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:0012531	HP:0012531	Pain	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040283 - Occasional		7
HP:0012531	HP:0012531	Pain	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0012531	HP:0012531	Pain	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0012531	HP:0012531	Pain	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0012531	HP:0012531	Pain	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0012531	HP:0012531	Pain	0	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome			119
HP:0012531	HP:0012531	Pain	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0012531	HP:0012531	Pain	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0012531	HP:0012531	Pain	0	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease			135
HP:0012531	HP:0012531	Pain	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia			67
HP:0012531	HP:0012531	Pain	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia			76
HP:0012531	HP:0012531	Pain	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0012531	HP:0012531	Pain	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0012531	HP:0012531	Pain	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0012531	HP:0012531	Pain	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		200
HP:0012531	HP:0012531	Pain	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0012531	HP:0012531	Pain	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0012531	HP:0012531	Pain	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			94
HP:0012531	HP:0012531	Pain	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0012531	HP:0012531	Pain	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1			23
HP:0012531	HP:0012531	Pain	0	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			27
HP:0012531	HP:0012531	Pain	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0012531	HP:0012531	Pain	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067				1
HP:0012531	HP:0012531	Pain	0	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0012531	HP:0012531	Pain	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I			260
HP:0012531	HP:0012531	Pain	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0012531	HP:0012531	Pain	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0012531	HP:0012531	Pain	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0012531	HP:0012531	Pain	0	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic			62
HP:0012531	HP:0012531	Pain	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0012531	HP:0012531	Pain	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0012531	HP:0012531	Pain	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency			50
HP:0012531	HP:0012531	Pain	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0012531	HP:0012531	Pain	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance			73
HP:0012531	HP:0012531	Pain	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent
HP:0012531	HP:0012531	Pain	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		93
HP:0012531	HP:0012531	Pain	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0012531	HP:0012531	Pain	0	AMPD1 CL E G H	270	468	ORPHA:45	Adenosine monophosphate deaminase deficiency			62
HP:0012531	HP:0012531	Pain	0	AMPD1 CL E G H	270	468	OMIM:615511	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD			62
HP:0012531	HP:0012531	Pain	0	AMPD3 CL E G H	272	470	ORPHA:45	Adenosine monophosphate deaminase deficiency			65
HP:0012531	HP:0012531	Pain	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		32
HP:0012531	HP:0012531	Pain	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0012531	HP:0012531	Pain	0	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012531	HP:0012531	Pain	0	ANKH CL E G H	56172	15492	ORPHA:1416	Familial calcium pyrophosphate deposition			164
HP:0012531	HP:0012531	Pain	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012531	HP:0012531	Pain	0	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			6
HP:0012531	HP:0012531	Pain	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0012531	HP:0012531	Pain	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L			304
HP:0012531	HP:0012531	Pain	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0012531	HP:0012531	Pain	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0012531	HP:0012531	Pain	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0012531	HP:0012531	Pain	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III			6
HP:0012531	HP:0012531	Pain	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor			3179
HP:0012531	HP:0012531	Pain	0	APC CL E G H	324	583	OMIM:619182	GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS			3179
HP:0012531	HP:0012531	Pain	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0012531	HP:0012531	Pain	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia			356
HP:0012531	HP:0012531	Pain	0	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0012531	HP:0012531	Pain	0	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency			19
HP:0012531	HP:0012531	Pain	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency			19
HP:0012531	HP:0012531	Pain	0	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0012531	HP:0012531	Pain	0	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0012531	HP:0012531	Pain	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0012531	HP:0012531	Pain	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0012531	HP:0012531	Pain	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0012531	HP:0012531	Pain	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0012531	HP:0012531	Pain	0	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis			2
HP:0012531	HP:0012531	Pain	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0012531	HP:0012531	Pain	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0012531	HP:0012531	Pain	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			71
HP:0012531	HP:0012531	Pain	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			5
HP:0012531	HP:0012531	Pain	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0012531	HP:0012531	Pain	0	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease			192
HP:0012531	HP:0012531	Pain	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0012531	HP:0012531	Pain	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0012531	HP:0012531	Pain	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0012531	HP:0012531	Pain	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0012531	HP:0012531	Pain	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0012531	HP:0012531	Pain	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis			8
HP:0012531	HP:0012531	Pain	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0012531	HP:0012531	Pain	0	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma			184
HP:0012531	HP:0012531	Pain	0	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma			184
HP:0012531	HP:0012531	Pain	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0012531	HP:0012531	Pain	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma			18
HP:0012531	HP:0012531	Pain	0	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0012531	HP:0012531	Pain	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0012531	HP:0012531	Pain	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0012531	HP:0012531	Pain	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		5
HP:0012531	HP:0012531	Pain	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0012531	HP:0012531	Pain	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma
HP:0012531	HP:0012531	Pain	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0012531	HP:0012531	Pain	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0012531	HP:0012531	Pain	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0012531	HP:0012531	Pain	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0012531	HP:0012531	Pain	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome			385
HP:0012531	HP:0012531	Pain	0	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma			5769
HP:0012531	HP:0012531	Pain	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0012531	HP:0012531	Pain	0	BRCA1 CL E G H	672	1100	ORPHA:168829	Primary peritoneal carcinoma			5769
HP:0012531	HP:0012531	Pain	0	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma			7642
HP:0012531	HP:0012531	Pain	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0012531	HP:0012531	Pain	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma			7642
HP:0012531	HP:0012531	Pain	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17			105
HP:0012531	HP:0012531	Pain	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0012531	HP:0012531	Pain	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0012531	HP:0012531	Pain	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0012531	HP:0012531	Pain	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25			2
HP:0012531	HP:0012531	Pain	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0012531	HP:0012531	Pain	0	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2			7
HP:0012531	HP:0012531	Pain	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0012531	HP:0012531	Pain	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		56
HP:0012531	HP:0012531	Pain	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0012531	HP:0012531	Pain	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia			1
HP:0012531	HP:0012531	Pain	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis			1
HP:0012531	HP:0012531	Pain	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4			323
HP:0012531	HP:0012531	Pain	0	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30			1
HP:0012531	HP:0012531	Pain	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040283 - Occasional		35
HP:0012531	HP:0012531	Pain	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0012531	HP:0012531	Pain	0	CASQ1 CL E G H	844	1512	OMIM:616231	Myopathy, vacuolar, with CASQ1 aggregates			5
HP:0012531	HP:0012531	Pain	0	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy			5
HP:0012531	HP:0012531	Pain	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia			272
HP:0012531	HP:0012531	Pain	0	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis			272
HP:0012531	HP:0012531	Pain	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040284 - Very rare		5
HP:0012531	HP:0012531	Pain	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis			11
HP:0012531	HP:0012531	Pain	0	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum			148
HP:0012531	HP:0012531	Pain	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type			148
HP:0012531	HP:0012531	Pain	0	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9			148
HP:0012531	HP:0012531	Pain	0	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease			148
HP:0012531	HP:0012531	Pain	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0012531	HP:0012531	Pain	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0012531	HP:0012531	Pain	0	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4			25
HP:0012531	HP:0012531	Pain	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0012531	HP:0012531	Pain	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0012531	HP:0012531	Pain	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0012531	HP:0012531	Pain	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0012531	HP:0012531	Pain	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0012531	HP:0012531	Pain	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0012531	HP:0012531	Pain	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0012531	HP:0012531	Pain	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0012531	HP:0012531	Pain	0	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0012531	HP:0012531	Pain	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0012531	HP:0012531	Pain	0	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			105
HP:0012531	HP:0012531	Pain	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0012531	HP:0012531	Pain	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy			9
HP:0012531	HP:0012531	Pain	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0012531	HP:0012531	Pain	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0012531	HP:0012531	Pain	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0012531	HP:0012531	Pain	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0012531	HP:0012531	Pain	0	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0012531	HP:0012531	Pain	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0012531	HP:0012531	Pain	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0012531	HP:0012531	Pain	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0012531	HP:0012531	Pain	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma			289
HP:0012531	HP:0012531	Pain	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0012531	HP:0012531	Pain	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0012531	HP:0012531	Pain	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0012531	HP:0012531	Pain	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain			3
HP:0012531	HP:0012531	Pain	0	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction			25
HP:0012531	HP:0012531	Pain	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0012531	HP:0012531	Pain	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0012531	HP:0012531	Pain	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0012531	HP:0012531	Pain	0	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis			1371
HP:0012531	HP:0012531	Pain	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis			1371
HP:0012531	HP:0012531	Pain	0	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary			1371
HP:0012531	HP:0012531	Pain	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0012531	HP:0012531	Pain	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0012531	HP:0012531	Pain	0	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent		833
HP:0012531	HP:0012531	Pain	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		42
HP:0012531	HP:0012531	Pain	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0012531	HP:0012531	Pain	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0012531	HP:0012531	Pain	0	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy			129
HP:0012531	HP:0012531	Pain	0	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA			118
HP:0012531	HP:0012531	Pain	0	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant			133
HP:0012531	HP:0012531	Pain	0	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive			133
HP:0012531	HP:0012531	Pain	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0012531	HP:0012531	Pain	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0012531	HP:0012531	Pain	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0012531	HP:0012531	Pain	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0012531	HP:0012531	Pain	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0012531	HP:0012531	Pain	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0012531	HP:0012531	Pain	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0012531	HP:0012531	Pain	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0012531	HP:0012531	Pain	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia			38
