowel incontinence	3	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0025142	HP:0012514	Lower limb pain	3	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0025142	HP:0003738	Exercise-induced myalgia	3	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent		80
HP:0025142	HP:0002574	Episodic abdominal pain	3	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		84
HP:0025142	HP:0002574	Episodic abdominal pain	3	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		94
HP:0025142	HP:0002574	Episodic abdominal pain	3	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		4
HP:0025142	HP:0002574	Episodic abdominal pain	3	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0025142	HP:0012513	Upper limb pain	3	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional		203
HP:0025142	HP:0012514	Lower limb pain	3	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0025142	HP:0003738	Exercise-induced myalgia	3	MLIP CL E G H	90523	21355	OMIM:620138
HP:0025142	HP:0012514	Lower limb pain	3	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0025142	HP:0000020	Urinary incontinence	3	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.		17
HP:0025142	HP:0000020	Urinary incontinence	3	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040284 - Very rare		8
HP:0025142	HP:0000020	Urinary incontinence	3	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	HP:0040283 - Occasional		8
HP:0025142	HP:0002574	Episodic abdominal pain	3	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		26
HP:0025142	HP:0000020	Urinary incontinence	3	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		7
HP:0025142	HP:0003738	Exercise-induced myalgia	3	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		7
HP:0025142	HP:0000020	Urinary incontinence	3	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		19
HP:0025142	HP:0003738	Exercise-induced myalgia	3	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		19
HP:0025142	HP:0000020	Urinary incontinence	3	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0025142	HP:0003419	Low back pain	3	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0025142	HP:0000020	Urinary incontinence	3	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional		118
HP:0025142	HP:0000020	Urinary incontinence	3	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0025142	HP:0002574	Episodic abdominal pain	3	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		1952
HP:0025142	HP:0000020	Urinary incontinence	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare		220
HP:0025142	HP:0100661	Trigeminal neuralgia	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0025142	HP:0030766	Ear pain	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare		220
HP:0025142	HP:0000020	Urinary incontinence	3	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040283 - Occasional		117
HP:0025142	HP:0000020	Urinary incontinence	3	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.		117
HP:0025142	HP:0012514	Lower limb pain	3	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0025142	HP:0002574	Episodic abdominal pain	3	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		13
HP:0025142	HP:0002607	Bowel incontinence	3	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040284 - Very rare		9
HP:0025142	HP:0000020	Urinary incontinence	3	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0025142	HP:0000020	Urinary incontinence	3	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	.		144
HP:0025142	HP:0000020	Urinary incontinence	3	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy			144
HP:0025142	HP:0030811	Tongue pain	3	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional		97
HP:0025142	HP:0200026	Ocular pain	3	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		4
HP:0025142	HP:0000020	Urinary incontinence	3	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.		55
HP:0025142	HP:0000020	Urinary incontinence	3	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to	.		1
HP:0025142	HP:0000020	Urinary incontinence	3	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		9
HP:0025142	HP:0000020	Urinary incontinence	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare		9
HP:0025142	HP:0100661	Trigeminal neuralgia	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0025142	HP:0030766	Ear pain	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare		9
HP:0025142	HP:0000020	Urinary incontinence	3	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		28
HP:0025142	HP:0000020	Urinary incontinence	3	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B	.		4
HP:0025142	HP:0003738	Exercise-induced myalgia	3	PGAM2 CL E G H	5224	8889	OMIM:261670	Phosphoglycerate mutase, muscle, deficiency of	.		26
HP:0025142	HP:0003738	Exercise-induced myalgia	3	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040282 - Frequent		21
HP:0025142	HP:0003738	Exercise-induced myalgia	3	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked	.		54
HP:0025142	HP:0002574	Episodic abdominal pain	3	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent		46
HP:0025142	HP:0000020	Urinary incontinence	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare		162
HP:0025142	HP:0100661	Trigeminal neuralgia	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0025142	HP:0030766	Ear pain	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare		162
HP:0025142	HP:0032545	Abdominal rigidity	3	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional		563
HP:0025142	HP:0002607	Bowel incontinence	3	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040282 - Frequent		60
HP:0025142	HP:0032141	Precordial pain	3	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent		65
HP:0025142	HP:0002574	Episodic abdominal pain	3	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040283 - Occasional		60
HP:0025142	HP:0032155	Abdominal cramps	3	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0025142	HP:0000020	Urinary incontinence	3	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10			1
HP:0025142	HP:0012514	Lower limb pain	3	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040282 - Frequent		37
HP:0025142	HP:0012514	Lower limb pain	3	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.		37
HP:0025142	HP:0100661	Trigeminal neuralgia	3	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040283 - Occasional		69