HP:0012531	HP:0012531	Pain	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2			1
HP:0012531	HP:0012531	Pain	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type			79
HP:0012531	HP:0012531	Pain	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0012531	HP:0012531	Pain	0	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			222
HP:0012531	HP:0012531	Pain	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0012531	HP:0012531	Pain	0	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III			222
HP:0012531	HP:0012531	Pain	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040283 - Occasional		2
HP:0012531	HP:0012531	Pain	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0012531	HP:0012531	Pain	0	COL17A1 CL E G H	1308	2194	OMIM:122400	Epithelial recurrent erosion dystrophy	.		129
HP:0012531	HP:0012531	Pain	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0012531	HP:0012531	Pain	0	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			284
HP:0012531	HP:0012531	Pain	0	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1			284
HP:0012531	HP:0012531	Pain	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type			284
HP:0012531	HP:0012531	Pain	0	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head			284
HP:0012531	HP:0012531	Pain	0	COL2A1 CL E G H	1280	2200	ORPHA:2380	Legg-Calvé-Perthes disease			284
HP:0012531	HP:0012531	Pain	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0012531	HP:0012531	Pain	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0012531	HP:0012531	Pain	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0012531	HP:0012531	Pain	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type			284
HP:0012531	HP:0012531	Pain	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0012531	HP:0012531	Pain	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0012531	HP:0012531	Pain	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0012531	HP:0012531	Pain	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0012531	HP:0012531	Pain	0	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			161
HP:0012531	HP:0012531	Pain	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0012531	HP:0012531	Pain	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0012531	HP:0012531	Pain	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0012531	HP:0012531	Pain	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0012531	HP:0012531	Pain	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0012531	HP:0012531	Pain	0	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0012531	HP:0012531	Pain	0	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0012531	HP:0012531	Pain	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6			110
HP:0012531	HP:0012531	Pain	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0012531	HP:0012531	Pain	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0012531	HP:0012531	Pain	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0012531	HP:0012531	Pain	0	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0012531	HP:0012531	Pain	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			137
HP:0012531	HP:0012531	Pain	0	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2			89
HP:0012531	HP:0012531	Pain	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0012531	HP:0012531	Pain	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0012531	HP:0012531	Pain	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0012531	HP:0012531	Pain	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0012531	HP:0012531	Pain	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0012531	HP:0012531	Pain	0	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK			5
HP:0012531	HP:0012531	Pain	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0012531	HP:0012531	Pain	0	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			35
HP:0012531	HP:0012531	Pain	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0012531	HP:0012531	Pain	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012531	HP:0012531	Pain	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012531	HP:0012531	Pain	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0012531	HP:0012531	Pain	0	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis			5
HP:0012531	HP:0012531	Pain	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0012531	HP:0012531	Pain	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0012531	HP:0012531	Pain	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form			101
HP:0012531	HP:0012531	Pain	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0012531	HP:0012531	Pain	0	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced			101
HP:0012531	HP:0012531	Pain	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0012531	HP:0012531	Pain	0	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7			10
HP:0012531	HP:0012531	Pain	0	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			12
HP:0012531	HP:0012531	Pain	0	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia			24
HP:0012531	HP:0012531	Pain	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0012531	HP:0012531	Pain	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0012531	HP:0012531	Pain	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0012531	HP:0012531	Pain	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma			88
HP:0012531	HP:0012531	Pain	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor			88
HP:0012531	HP:0012531	Pain	0	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma			88
HP:0012531	HP:0012531	Pain	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis			178
HP:0012531	HP:0012531	Pain	0	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis			39
HP:0012531	HP:0012531	Pain	0	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary			39
HP:0012531	HP:0012531	Pain	0	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0012531	HP:0012531	Pain	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0012531	HP:0012531	Pain	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0012531	HP:0012531	Pain	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0012531	HP:0012531	Pain	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0012531	HP:0012531	Pain	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0012531	HP:0012531	Pain	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0012531	HP:0012531	Pain	0	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma			1
HP:0012531	HP:0012531	Pain	0	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012531	HP:0012531	Pain	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0012531	HP:0012531	Pain	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0012531	HP:0012531	Pain	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency			80
HP:0012531	HP:0012531	Pain	0	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements			36
HP:0012531	HP:0012531	Pain	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		86
HP:0012531	HP:0012531	Pain	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0012531	HP:0012531	Pain	0	DDIT3 CL E G H	1649	2726	ORPHA:99967	Myxoid/round cell liposarcoma
HP:0012531	HP:0012531	Pain	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0012531	HP:0012531	Pain	0	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional		172
HP:0012531	HP:0012531	Pain	0	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type			9
HP:0012531	HP:0012531	Pain	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0012531	HP:0012531	Pain	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma			164
HP:0012531	HP:0012531	Pain	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0012531	HP:0012531	Pain	0	DKK1 CL E G H	22943	2891	ORPHA:85193	Idiopathic juvenile osteoporosis
HP:0012531	HP:0012531	Pain	0	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus
HP:0012531	HP:0012531	Pain	0	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0012531	HP:0012531	Pain	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0012531	HP:0012531	Pain	0	DMD CL E G H	1756	2928	ORPHA:98895	Becker muscular dystrophy			1496
HP:0012531	HP:0012531	Pain	0	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type			1496
HP:0012531	HP:0012531	Pain	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0012531	HP:0012531	Pain	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0012531	HP:0012531	Pain	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0012531	HP:0012531	Pain	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0012531	HP:0012531	Pain	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0012531	HP:0012531	Pain	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent
HP:0012531	HP:0012531	Pain	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E			103
HP:0012531	HP:0012531	Pain	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0012531	HP:0012531	Pain	0	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements			2
HP:0012531	HP:0012531	Pain	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0012531	HP:0012531	Pain	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0012531	HP:0012531	Pain	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0012531	HP:0012531	Pain	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0012531	HP:0012531	Pain	0	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG			9
HP:0012531	HP:0012531	Pain	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0012531	HP:0012531	Pain	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10			358
HP:0012531	HP:0012531	Pain	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0012531	HP:0012531	Pain	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy			600
HP:0012531	HP:0012531	Pain	0	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease			13
HP:0012531	HP:0012531	Pain	0	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease			67
HP:0012531	HP:0012531	Pain	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome			67
HP:0012531	HP:0012531	Pain	0	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease			55
HP:0012531	HP:0012531	Pain	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome			55
HP:0012531	HP:0012531	Pain	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0012531	HP:0012531	Pain	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0012531	HP:0012531	Pain	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia			79
HP:0012531	HP:0012531	Pain	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia			79
HP:0012531	HP:0012531	Pain	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0012531	HP:0012531	Pain	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			172
HP:0012531	HP:0012531	Pain	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0012531	HP:0012531	Pain	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0012531	HP:0012531	Pain	0	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0012531	HP:0012531	Pain	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0012531	HP:0012531	Pain	0	ENO3 CL E G H	2027	3354	OMIM:612932	Glycogen storage disease XIII			34
HP:0012531	HP:0012531	Pain	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0012531	HP:0012531	Pain	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0012531	HP:0012531	Pain	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0012531	HP:0012531	Pain	0	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0012531	HP:0012531	Pain	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0012531	HP:0012531	Pain	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0012531	HP:0012531	Pain	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0012531	HP:0012531	Pain	0	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia			43
HP:0012531	HP:0012531	Pain	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0012531	HP:0012531	Pain	0	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease			77
HP:0012531	HP:0012531	Pain	0	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease			12
HP:0012531	HP:0012531	Pain	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0012531	HP:0012531	Pain	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		15
HP:0012531	HP:0012531	Pain	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0012531	HP:0012531	Pain	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0012531	HP:0012531	Pain	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0012531	HP:0012531	Pain	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0012531	HP:0012531	Pain	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62			2
HP:0012531	HP:0012531	Pain	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0012531	HP:0012531	Pain	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0012531	HP:0012531	Pain	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040282 - Frequent		96
HP:0012531	HP:0012531	Pain	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0012531	HP:0012531	Pain	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040282 - Frequent		102
HP:0012531	HP:0012531	Pain	0	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0012531	HP:0012531	Pain	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0012531	HP:0012531	Pain	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A			303
HP:0012531	HP:0012531	Pain	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A			303
HP:0012531	HP:0012531	Pain	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0012531	HP:0012531	Pain	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0012531	HP:0012531	Pain	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0012531	HP:0012531	Pain	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			1361
HP:0012531	HP:0012531	Pain	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0012531	HP:0012531	Pain	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0012531	HP:0012531	Pain	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0012531	HP:0012531	Pain	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets			51
HP:0012531	HP:0012531	Pain	0	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant			51
HP:0012531	HP:0012531	Pain	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0012531	HP:0012531	Pain	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy			68
HP:0012531	HP:0012531	Pain	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0012531	HP:0012531	Pain	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		111
HP:0012531	HP:0012531	Pain	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0012531	HP:0012531	Pain	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0012531	HP:0012531	Pain	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			157
HP:0012531	HP:0012531	Pain	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0012531	HP:0012531	Pain	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0012531	HP:0012531	Pain	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			184
HP:0012531	HP:0012531	Pain	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0012531	HP:0012531	Pain	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0012531	HP:0012531	Pain	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0012531	HP:0012531	Pain	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0012531	HP:0012531	Pain	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0012531	HP:0012531	Pain	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome			30
HP:0012531	HP:0012531	Pain	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0012531	HP:0012531	Pain	0	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional		9
HP:0012531	HP:0012531	Pain	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			23
HP:0012531	HP:0012531	Pain	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma			184
HP:0012531	HP:0012531	Pain	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome			50
HP:0012531	HP:0012531	Pain	0	FSHR CL E G H	2492	3969	OMIM:608115	Ovarian hyperstimulation syndrome			50
HP:0012531	HP:0012531	Pain	0	FTL CL E G H	2512	3999	ORPHA:254704	Genetic hyperferritinemia without iron overload			33
HP:0012531	HP:0012531	Pain	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0012531	HP:0012531	Pain	0	FUS CL E G H	2521	4010	ORPHA:99967	Myxoid/round cell liposarcoma			105
HP:0012531	HP:0012531	Pain	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0012531	HP:0012531	Pain	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		6
HP:0012531	HP:0012531	Pain	0	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012531	HP:0012531	Pain	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0012531	HP:0012531	Pain	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0012531	HP:0012531	Pain	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0012531	HP:0012531	Pain	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0012531	HP:0012531	Pain	0	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia			1
HP:0012531	HP:0012531	Pain	0	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0012531	HP:0012531	Pain	0	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease			59
HP:0012531	HP:0012531	Pain	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia			56
HP:0012531	HP:0012531	Pain	0	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency			37
HP:0012531	HP:0012531	Pain	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0012531	HP:0012531	Pain	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0012531	HP:0012531	Pain	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0012531	HP:0012531	Pain	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease			291
HP:0012531	HP:0012531	Pain	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		45
HP:0012531	HP:0012531	Pain	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0012531	HP:0012531	Pain	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia			16
HP:0012531	HP:0012531	Pain	0	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma			16
HP:0012531	HP:0012531	Pain	0	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040283 - Occasional
HP:0012531	HP:0012531	Pain	0	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma			7
HP:0012531	HP:0012531	Pain	0	GNAS CL E G H	2778	4392	ORPHA:57782	Mazabraud syndrome			101
HP:0012531	HP:0012531	Pain	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0012531	HP:0012531	Pain	0	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia			101
HP:0012531	HP:0012531	Pain	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0012531	HP:0012531	Pain	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0012531	HP:0012531	Pain	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0012531	HP:0012531	Pain	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012531	HP:0012531	Pain	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0012531	HP:0012531	Pain	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma			57
HP:0012531	HP:0012531	Pain	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0012531	HP:0012531	Pain	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma			73
HP:0012531	HP:0012531	Pain	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0012531	HP:0012531	Pain	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0012531	HP:0012531	Pain	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0012531	HP:0012531	Pain	0	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0012531	HP:0012531	Pain	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0012531	HP:0012531	Pain	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0012531	HP:0012531	Pain	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0012531	HP:0012531	Pain	0	GUCY2C CL E G H	2984	4688	OMIM:614616	Diarrhea 6			12
HP:0012531	HP:0012531	Pain	0	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0012531	HP:0012531	Pain	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma			4
HP:0012531	HP:0012531	Pain	0	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional		58
HP:0012531	HP:0012531	Pain	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0012531	HP:0012531	Pain	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0012531	HP:0012531	Pain	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0012531	HP:0012531	Pain	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0012531	HP:0012531	Pain	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040283 - Occasional
HP:0012531	HP:0012531	Pain	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0012531	HP:0012531	Pain	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0012531	HP:0012531	Pain	0	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0012531	HP:0012531	Pain	0	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0012531	HP:0012531	Pain	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040281 - Very frequent		580
HP:0012531	HP:0012531	Pain	0	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0012531	HP:0012531	Pain	0	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0012531	HP:0012531	Pain	0	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0012531	HP:0012531	Pain	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0012531	HP:0012531	Pain	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0012531	HP:0012531	Pain	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0012531	HP:0012531	Pain	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0012531	HP:0012531	Pain	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0012531	HP:0012531	Pain	0	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata			38
HP:0012531	HP:0012531	Pain	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0012531	HP:0012531	Pain	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria			77
HP:0012531	HP:0012531	Pain	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria			77
HP:0012531	HP:0012531	Pain	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0012531	HP:0012531	Pain	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0012531	HP:0012531	Pain	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0012531	HP:0012531	Pain	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0012531	HP:0012531	Pain	0	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1			4
HP:0012531	HP:0012531	Pain	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0012531	HP:0012531	Pain	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0012531	HP:0012531	Pain	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0012531	HP:0012531	Pain	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0012531	HP:0012531	Pain	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0012531	HP:0012531	Pain	0	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia
HP:0012531	HP:0012531	Pain	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0012531	HP:0012531	Pain	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia
HP:0012531	HP:0012531	Pain	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis			2
HP:0012531	HP:0012531	Pain	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis			2
HP:0012531	HP:0012531	Pain	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0012531	HP:0012531	Pain	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0012531	HP:0012531	Pain	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0012531	HP:0012531	Pain	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0012531	HP:0012531	Pain	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0012531	HP:0012531	Pain	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent			81
HP:0012531	HP:0012531	Pain	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0012531	HP:0012531	Pain	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:0012531	HP:0012531	Pain	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0012531	HP:0012531	Pain	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0012531	HP:0012531	Pain	0	HOGA1 CL E G H	112817	25155	ORPHA:93600	Primary hyperoxaluria type 3	HP:0040281 - Very frequent		83
HP:0012531	HP:0012531	Pain	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0012531	HP:0012531	Pain	0	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy			55
HP:0012531	HP:0012531	Pain	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1			55
HP:0012531	HP:0012531	Pain	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0012531	HP:0012531	Pain	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0012531	HP:0012531	Pain	0	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0012531	HP:0012531	Pain	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0012531	HP:0012531	Pain	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0012531	HP:0012531	Pain	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0012531	HP:0012531	Pain	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0012531	HP:0012531	Pain	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0012531	HP:0012531	Pain	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome			15
HP:0012531	HP:0012531	Pain	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease			15
HP:0012531	HP:0012531	Pain	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome			29
HP:0012531	HP:0012531	Pain	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease			29
HP:0012531	HP:0012531	Pain	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0012531	HP:0012531	Pain	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0012531	HP:0012531	Pain	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		148
HP:0012531	HP:0012531	Pain	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma			7
HP:0012531	HP:0012531	Pain	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0012531	HP:0012531	Pain	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0012531	HP:0012531	Pain	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0012531	HP:0012531	Pain	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0012531	HP:0012531	Pain	0	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0012531	HP:0012531	Pain	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0012531	HP:0012531	Pain	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0012531	HP:0012531	Pain	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0012531	HP:0012531	Pain	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0012531	HP:0012531	Pain	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0012531	HP:0012531	Pain	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0012531	HP:0012531	Pain	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012531	HP:0012531	Pain	0	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease			2
HP:0012531	HP:0012531	Pain	0	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0012531	HP:0012531	Pain	0	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			135
HP:0012531	HP:0012531	Pain	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0012531	HP:0012531	Pain	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0012531	HP:0012531	Pain	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0012531	HP:0012531	Pain	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0012531	HP:0012531	Pain	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis			4
HP:0012531	HP:0012531	Pain	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0012531	HP:0012531	Pain	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia			57
HP:0012531	HP:0012531	Pain	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0012531	HP:0012531	Pain	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0012531	HP:0012531	Pain	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis			57
HP:0012531	HP:0012531	Pain	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0012531	HP:0012531	Pain	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0012531	HP:0012531	Pain	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0012531	HP:0012531	Pain	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0012531	HP:0012531	Pain	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type			167
HP:0012531	HP:0012531	Pain	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0012531	HP:0012531	Pain	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0012531	HP:0012531	Pain	0	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0012531	HP:0012531	Pain	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0012531	HP:0012531	Pain	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0012531	HP:0012531	Pain	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0012531	HP:0012531	Pain	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0012531	HP:0012531	Pain	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0012531	HP:0012531	Pain	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0012531	HP:0012531	Pain	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0012531	HP:0012531	Pain	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0012531	HP:0012531	Pain	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0012531	HP:0012531	Pain	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent		3
HP:0012531	HP:0012531	Pain	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0012531	HP:0012531	Pain	0	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0012531	HP:0012531	Pain	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome			70
HP:0012531	HP:0012531	Pain	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency			35
HP:0012531	HP:0012531	Pain	0	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI			35
HP:0012531	HP:0012531	Pain	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia			2157
HP:0012531	HP:0012531	Pain	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia			73
HP:0012531	HP:0012531	Pain	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0012531	HP:0012531	Pain	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0012531	HP:0012531	Pain	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0012531	HP:0012531	Pain	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0012531	HP:0012531	Pain	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0012531	HP:0012531	Pain	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0012531	HP:0012531	Pain	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0012531	HP:0012531	Pain	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0012531	HP:0012531	Pain	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0012531	HP:0012531	Pain	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0012531	HP:0012531	Pain	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0012531	HP:0012531	Pain	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0012531	HP:0012531	Pain	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0012531	HP:0012531	Pain	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0012531	HP:0012531	Pain	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0012531	HP:0012531	Pain	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0012531	HP:0012531	Pain	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			6