HP:0025142	HP:0000020	Urinary incontinence	3	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.		81
HP:0025142	HP:0000020	Urinary incontinence	3	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		81
HP:0025142	HP:0002607	Bowel incontinence	3	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		81
HP:0025142	HP:0000020	Urinary incontinence	3	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent		81
HP:0025142	HP:0000020	Urinary incontinence	3	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent		81
HP:0025142	HP:0003738	Exercise-induced myalgia	3	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040283 - Occasional		166
HP:0025142	HP:0003738	Exercise-induced myalgia	3	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V			166
HP:0025142	HP:0012514	Lower limb pain	3	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional		88
HP:0025142	HP:0030833	Neck pain	3	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional		88
HP:0025142	HP:0002574	Episodic abdominal pain	3	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		572
HP:0025142	HP:0002574	Episodic abdominal pain	3	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		572
HP:0025142	HP:0000020	Urinary incontinence	3	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.		54
HP:0025142	HP:0003738	Exercise-induced myalgia	3	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		3
HP:0025142	HP:0000020	Urinary incontinence	3	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0025142	HP:0002607	Bowel incontinence	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0025142	HP:0003738	Exercise-induced myalgia	3	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		125
HP:0025142	HP:0000020	Urinary incontinence	3	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70			2
HP:0025142	HP:0000020	Urinary incontinence	3	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent		25
HP:0025142	HP:0002607	Bowel incontinence	3	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040283 - Occasional		25
HP:0025142	HP:0000020	Urinary incontinence	3	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.		25
HP:0025142	HP:0032155	Abdominal cramps	3	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		181
HP:0025142	HP:0000020	Urinary incontinence	3	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0025142	HP:0003738	Exercise-induced myalgia	3	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0025142	HP:0003738	Exercise-induced myalgia	3	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0025142	HP:0003738	Exercise-induced myalgia	3	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.		1200
HP:0025142	HP:0000020	Urinary incontinence	3	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent		309
HP:0025142	HP:0002607	Bowel incontinence	3	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0025142	HP:0000020	Urinary incontinence	3	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3	HP:0040283 - Occasional		16
HP:0025142	HP:0002607	Bowel incontinence	3	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional		263
HP:0025142	HP:0000020	Urinary incontinence	3	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive	.		318
HP:0025142	HP:0200026	Ocular pain	3	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder	.		318
HP:0025142	HP:0002574	Episodic abdominal pain	3	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		304
HP:0025142	HP:0002574	Episodic abdominal pain	3	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		55
HP:0025142	HP:0002574	Episodic abdominal pain	3	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		237
HP:0025142	HP:0002574	Episodic abdominal pain	3	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		237
HP:0025142	HP:0002574	Episodic abdominal pain	3	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		147
HP:0025142	HP:0002574	Episodic abdominal pain	3	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040282 - Frequent		129
HP:0025142	HP:0002574	Episodic abdominal pain	3	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		129
HP:0025142	HP:0002574	Episodic abdominal pain	3	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		129
HP:0025142	HP:0002607	Bowel incontinence	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0025142	HP:0200026	Ocular pain	3	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare		19
HP:0025142	HP:0100661	Trigeminal neuralgia	3	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040284 - Very rare		493
HP:0025142	HP:0011848	Abdominal colic	3	SI CL E G H	6476	10856	ORPHA:35122	Congenital sucrase-isomaltase deficiency	HP:0040283 - Occasional		98
HP:0025142	HP:0000020	Urinary incontinence	3	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0025142	HP:0000020	Urinary incontinence	3	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0025142	HP:0000020	Urinary incontinence	3	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional		4
HP:0025142	HP:0000020	Urinary incontinence	3	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		70
HP:0025142	HP:0002574	Episodic abdominal pain	3	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0025142	HP:0000020	Urinary incontinence	3	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare		255
HP:0025142	HP:0200026	Ocular pain	3	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	HP:0040284 - Very rare		5
HP:0025142	HP:0000020	Urinary incontinence	3	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0025142	HP:0002607	Bowel incontinence	3	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0025142	HP:0200026	Ocular pain	3	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0025142	HP:0000020	Urinary incontinence	3	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.		93
HP:0025142	HP:0002607	Bowel incontinence	3	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.		93
HP:0025142	HP:0012514	Lower limb pain	3	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant			13
HP:0025142	HP:0012514	Lower limb pain	3	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2			13
HP:0025142	HP:0000020	Urinary incontinence	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare		87
HP:0025142	HP:0100661	Trigeminal neuralgia	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0025142	HP:0030766	Ear pain	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare		87