HP:0012531	HP:0012531	Pain	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0012531	HP:0012531	Pain	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent			95
HP:0012531	HP:0012531	Pain	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0012531	HP:0012531	Pain	0	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0012531	HP:0012531	Pain	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0012531	HP:0012531	Pain	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040283 - Occasional		4
HP:0012531	HP:0012531	Pain	0	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease			125
HP:0012531	HP:0012531	Pain	0	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0012531	HP:0012531	Pain	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0012531	HP:0012531	Pain	0	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			59
HP:0012531	HP:0012531	Pain	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma			6
HP:0012531	HP:0012531	Pain	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			13
HP:0012531	HP:0012531	Pain	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0012531	HP:0012531	Pain	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0012531	HP:0012531	Pain	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		80
HP:0012531	HP:0012531	Pain	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0012531	HP:0012531	Pain	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0012531	HP:0012531	Pain	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0012531	HP:0012531	Pain	0	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE			5
HP:0012531	HP:0012531	Pain	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0012531	HP:0012531	Pain	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0012531	HP:0012531	Pain	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0012531	HP:0012531	Pain	0	MEF2A CL E G H	4205	6993	OMIM:608320	Coronary artery disease, autosomal dominant, 1			5
HP:0012531	HP:0012531	Pain	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0012531	HP:0012531	Pain	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever			281
HP:0012531	HP:0012531	Pain	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0012531	HP:0012531	Pain	0	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT			281
HP:0012531	HP:0012531	Pain	0	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis			281
HP:0012531	HP:0012531	Pain	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0012531	HP:0012531	Pain	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040281 - Very frequent		281
HP:0012531	HP:0012531	Pain	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0012531	HP:0012531	Pain	0	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0012531	HP:0012531	Pain	0	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma			375
HP:0012531	HP:0012531	Pain	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0012531	HP:0012531	Pain	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			11
HP:0012531	HP:0012531	Pain	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0012531	HP:0012531	Pain	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.		203
HP:0012531	HP:0012531	Pain	0	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis			203
HP:0012531	HP:0012531	Pain	0	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0012531	HP:0012531	Pain	0	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0012531	HP:0012531	Pain	0	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional		3
HP:0012531	HP:0012531	Pain	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome			91
HP:0012531	HP:0012531	Pain	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0012531	HP:0012531	Pain	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0012531	HP:0012531	Pain	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0012531	HP:0012531	Pain	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0012531	HP:0012531	Pain	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0012531	HP:0012531	Pain	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0012531	HP:0012531	Pain	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0012531	HP:0012531	Pain	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040282 - Frequent		18
HP:0012531	HP:0012531	Pain	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0012531	HP:0012531	Pain	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0012531	HP:0012531	Pain	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0012531	HP:0012531	Pain	0	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II			4
HP:0012531	HP:0012531	Pain	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia			97
HP:0012531	HP:0012531	Pain	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0012531	HP:0012531	Pain	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0012531	HP:0012531	Pain	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis			97
HP:0012531	HP:0012531	Pain	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0012531	HP:0012531	Pain	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0012531	HP:0012531	Pain	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0012531	HP:0012531	Pain	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0012531	HP:0012531	Pain	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0012531	HP:0012531	Pain	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0012531	HP:0012531	Pain	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0012531	HP:0012531	Pain	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0012531	HP:0012531	Pain	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0012531	HP:0012531	Pain	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0012531	HP:0012531	Pain	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0012531	HP:0012531	Pain	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0012531	HP:0012531	Pain	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0012531	HP:0012531	Pain	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever			150
HP:0012531	HP:0012531	Pain	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0012531	HP:0012531	Pain	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0012531	HP:0012531	Pain	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma			11
HP:0012531	HP:0012531	Pain	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0012531	HP:0012531	Pain	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection			418
HP:0012531	HP:0012531	Pain	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			418
HP:0012531	HP:0012531	Pain	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0012531	HP:0012531	Pain	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve			1269
HP:0012531	HP:0012531	Pain	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy			1269
HP:0012531	HP:0012531	Pain	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0012531	HP:0012531	Pain	0	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0012531	HP:0012531	Pain	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			326
HP:0012531	HP:0012531	Pain	0	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0012531	HP:0012531	Pain	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY			75
HP:0012531	HP:0012531	Pain	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0012531	HP:0012531	Pain	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0012531	HP:0012531	Pain	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0012531	HP:0012531	Pain	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0012531	HP:0012531	Pain	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		24
HP:0012531	HP:0012531	Pain	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		101
HP:0012531	HP:0012531	Pain	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0012531	HP:0012531	Pain	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0012531	HP:0012531	Pain	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0012531	HP:0012531	Pain	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0012531	HP:0012531	Pain	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0012531	HP:0012531	Pain	0	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA			1
HP:0012531	HP:0012531	Pain	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0012531	HP:0012531	Pain	0	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect			90
HP:0012531	HP:0012531	Pain	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0012531	HP:0012531	Pain	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0012531	HP:0012531	Pain	0	NLRC4 CL E G H	58484	16412	OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4			30
HP:0012531	HP:0012531	Pain	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0012531	HP:0012531	Pain	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0012531	HP:0012531	Pain	0	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation			217
HP:0012531	HP:0012531	Pain	0	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0012531	HP:0012531	Pain	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria			217
HP:0012531	HP:0012531	Pain	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0012531	HP:0012531	Pain	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0012531	HP:0012531	Pain	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0012531	HP:0012531	Pain	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0012531	HP:0012531	Pain	0	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease			187
HP:0012531	HP:0012531	Pain	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0012531	HP:0012531	Pain	0	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia			2
HP:0012531	HP:0012531	Pain	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0012531	HP:0012531	Pain	0	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			241
HP:0012531	HP:0012531	Pain	0	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			69
HP:0012531	HP:0012531	Pain	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0012531	HP:0012531	Pain	0	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional		4
HP:0012531	HP:0012531	Pain	0	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional		7
HP:0012531	HP:0012531	Pain	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0012531	HP:0012531	Pain	0	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease			4
HP:0012531	HP:0012531	Pain	0	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements
HP:0012531	HP:0012531	Pain	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0012531	HP:0012531	Pain	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0012531	HP:0012531	Pain	0	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0012531	HP:0012531	Pain	0	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0012531	HP:0012531	Pain	0	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012531	HP:0012531	Pain	0	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0012531	HP:0012531	Pain	0	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012531	HP:0012531	Pain	0	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012531	HP:0012531	Pain	0	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0012531	HP:0012531	Pain	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0012531	HP:0012531	Pain	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040282 - Frequent		163
HP:0012531	HP:0012531	Pain	0	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency			5
HP:0012531	HP:0012531	Pain	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0012531	HP:0012531	Pain	0	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy			19
HP:0012531	HP:0012531	Pain	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0012531	HP:0012531	Pain	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0012531	HP:0012531	Pain	0	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0012531	HP:0012531	Pain	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0012531	HP:0012531	Pain	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0012531	HP:0012531	Pain	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0012531	HP:0012531	Pain	0	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			39
HP:0012531	HP:0012531	Pain	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia			178
HP:0012531	HP:0012531	Pain	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0012531	HP:0012531	Pain	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic			337
HP:0012531	HP:0012531	Pain	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0012531	HP:0012531	Pain	0	PGAM2 CL E G H	5224	8889	OMIM:261670	Phosphoglycerate mutase, muscle, deficiency of			26
HP:0012531	HP:0012531	Pain	0	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0012531	HP:0012531	Pain	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0012531	HP:0012531	Pain	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0012531	HP:0012531	Pain	0	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked			54
HP:0012531	HP:0012531	Pain	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0012531	HP:0012531	Pain	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012531	HP:0012531	Pain	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0012531	HP:0012531	Pain	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0012531	HP:0012531	Pain	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0012531	HP:0012531	Pain	0	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2			12
HP:0012531	HP:0012531	Pain	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0012531	HP:0012531	Pain	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0012531	HP:0012531	Pain	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0012531	HP:0012531	Pain	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0012531	HP:0012531	Pain	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		342
HP:0012531	HP:0012531	Pain	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		106
HP:0012531	HP:0012531	Pain	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0012531	HP:0012531	Pain	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0012531	HP:0012531	Pain	0	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			118
HP:0012531	HP:0012531	Pain	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated			21
HP:0012531	HP:0012531	Pain	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0012531	HP:0012531	Pain	0	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18			57
HP:0012531	HP:0012531	Pain	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0012531	HP:0012531	Pain	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A			79
HP:0012531	HP:0012531	Pain	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0012531	HP:0012531	Pain	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0012531	HP:0012531	Pain	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0012531	HP:0012531	Pain	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0012531	HP:0012531	Pain	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0012531	HP:0012531	Pain	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0012531	HP:0012531	Pain	0	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature			1129
HP:0012531	HP:0012531	Pain	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0012531	HP:0012531	Pain	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0012531	HP:0012531	Pain	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0012531	HP:0012531	Pain	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0012531	HP:0012531	Pain	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0012531	HP:0012531	Pain	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0012531	HP:0012531	Pain	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0012531	HP:0012531	Pain	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0012531	HP:0012531	Pain	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0012531	HP:0012531	Pain	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			213
HP:0012531	HP:0012531	Pain	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0012531	HP:0012531	Pain	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0012531	HP:0012531	Pain	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		2
HP:0012531	HP:0012531	Pain	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0012531	HP:0012531	Pain	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0012531	HP:0012531	Pain	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma			2
HP:0012531	HP:0012531	Pain	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0012531	HP:0012531	Pain	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0012531	HP:0012531	Pain	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0012531	HP:0012531	Pain	0	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata			41
HP:0012531	HP:0012531	Pain	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0012531	HP:0012531	Pain	0	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2			58
HP:0012531	HP:0012531	Pain	0	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6			235
HP:0012531	HP:0012531	Pain	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0012531	HP:0012531	Pain	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma			134
HP:0012531	HP:0012531	Pain	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0012531	HP:0012531	Pain	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0012531	HP:0012531	Pain	0	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease			63
HP:0012531	HP:0012531	Pain	0	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts			63
HP:0012531	HP:0012531	Pain	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			41
HP:0012531	HP:0012531	Pain	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16			37
HP:0012531	HP:0012531	Pain	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16			37
HP:0012531	HP:0012531	Pain	0	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease			69
HP:0012531	HP:0012531	Pain	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0012531	HP:0012531	Pain	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0012531	HP:0012531	Pain	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		25
HP:0012531	HP:0012531	Pain	0	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis			51
HP:0012531	HP:0012531	Pain	0	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary			51
HP:0012531	HP:0012531	Pain	0	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis			1
HP:0012531	HP:0012531	Pain	0	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary			1
HP:0012531	HP:0012531	Pain	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0012531	HP:0012531	Pain	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0012531	HP:0012531	Pain	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0012531	HP:0012531	Pain	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0012531	HP:0012531	Pain	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0012531	HP:0012531	Pain	0	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome			96
HP:0012531	HP:0012531	Pain	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0012531	HP:0012531	Pain	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome			58
HP:0012531	HP:0012531	Pain	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease			58
HP:0012531	HP:0012531	Pain	0	PTPN11 CL E G H	5781	9644	ORPHA:2499	Metachondromatosis			291
HP:0012531	HP:0012531	Pain	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012531	HP:0012531	Pain	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0012531	HP:0012531	Pain	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0012531	HP:0012531	Pain	0	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0012531	HP:0012531	Pain	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0012531	HP:0012531	Pain	0	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma			1
HP:0012531	HP:0012531	Pain	0	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			2
HP:0012531	HP:0012531	Pain	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency			166
HP:0012531	HP:0012531	Pain	0	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V			166
HP:0012531	HP:0012531	Pain	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0012531	HP:0012531	Pain	0	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome			25
HP:0012531	HP:0012531	Pain	0	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements			9
HP:0012531	HP:0012531	Pain	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0012531	HP:0012531	Pain	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional		88
HP:0012531	HP:0012531	Pain	0	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent		365
HP:0012531	HP:0012531	Pain	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0012531	HP:0012531	Pain	0	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72	HP:0040283 - Occasional		3
HP:0012531	HP:0012531	Pain	0	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma	HP:0040282 - Frequent		1
HP:0012531	HP:0012531	Pain	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma			7
HP:0012531	HP:0012531	Pain	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0012531	HP:0012531	Pain	0	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease			572
HP:0012531	HP:0012531	Pain	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA			572
HP:0012531	HP:0012531	Pain	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0012531	HP:0012531	Pain	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0012531	HP:0012531	Pain	0	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0012531	HP:0012531	Pain	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0012531	HP:0012531	Pain	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2			3
HP:0012531	HP:0012531	Pain	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0012531	HP:0012531	Pain	0	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus			3
HP:0012531	HP:0012531	Pain	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome			15
HP:0012531	HP:0012531	Pain	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0012531	HP:0012531	Pain	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0012531	HP:0012531	Pain	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0012531	HP:0012531	Pain	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0012531	HP:0012531	Pain	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0012531	HP:0012531	Pain	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0012531	HP:0012531	Pain	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0012531	HP:0012531	Pain	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0012531	HP:0012531	Pain	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0012531	HP:0012531	Pain	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis			2
HP:0012531	HP:0012531	Pain	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0012531	HP:0012531	Pain	0	SCN11A CL E G H	11280	10583	OMIM:615552	Episodic pain syndrome, familial, 3	.		19
HP:0012531	HP:0012531	Pain	0	SCN1B CL E G H	6324	10586	ORPHA:871	Familial progressive cardiac conduction defect			126
HP:0012531	HP:0012531	Pain	0	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia			263
HP:0012531	HP:0012531	Pain	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis			263
HP:0012531	HP:0012531	Pain	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans			263
HP:0012531	HP:0012531	Pain	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens			263
HP:0012531	HP:0012531	Pain	0	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated			263
HP:0012531	HP:0012531	Pain	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg			263
HP:0012531	HP:0012531	Pain	0	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg			263
HP:0012531	HP:0012531	Pain	0	SCN5A CL E G H	6331	10593	ORPHA:871	Familial progressive cardiac conduction defect			1134
HP:0012531	HP:0012531	Pain	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.		318
HP:0012531	HP:0012531	Pain	0	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder			318
HP:0012531	HP:0012531	Pain	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis			67
HP:0012531	HP:0012531	Pain	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis			61
HP:0012531	HP:0012531	Pain	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis			57
HP:0012531	HP:0012531	Pain	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0012531	HP:0012531	Pain	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0012531	HP:0012531	Pain	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0012531	HP:0012531	Pain	0	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome			237
HP:0012531	HP:0012531	Pain	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0012531	HP:0012531	Pain	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0012531	HP:0012531	Pain	0	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome			147
HP:0012531	HP:0012531	Pain	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0012531	HP:0012531	Pain	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome			129
HP:0012531	HP:0012531	Pain	0	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome			129
HP:0012531	HP:0012531	Pain	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0012531	HP:0012531	Pain	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0012531	HP:0012531	Pain	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0012531	HP:0012531	Pain	0	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease			137
HP:0012531	HP:0012531	Pain	0	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease			1
HP:0012531	HP:0012531	Pain	0	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease			2
HP:0012531	HP:0012531	Pain	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0012531	HP:0012531	Pain	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0012531	HP:0012531	Pain	0	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy
HP:0012531	HP:0012531	Pain	0	SERPINF2 CL E G H	5345	9075	ORPHA:79	Congenital alpha2-antiplasmin deficiency			8
HP:0012531	HP:0012531	Pain	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1			64
HP:0012531	HP:0012531	Pain	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1			64
HP:0012531	HP:0012531	Pain	0	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma			19
HP:0012531	HP:0012531	Pain	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease			3
HP:0012531	HP:0012531	Pain	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia			4
HP:0012531	HP:0012531	Pain	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0012531	HP:0012531	Pain	0	SI CL E G H	6476	10856	ORPHA:35122	Congenital sucrase-isomaltase deficiency			98
HP:0012531	HP:0012531	Pain	0	SI CL E G H	6476	10856	OMIM:222900	Sucrase-isomaltase deficiency, congenital			98
HP:0012531	HP:0012531	Pain	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0012531	HP:0012531	Pain	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0012531	HP:0012531	Pain	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia			56
HP:0012531	HP:0012531	Pain	0	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0012531	HP:0012531	Pain	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0012531	HP:0012531	Pain	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0012531	HP:0012531	Pain	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0012531	HP:0012531	Pain	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0012531	HP:0012531	Pain	0	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4			166
HP:0012531	HP:0012531	Pain	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0012531	HP:0012531	Pain	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia			57
HP:0012531	HP:0012531	Pain	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			47
HP:0012531	HP:0012531	Pain	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0012531	HP:0012531	Pain	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0012531	HP:0012531	Pain	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			52
HP:0012531	HP:0012531	Pain	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0012531	HP:0012531	Pain	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0012531	HP:0012531	Pain	0	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4			56
HP:0012531	HP:0012531	Pain	0	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0012531	HP:0012531	Pain	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0012531	HP:0012531	Pain	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0012531	HP:0012531	Pain	0	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0012531	HP:0012531	Pain	0	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant			13
HP:0012531	HP:0012531	Pain	0	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2			13
HP:0012531	HP:0012531	Pain	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0012531	HP:0012531	Pain	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			7
HP:0012531	HP:0012531	Pain	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0012531	HP:0012531	Pain	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			260
HP:0012531	HP:0012531	Pain	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0012531	HP:0012531	Pain	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			504
HP:0012531	HP:0012531	Pain	0	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome			504
HP:0012531	HP:0012531	Pain	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0012531	HP:0012531	Pain	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0012531	HP:0012531	Pain	0	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease			22
HP:0012531	HP:0012531	Pain	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0012531	HP:0012531	Pain	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0012531	HP:0012531	Pain	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0012531	HP:0012531	Pain	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		53
HP:0012531	HP:0012531	Pain	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0012531	HP:0012531	Pain	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0012531	HP:0012531	Pain	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome			61