HP:0025142	HP:0000020	Urinary incontinence	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare		47
HP:0025142	HP:0100661	Trigeminal neuralgia	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0025142	HP:0030766	Ear pain	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare		47
HP:0025142	HP:0000020	Urinary incontinence	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare		22
HP:0025142	HP:0100661	Trigeminal neuralgia	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0025142	HP:0030766	Ear pain	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare		22
HP:0025142	HP:0000020	Urinary incontinence	3	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0025142	HP:0003419	Low back pain	3	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0025142	HP:0000020	Urinary incontinence	3	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile			287
HP:0025142	HP:0000020	Urinary incontinence	3	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		287
HP:0025142	HP:0000020	Urinary incontinence	3	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0025142	HP:0000020	Urinary incontinence	3	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.		171
HP:0025142	HP:0012514	Lower limb pain	3	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040284 - Very rare		171
HP:0025142	HP:0000020	Urinary incontinence	3	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		54
HP:0025142	HP:0000020	Urinary incontinence	3	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	HP:0040283 - Occasional		62
HP:0025142	HP:0032155	Abdominal cramps	3	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		1
HP:0025142	HP:0002574	Episodic abdominal pain	3	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		45
HP:0025142	HP:0003419	Low back pain	3	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare		1
HP:0025142	HP:0003738	Exercise-induced myalgia	3	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.		31
HP:0025142	HP:0000020	Urinary incontinence	3	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0025142	HP:0000020	Urinary incontinence	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare		124
HP:0025142	HP:0100661	Trigeminal neuralgia	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0025142	HP:0030766	Ear pain	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare		124
HP:0025142	HP:0000020	Urinary incontinence	3	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional		1129
HP:0025142	HP:0000020	Urinary incontinence	3	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional		16
HP:0025142	HP:0002607	Bowel incontinence	3	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040284 - Very rare		16
HP:0025142	HP:0000020	Urinary incontinence	3	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0025142	HP:0002607	Bowel incontinence	3	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0025142	HP:0000020	Urinary incontinence	3	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.		7
HP:0025142	HP:0002607	Bowel incontinence	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0025142	HP:0003419	Low back pain	3	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5	.		19
HP:0025142	HP:0000020	Urinary incontinence	3	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0025142	HP:0200026	Ocular pain	3	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0025142	HP:0000020	Urinary incontinence	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare		238
HP:0025142	HP:0100661	Trigeminal neuralgia	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0025142	HP:0030766	Ear pain	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare		238
HP:0025142	HP:0032155	Abdominal cramps	3	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		3
HP:0025142	HP:0012514	Lower limb pain	3	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0025142	HP:0200026	Ocular pain	3	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I			58
HP:0025142	HP:0200026	Ocular pain	3	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040282 - Frequent		58
HP:0025142	HP:0200026	Ocular pain	3	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy	HP:0040282 - Frequent		58
HP:0025142	HP:0000020	Urinary incontinence	3	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040283 - Occasional		1
HP:0025142	HP:0000020	Urinary incontinence	3	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	HP:0040284 - Very rare		1
HP:0025142	HP:0002574	Episodic abdominal pain	3	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		131
HP:0025142	HP:0012514	Lower limb pain	3	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0025142	HP:0030833	Neck pain	3	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0025142	HP:0002607	Bowel incontinence	3	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040283 - Occasional		140
HP:0025142	HP:0000020	Urinary incontinence	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0025142	HP:0100661	Trigeminal neuralgia	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0025142	HP:0030766	Ear pain	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0025142	HP:0012514	Lower limb pain	3	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0025142	HP:0003738	Exercise-induced myalgia	3	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.		108
HP:0025142	HP:0000020	Urinary incontinence	3	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0025142	HP:0012514	Lower limb pain	3	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040282 - Frequent
HP:0025142	HP:0000020	Urinary incontinence	3	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0025142	HP:0000020	Urinary incontinence	3	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.		107
HP:0025142	HP:0002574	Episodic abdominal pain	3	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		85
HP:0025142	HP:0032155	Abdominal cramps	3	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0025142	HP:0000020	Urinary incontinence	3	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0025142	HP:0000020	Urinary incontinence	3	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent
HP:0025142	HP:0002607	Bowel incontinence	3	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040283 - Occasional
HP:0025142	HP:0002607	Bowel incontinence	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0025142	HP:0002607	Bowel incontinence	3	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent		111