HP:0012531	HP:0012531	Pain	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0012531	HP:0012531	Pain	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7			171
HP:0012531	HP:0012531	Pain	0	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis			34
HP:0012531	HP:0012531	Pain	0	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary			34
HP:0012531	HP:0012531	Pain	0	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis			34
HP:0012531	HP:0012531	Pain	0	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0012531	HP:0012531	Pain	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0012531	HP:0012531	Pain	0	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0012531	HP:0012531	Pain	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0012531	HP:0012531	Pain	0	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0012531	HP:0012531	Pain	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0012531	HP:0012531	Pain	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012531	HP:0012531	Pain	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			54
HP:0012531	HP:0012531	Pain	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			149
HP:0012531	HP:0012531	Pain	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0012531	HP:0012531	Pain	0	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3			62
HP:0012531	HP:0012531	Pain	0	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease			1
HP:0012531	HP:0012531	Pain	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0012531	HP:0012531	Pain	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0012531	HP:0012531	Pain	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0012531	HP:0012531	Pain	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0012531	HP:0012531	Pain	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0012531	HP:0012531	Pain	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0012531	HP:0012531	Pain	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0012531	HP:0012531	Pain	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0012531	HP:0012531	Pain	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0012531	HP:0012531	Pain	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0012531	HP:0012531	Pain	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0012531	HP:0012531	Pain	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome			31
HP:0012531	HP:0012531	Pain	0	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy			31
HP:0012531	HP:0012531	Pain	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0012531	HP:0012531	Pain	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome			740
HP:0012531	HP:0012531	Pain	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome			740
HP:0012531	HP:0012531	Pain	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0012531	HP:0012531	Pain	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0012531	HP:0012531	Pain	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0012531	HP:0012531	Pain	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0012531	HP:0012531	Pain	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0012531	HP:0012531	Pain	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0012531	HP:0012531	Pain	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0012531	HP:0012531	Pain	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0012531	HP:0012531	Pain	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0012531	HP:0012531	Pain	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		65
HP:0012531	HP:0012531	Pain	0	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0012531	HP:0012531	Pain	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0012531	HP:0012531	Pain	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0012531	HP:0012531	Pain	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0012531	HP:0012531	Pain	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0012531	HP:0012531	Pain	0	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2			5
HP:0012531	HP:0012531	Pain	0	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5			19
HP:0012531	HP:0012531	Pain	0	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0012531	HP:0012531	Pain	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0012531	HP:0012531	Pain	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia			82
HP:0012531	HP:0012531	Pain	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0012531	HP:0012531	Pain	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0012531	HP:0012531	Pain	0	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus			78
HP:0012531	HP:0012531	Pain	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma			238
HP:0012531	HP:0012531	Pain	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0012531	HP:0012531	Pain	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0012531	HP:0012531	Pain	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia			3
HP:0012531	HP:0012531	Pain	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0012531	HP:0012531	Pain	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis			3
HP:0012531	HP:0012531	Pain	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0012531	HP:0012531	Pain	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0012531	HP:0012531	Pain	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0012531	HP:0012531	Pain	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			162
HP:0012531	HP:0012531	Pain	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0012531	HP:0012531	Pain	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			85
HP:0012531	HP:0012531	Pain	0	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I			58
HP:0012531	HP:0012531	Pain	0	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0012531	HP:0012531	Pain	0	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy			58
HP:0012531	HP:0012531	Pain	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			239
HP:0012531	HP:0012531	Pain	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			253
HP:0012531	HP:0012531	Pain	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0012531	HP:0012531	Pain	0	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus			253
HP:0012531	HP:0012531	Pain	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0012531	HP:0012531	Pain	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0012531	HP:0012531	Pain	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0012531	HP:0012531	Pain	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0012531	HP:0012531	Pain	0	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29			4
HP:0012531	HP:0012531	Pain	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0012531	HP:0012531	Pain	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0012531	HP:0012531	Pain	0	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5			171
HP:0012531	HP:0012531	Pain	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0012531	HP:0012531	Pain	0	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis			72
HP:0012531	HP:0012531	Pain	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0012531	HP:0012531	Pain	0	TNFRSF11B CL E G H	4982	11909	ORPHA:1416	Familial calcium pyrophosphate deposition			44
HP:0012531	HP:0012531	Pain	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0012531	HP:0012531	Pain	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0012531	HP:0012531	Pain	0	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis			131
HP:0012531	HP:0012531	Pain	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0012531	HP:0012531	Pain	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0012531	HP:0012531	Pain	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0012531	HP:0012531	Pain	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0012531	HP:0012531	Pain	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13			73
HP:0012531	HP:0012531	Pain	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1			134
HP:0012531	HP:0012531	Pain	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like			134
HP:0012531	HP:0012531	Pain	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0012531	HP:0012531	Pain	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma			911
HP:0012531	HP:0012531	Pain	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia			911
HP:0012531	HP:0012531	Pain	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0012531	HP:0012531	Pain	0	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent		911
HP:0012531	HP:0012531	Pain	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0012531	HP:0012531	Pain	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome			27
HP:0012531	HP:0012531	Pain	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0012531	HP:0012531	Pain	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0012531	HP:0012531	Pain	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0012531	HP:0012531	Pain	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked			46
HP:0012531	HP:0012531	Pain	0	TREH CL E G H	11181	12266	ORPHA:103909	Trehalase deficiency			2
HP:0012531	HP:0012531	Pain	0	TREH CL E G H	11181	12266	OMIM:612119	Trehalase deficiency			2
HP:0012531	HP:0012531	Pain	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0012531	HP:0012531	Pain	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0012531	HP:0012531	Pain	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0012531	HP:0012531	Pain	0	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1			56
HP:0012531	HP:0012531	Pain	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0012531	HP:0012531	Pain	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma			2
HP:0012531	HP:0012531	Pain	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H			108
HP:0012531	HP:0012531	Pain	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma			2
HP:0012531	HP:0012531	Pain	0	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0012531	HP:0012531	Pain	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0012531	HP:0012531	Pain	0	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0012531	HP:0012531	Pain	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0012531	HP:0012531	Pain	0	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0012531	HP:0012531	Pain	0	TRPA1 CL E G H	8989	497	OMIM:615040	Episodic pain syndrome, familial, 1	.		1
HP:0012531	HP:0012531	Pain	0	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			107
HP:0012531	HP:0012531	Pain	0	TRPM4 CL E G H	54795	17993	ORPHA:871	Familial progressive cardiac conduction defect			124
HP:0012531	HP:0012531	Pain	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0012531	HP:0012531	Pain	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0012531	HP:0012531	Pain	0	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head			214
HP:0012531	HP:0012531	Pain	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0012531	HP:0012531	Pain	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0012531	HP:0012531	Pain	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0012531	HP:0012531	Pain	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0012531	HP:0012531	Pain	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0012531	HP:0012531	Pain	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0012531	HP:0012531	Pain	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0012531	HP:0012531	Pain	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0012531	HP:0012531	Pain	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0012531	HP:0012531	Pain	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0012531	HP:0012531	Pain	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0012531	HP:0012531	Pain	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0012531	HP:0012531	Pain	0	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0012531	HP:0012531	Pain	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0012531	HP:0012531	Pain	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0012531	HP:0012531	Pain	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele			111
HP:0012531	HP:0012531	Pain	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		116
HP:0012531	HP:0012531	Pain	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation			63
HP:0012531	HP:0012531	Pain	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		63
HP:0012531	HP:0012531	Pain	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:0012531	HP:0012531	Pain	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0012531	HP:0012531	Pain	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome			63
HP:0012531	HP:0012531	Pain	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0012531	HP:0012531	Pain	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0012531	HP:0012531	Pain	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0012531	HP:0012531	Pain	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0012531	HP:0012531	Pain	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0012531	HP:0012531	Pain	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0012531	HP:0012531	Pain	0	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0012531	HP:0012531	Pain	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0012531	HP:0012531	Pain	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0012531	HP:0012531	Pain	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0012531	HP:0012531	Pain	0	WNT1 CL E G H	7471	12774	ORPHA:85193	Idiopathic juvenile osteoporosis			12
HP:0012531	HP:0012531	Pain	0	WNT3A CL E G H	89780	15983	ORPHA:85193	Idiopathic juvenile osteoporosis
HP:0012531	HP:0012531	Pain	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0012531	HP:0012531	Pain	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor			177
HP:0012531	HP:0012531	Pain	0	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			177
HP:0012531	HP:0012531	Pain	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma			177
HP:0012531	HP:0012531	Pain	0	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus			149
HP:0012531	HP:0012531	Pain	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0012531	HP:0012531	Pain	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0012531	HP:0012531	Pain	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0012531	HP:0012531	Pain	0	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0012531	HP:0012531	Pain	0	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0012531	HP:0012531	Pain	0	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma	HP:0040282 - Frequent
HP:0012531	HP:0012531	Pain	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0012531	HP:0012531	Pain	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0012531	HP:0012531	Pain	0	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6			2
HP:0012531	HP:0012531	Pain	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0012531	HP:0030943	Vulvodynia	1	CL E G H
HP:0012531	HP:0006649	Costochondral pain	1	CL E G H
HP:0012531	HP:0034267	Pelvic pain	1	CL E G H
HP:0012531	HP:0032171	Bladder pain	1	CL E G H
HP:0012531	HP:0034265	Mastalgia	1	CL E G H
HP:0012531	HP:0033839	Testicular pain	1	CL E G H
HP:0012531	HP:0030155	Scrotal pain	1	CL E G H
HP:0012531	HP:0002027	Abdominal pain	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040282 - Frequent		191