HP:0025142	HP:0000020	Urinary incontinence	3	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.		111
HP:0025142	HP:0000020	Urinary incontinence	3	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.		2
HP:0025142	HP:0000020	Urinary incontinence	3	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040283 - Occasional		63
HP:0025142	HP:0002607	Bowel incontinence	3	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040283 - Occasional		63
HP:0025142	HP:0002574	Episodic abdominal pain	3	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		490
HP:0025142	HP:0002574	Episodic abdominal pain	3	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		490
HP:0025142	HP:0200026	Ocular pain	3	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		47
HP:0025142	HP:0000020	Urinary incontinence	3	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040282 - Frequent		83
HP:0025142	HP:0000020	Urinary incontinence	3	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.		83
HP:0025142	HP:0003419	Low back pain	3	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0025142	HP:0000020	Urinary incontinence	3	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0025142	HP:0200026	Ocular pain	3	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0025142	HP:0200026	Ocular pain	3	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		8
HP:0025142	HP:0000020	Urinary incontinence	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent		362
HP:0025142	HP:0002607	Bowel incontinence	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent		362
HP:0025142	HP:0000020	Urinary incontinence	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent		362
HP:0025142	HP:0002607	Bowel incontinence	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent		362
HP:0025142	HP:0000020	Urinary incontinence	3	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.		189
HP:0025142	HP:0002607	Bowel incontinence	3	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.		189
HP:0025142	HP:0000020	Urinary incontinence	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0025142	HP:0030835	Elbow pain	4	CL E G H
HP:0025142	HP:0030841	Toe pain	4	CL E G H
HP:0025142	HP:0030857	Eye movement-induced pain	4	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0025142	HP:0030836	Wrist pain	4	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional		8
HP:0025142	HP:0030839	Knee pain	4	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional		8
HP:0025142	HP:0030839	Knee pain	4	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040283 - Occasional		105
HP:0025142	HP:0030839	Knee pain	4	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent		284
HP:0025142	HP:0030839	Knee pain	4	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional		284
HP:0025142	HP:0030857	Eye movement-induced pain	4	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0025142	HP:0030839	Knee pain	4	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6			110
HP:0025142	HP:0030839	Knee pain	4	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent		110
HP:0025142	HP:0025238	Foot pain	4	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0025142	HP:0030839	Knee pain	4	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0025142	HP:0030839	Knee pain	4	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent		110
HP:0025142	HP:0030839	Knee pain	4	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0025142	HP:0030839	Knee pain	4	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent		137
HP:0025142	HP:0046505	Hand pain	4	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2			89
HP:0025142	HP:0030840	Ankle pain	4	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0025142	HP:0030839	Knee pain	4	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040282 - Frequent		89
HP:0025142	HP:0030840	Ankle pain	4	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040283 - Occasional		89
HP:0025142	HP:0040183	Encopresis	4	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0025142	HP:0030839	Knee pain	4	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0025142	HP:0030839	Knee pain	4	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0025142	HP:0030839	Knee pain	4	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0025142	HP:0030840	Ankle pain	4	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0025142	HP:0046505	Hand pain	4	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0025142	HP:0025238	Foot pain	4	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent		110
HP:0025142	HP:0025238	Foot pain	4	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent		173
HP:0025142	HP:0030840	Ankle pain	4	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0025142	HP:0030839	Knee pain	4	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0025142	HP:0030836	Wrist pain	4	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0025142	HP:0030840	Ankle pain	4	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0025142	HP:0040183	Encopresis	4	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0025142	HP:0030839	Knee pain	4	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040282 - Frequent		32
HP:0025142	HP:0030840	Ankle pain	4	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040283 - Occasional		32
HP:0025142	HP:0025238	Foot pain	4	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent		203
HP:0025142	HP:0010992	Stress urinary incontinence	4	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional		144
HP:0025142	HP:0030857	Eye movement-induced pain	4	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0025142	HP:0030839	Knee pain	4	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant			13
HP:0025142	HP:0030839	Knee pain	4	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2			13
HP:0025142	HP:0030857	Eye movement-induced pain	4	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0025142	HP:0030839	Knee pain	4	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0025142	HP:0030839	Knee pain	4	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent		46
HP:0025142	HP:0030857	Eye movement-induced pain	4	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0025142	HP:0030837	Finger pain	5	CL E G H
HP:0025142	HP:0032102	Wilson sign	5	CL E G H