HP:0012531	HP:0002027	Abdominal pain	1	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		146
HP:0012531	HP:0002027	Abdominal pain	1	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		111
HP:0012531	HP:0002027	Abdominal pain	1	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0012531	HP:0002027	Abdominal pain	1	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040283 - Occasional		119
HP:0012531	HP:0002829	Arthralgia	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0012531	HP:0003418	Back pain	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional		135
HP:0012531	HP:0002027	Abdominal pain	1	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		135
HP:0012531	HP:0002829	Arthralgia	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		67
HP:0012531	HP:0002829	Arthralgia	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		76
HP:0012531	HP:0002829	Arthralgia	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.		76
HP:0012531	HP:0002027	Abdominal pain	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.		76
HP:0012531	HP:0003326	Myalgia	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent		98
HP:0012531	HP:0003326	Myalgia	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0012531	HP:0003326	Myalgia	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0012531	HP:0003326	Myalgia	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional		16
HP:0012531	HP:0009763	Limb pain	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0012531	HP:0100749	Chest pain	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		94
HP:0012531	HP:0100749	Chest pain	1	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0012531	HP:0002027	Abdominal pain	1	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.		23
HP:0012531	HP:0002027	Abdominal pain	1	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		27
HP:0012531	HP:0003326	Myalgia	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0012531	HP:0002027	Abdominal pain	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0012531	HP:0002829	Arthralgia	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0012531	HP:0100749	Chest pain	1	ADAMTS19 CL E G H	171019	17111	OMIM:620067				1
HP:0012531	HP:0046506	Pain in head and neck region	1	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0012531	HP:0002653	Bone pain	1	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.		260
HP:0012531	HP:0002829	Arthralgia	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent		95
HP:0012531	HP:0046506	Pain in head and neck region	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0012531	HP:0003418	Back pain	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare		54
HP:0012531	HP:0033345	Neuralgia	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0012531	HP:0002027	Abdominal pain	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040282 - Frequent		62
HP:0012531	HP:0002027	Abdominal pain	1	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic			62
HP:0012531	HP:0009763	Limb pain	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0012531	HP:0003418	Back pain	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0012531	HP:0003326	Myalgia	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional		74
HP:0012531	HP:0002027	Abdominal pain	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional		74
HP:0012531	HP:0003326	Myalgia	1	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040282 - Frequent		50
HP:0012531	HP:0002027	Abdominal pain	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.		73
HP:0012531	HP:0002027	Abdominal pain	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040281 - Very frequent		73
HP:0012531	HP:0003326	Myalgia	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040284 - Very rare		404
HP:0012531	HP:0410019	Epigastric pain	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0012531	HP:0003326	Myalgia	1	AMPD1 CL E G H	270	468	ORPHA:45	Adenosine monophosphate deaminase deficiency	HP:0040281 - Very frequent		62
HP:0012531	HP:0003326	Myalgia	1	AMPD1 CL E G H	270	468	OMIM:615511	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD			62
HP:0012531	HP:0003326	Myalgia	1	AMPD3 CL E G H	272	470	ORPHA:45	Adenosine monophosphate deaminase deficiency	HP:0040281 - Very frequent		65
HP:0012531	HP:0003326	Myalgia	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		150
HP:0012531	HP:0002027	Abdominal pain	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		150
HP:0012531	HP:0002027	Abdominal pain	1	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012531	HP:0002829	Arthralgia	1	ANKH CL E G H	56172	15492	ORPHA:1416	Familial calcium pyrophosphate deposition	HP:0040281 - Very frequent		164
HP:0012531	HP:0003326	Myalgia	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0012531	HP:0002829	Arthralgia	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		6
HP:0012531	HP:0003326	Myalgia	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040281 - Very frequent		304
HP:0012531	HP:0003326	Myalgia	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.		304
HP:0012531	HP:0002829	Arthralgia	1	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0012531	HP:0003418	Back pain	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0012531	HP:0002653	Bone pain	1	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.		6
HP:0012531	HP:0100749	Chest pain	1	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional		3179
HP:0012531	HP:0002829	Arthralgia	1	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional		3179
HP:0012531	HP:0003326	Myalgia	1	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040282 - Frequent		3179
HP:0012531	HP:0002027	Abdominal pain	1	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040282 - Frequent		3179
HP:0012531	HP:0002027	Abdominal pain	1	APC CL E G H	324	583	OMIM:619182	GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS			3179
HP:0012531	HP:0002027	Abdominal pain	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional		3179
HP:0012531	HP:0002829	Arthralgia	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		356
HP:0012531	HP:0002027	Abdominal pain	1	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		3
HP:0012531	HP:0002027	Abdominal pain	1	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency			19
HP:0012531	HP:0030157	Flank pain	1	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional		19
HP:0012531	HP:0002027	Abdominal pain	1	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency			19
HP:0012531	HP:0002027	Abdominal pain	1	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		4
HP:0012531	HP:0002027	Abdominal pain	1	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		3
HP:0012531	HP:0002829	Arthralgia	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0012531	HP:0003326	Myalgia	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		1
HP:0012531	HP:0002829	Arthralgia	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent		78
HP:0012531	HP:0002829	Arthralgia	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0012531	HP:0002829	Arthralgia	1	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis	.		2
HP:0012531	HP:0002027	Abdominal pain	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		145
HP:0012531	HP:0002829	Arthralgia	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		145
HP:0012531	HP:0002653	Bone pain	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		145
HP:0012531	HP:0002653	Bone pain	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		145
HP:0012531	HP:0002027	Abdominal pain	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		145
HP:0012531	HP:0002829	Arthralgia	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		145
HP:0012531	HP:0003326	Myalgia	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		145
HP:0012531	HP:0009763	Limb pain	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		71
HP:0012531	HP:0009763	Limb pain	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		5
HP:0012531	HP:0009763	Limb pain	1	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0012531	HP:0002027	Abdominal pain	1	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		192
HP:0012531	HP:0002829	Arthralgia	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0012531	HP:0003418	Back pain	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0012531	HP:0002653	Bone pain	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0012531	HP:0002027	Abdominal pain	1	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		144
HP:0012531	HP:0032148	Episodic pain	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0012531	HP:0002027	Abdominal pain	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0012531	HP:0012532	Chronic pain	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.		14
HP:0012531	HP:0009763	Limb pain	1	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis			8
HP:0012531	HP:0030834	Shoulder pain	1	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional		8
HP:0012531	HP:0003418	Back pain	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare		184
HP:0012531	HP:0046506	Pain in head and neck region	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0012531	HP:0033345	Neuralgia	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0012531	HP:0100749	Chest pain	1	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma	HP:0040282 - Frequent		184
HP:0012531	HP:0046506	Pain in head and neck region	1	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma			184
HP:0012531	HP:0002829	Arthralgia	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012531	HP:0002027	Abdominal pain	1	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		18
HP:0012531	HP:0002829	Arthralgia	1	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0012531	HP:0002027	Abdominal pain	1	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0012531	HP:0002829	Arthralgia	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012531	HP:0002027	Abdominal pain	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		101
HP:0012531	HP:0002653	Bone pain	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		101
HP:0012531	HP:0003326	Myalgia	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0012531	HP:0002027	Abdominal pain	1	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional
HP:0012531	HP:0002027	Abdominal pain	1	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.		13
HP:0012531	HP:0002829	Arthralgia	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0012531	HP:0002027	Abdominal pain	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent		385
HP:0012531	HP:0002027	Abdominal pain	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent		385
HP:0012531	HP:0002027	Abdominal pain	1	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome			385
HP:0012531	HP:0002027	Abdominal pain	1	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma	HP:0040283 - Occasional		5769
HP:0012531	HP:0002027	Abdominal pain	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		5769
HP:0012531	HP:0003418	Back pain	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		5769
HP:0012531	HP:0002027	Abdominal pain	1	BRCA1 CL E G H	672	1100	ORPHA:168829	Primary peritoneal carcinoma	HP:0040281 - Very frequent		5769
HP:0012531	HP:0002027	Abdominal pain	1	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma	HP:0040283 - Occasional		7642
HP:0012531	HP:0003418	Back pain	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		7642
HP:0012531	HP:0002027	Abdominal pain	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		7642
HP:0012531	HP:0002027	Abdominal pain	1	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		7642
HP:0012531	HP:0009763	Limb pain	1	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17			105
HP:0012531	HP:0030838	Hip pain	1	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040283 - Occasional		105
HP:0012531	HP:0100749	Chest pain	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		1
HP:0012531	HP:0100749	Chest pain	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0012531	HP:0002027	Abdominal pain	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012531	HP:0002829	Arthralgia	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0012531	HP:0003326	Myalgia	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25	.		2
HP:0012531	HP:0002829	Arthralgia	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0012531	HP:0002829	Arthralgia	1	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	HP:0040283 - Occasional		7
HP:0012531	HP:0002027	Abdominal pain	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0012531	HP:0002829	Arthralgia	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0012531	HP:0003326	Myalgia	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		1
HP:0012531	HP:0100749	Chest pain	1	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		1
HP:0012531	HP:0030157	Flank pain	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		1
HP:0012531	HP:0003418	Back pain	1	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4	.		323
HP:0012531	HP:0003326	Myalgia	1	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4	.		323
HP:0012531	HP:0002027	Abdominal pain	1	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30			1
HP:0012531	HP:0002027	Abdominal pain	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.		118
HP:0012531	HP:0003326	Myalgia	1	CASQ1 CL E G H	844	1512	OMIM:616231	Myopathy, vacuolar, with CASQ1 aggregates	.		5
HP:0012531	HP:0003326	Myalgia	1	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent		5
HP:0012531	HP:0002027	Abdominal pain	1	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent		272
HP:0012531	HP:0002027	Abdominal pain	1	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		272
HP:0012531	HP:0002829	Arthralgia	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		11
HP:0012531	HP:0003326	Myalgia	1	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum			148
HP:0012531	HP:0003326	Myalgia	1	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040284 - Very rare		148
HP:0012531	HP:0100749	Chest pain	1	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9			148
HP:0012531	HP:0003326	Myalgia	1	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease			148
HP:0012531	HP:0003326	Myalgia	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0012531	HP:0002027	Abdominal pain	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		317
HP:0012531	HP:0002829	Arthralgia	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		317
HP:0012531	HP:0002653	Bone pain	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		317
HP:0012531	HP:0003326	Myalgia	1	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4	.		25
HP:0012531	HP:0002829	Arthralgia	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0012531	HP:0002829	Arthralgia	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0012531	HP:0002653	Bone pain	1	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040282 - Frequent		1
HP:0012531	HP:0009763	Limb pain	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0012531	HP:0002027	Abdominal pain	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0012531	HP:0003418	Back pain	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0012531	HP:0003326	Myalgia	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0012531	HP:0002027	Abdominal pain	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0012531	HP:0002829	Arthralgia	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0012531	HP:0002829	Arthralgia	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0012531	HP:0002829	Arthralgia	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		38
HP:0012531	HP:0002829	Arthralgia	1	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0012531	HP:0002829	Arthralgia	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		8
HP:0012531	HP:0003326	Myalgia	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		8
HP:0012531	HP:0002027	Abdominal pain	1	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		105
HP:0012531	HP:0030834	Shoulder pain	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		39
HP:0012531	HP:0003418	Back pain	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		39
HP:0012531	HP:0002027	Abdominal pain	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		39
HP:0012531	HP:0410019	Epigastric pain	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		39
HP:0012531	HP:0002027	Abdominal pain	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.		9
HP:0012531	HP:0002829	Arthralgia	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		1
HP:0012531	HP:0002829	Arthralgia	1	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0012531	HP:0002027	Abdominal pain	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0012531	HP:0032148	Episodic pain	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0012531	HP:0002653	Bone pain	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040283 - Occasional		169
HP:0012531	HP:0200025	Mandibular pain	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040283 - Occasional		169
HP:0012531	HP:0200025	Mandibular pain	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040283 - Occasional		169
HP:0012531	HP:0002653	Bone pain	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040283 - Occasional		169
HP:0012531	HP:0002027	Abdominal pain	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0012531	HP:0032148	Episodic pain	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0012531	HP:0100749	Chest pain	1	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0012531	HP:0002027	Abdominal pain	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		2
HP:0012531	HP:0002027	Abdominal pain	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		102
HP:0012531	HP:0002027	Abdominal pain	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0012531	HP:0032148	Episodic pain	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0012531	HP:0002027	Abdominal pain	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		289
HP:0012531	HP:0003418	Back pain	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		289
HP:0012531	HP:0002027	Abdominal pain	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		289
HP:0012531	HP:0002027	Abdominal pain	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain	.		3
HP:0012531	HP:0002027	Abdominal pain	1	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction	.		25
HP:0012531	HP:0003418	Back pain	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		86
HP:0012531	HP:0002027	Abdominal pain	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		86
HP:0012531	HP:0410019	Epigastric pain	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		86
HP:0012531	HP:0030834	Shoulder pain	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		86
HP:0012531	HP:0003418	Back pain	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		57
HP:0012531	HP:0030834	Shoulder pain	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		57
HP:0012531	HP:0002027	Abdominal pain	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		57
HP:0012531	HP:0410019	Epigastric pain	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		57
HP:0012531	HP:0002027	Abdominal pain	1	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		1371
HP:0012531	HP:0100749	Chest pain	1	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		1371
HP:0012531	HP:0002027	Abdominal pain	1	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.		1371
HP:0012531	HP:0003326	Myalgia	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0012531	HP:0002829	Arthralgia	1	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent		165
HP:0012531	HP:0002829	Arthralgia	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0012531	HP:0046506	Pain in head and neck region	1	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy			129
HP:0012531	HP:0002829	Arthralgia	1	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA			118
HP:0012531	HP:0003326	Myalgia	1	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant	HP:0040283 - Occasional		133
HP:0012531	HP:0003326	Myalgia	1	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive			133
HP:0012531	HP:0002653	Bone pain	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0012531	HP:0002653	Bone pain	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0012531	HP:0002653	Bone pain	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040281 - Very frequent		102
HP:0012531	HP:0002653	Bone pain	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0012531	HP:0003418	Back pain	1	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		102
HP:0012531	HP:0002829	Arthralgia	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0012531	HP:0003326	Myalgia	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0012531	HP:0002027	Abdominal pain	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040282 - Frequent		27
HP:0012531	HP:0002027	Abdominal pain	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.		58
HP:0012531	HP:0002027	Abdominal pain	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012531	HP:0002829	Arthralgia	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent		38
HP:0012531	HP:0003326	Myalgia	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.		1
HP:0012531	HP:0002829	Arthralgia	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040283 - Occasional		79
HP:0012531	HP:0002829	Arthralgia	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent		215
HP:0012531	HP:0002829	Arthralgia	1	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent		222
HP:0012531	HP:0002829	Arthralgia	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.		222
HP:0012531	HP:0002829	Arthralgia	1	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III			222
HP:0012531	HP:0046506	Pain in head and neck region	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0012531	HP:0009763	Limb pain	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0012531	HP:0002829	Arthralgia	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0012531	HP:0002829	Arthralgia	1	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent		284
HP:0012531	HP:0030838	Hip pain	1	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1			284
HP:0012531	HP:0031520	Groin pain	1	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1			284
HP:0012531	HP:0002829	Arthralgia	1	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.		284
HP:0012531	HP:0031520	Groin pain	1	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040281 - Very frequent		284
HP:0012531	HP:0030838	Hip pain	1	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent		284
HP:0012531	HP:0002829	Arthralgia	1	COL2A1 CL E G H	1280	2200	ORPHA:2380	Legg-Calvé-Perthes disease	HP:0040281 - Very frequent		284
HP:0012531	HP:0003418	Back pain	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0012531	HP:0009763	Limb pain	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0012531	HP:0030838	Hip pain	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040282 - Frequent		284
HP:0012531	HP:0009763	Limb pain	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0012531	HP:0003418	Back pain	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional		284
HP:0012531	HP:0002829	Arthralgia	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0012531	HP:0002829	Arthralgia	1	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	.		284
HP:0012531	HP:0009763	Limb pain	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		284
HP:0012531	HP:0002829	Arthralgia	1	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040282 - Frequent		284
HP:0012531	HP:0002829	Arthralgia	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0012531	HP:0100749	Chest pain	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0012531	HP:0002027	Abdominal pain	1	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		161
HP:0012531	HP:0100749	Chest pain	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		678
HP:0012531	HP:0002027	Abdominal pain	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0012531	HP:0100749	Chest pain	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		18
HP:0012531	HP:0002027	Abdominal pain	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0012531	HP:0002829	Arthralgia	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0012531	HP:0009763	Limb pain	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0012531	HP:0002829	Arthralgia	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0012531	HP:0009763	Limb pain	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0012531	HP:0012532	Chronic pain	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		263
HP:0012531	HP:0046506	Pain in head and neck region	1	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0012531	HP:0046506	Pain in head and neck region	1	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0012531	HP:0002829	Arthralgia	1	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6			110
HP:0012531	HP:0009763	Limb pain	1	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6			110
HP:0012531	HP:0009763	Limb pain	1	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0012531	HP:0009763	Limb pain	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0012531	HP:0009763	Limb pain	1	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0012531	HP:0009763	Limb pain	1	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0012531	HP:0009763	Limb pain	1	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			137
HP:0012531	HP:0009763	Limb pain	1	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2			89
HP:0012531	HP:0009763	Limb pain	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0012531	HP:0009763	Limb pain	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0012531	HP:0002829	Arthralgia	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0012531	HP:0002829	Arthralgia	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent		89
HP:0012531	HP:0003326	Myalgia	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		6
HP:0012531	HP:0002829	Arthralgia	1	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK			5
HP:0012531	HP:0002027	Abdominal pain	1	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		35
HP:0012531	HP:0002027	Abdominal pain	1	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		5
HP:0012531	HP:0003326	Myalgia	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012531	HP:0003326	Myalgia	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012531	HP:0003326	Myalgia	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0012531	HP:0002027	Abdominal pain	1	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		5
HP:0012531	HP:0002027	Abdominal pain	1	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0012531	HP:0002027	Abdominal pain	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040281 - Very frequent		72
HP:0012531	HP:0003418	Back pain	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional		72
HP:0012531	HP:0009763	Limb pain	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040282 - Frequent		72
HP:0012531	HP:0003326	Myalgia	1	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040281 - Very frequent		101
HP:0012531	HP:0002027	Abdominal pain	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0012531	HP:0032148	Episodic pain	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0012531	HP:0003326	Myalgia	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent		101
HP:0012531	HP:0003326	Myalgia	1	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	.		101
HP:0012531	HP:0002829	Arthralgia	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		10
HP:0012531	HP:0033050	Pharyngalgia	1	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7			10
HP:0012531	HP:0003326	Myalgia	1	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7			10
HP:0012531	HP:0002027	Abdominal pain	1	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		12
HP:0012531	HP:0100749	Chest pain	1	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent		24
HP:0012531	HP:0003326	Myalgia	1	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0012531	HP:0003326	Myalgia	1	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040283 - Occasional
HP:0012531	HP:0002027	Abdominal pain	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		10
HP:0012531	HP:0100749	Chest pain	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		10
HP:0012531	HP:0003326	Myalgia	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		10
HP:0012531	HP:0002829	Arthralgia	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		10
HP:0012531	HP:0002027	Abdominal pain	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		88
HP:0012531	HP:0002027	Abdominal pain	1	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040282 - Frequent		88
HP:0012531	HP:0002829	Arthralgia	1	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional		88
HP:0012531	HP:0003326	Myalgia	1	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040282 - Frequent		88
HP:0012531	HP:0100749	Chest pain	1	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional		88
HP:0012531	HP:0410019	Epigastric pain	1	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent		88
HP:0012531	HP:0002027	Abdominal pain	1	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent		88
HP:0012531	HP:0046506	Pain in head and neck region	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis			178
HP:0012531	HP:0002027	Abdominal pain	1	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		39
HP:0012531	HP:0002027	Abdominal pain	1	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.		39
HP:0012531	HP:0410019	Epigastric pain	1	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0012531	HP:0012532	Chronic pain	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0012531	HP:0002653	Bone pain	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent		60
HP:0012531	HP:0002653	Bone pain	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		41
HP:0012531	HP:0002653	Bone pain	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0012531	HP:0002653	Bone pain	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		5
HP:0012531	HP:0002653	Bone pain	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.		5
HP:0012531	HP:0046506	Pain in head and neck region	1	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma			1
HP:0012531	HP:0002027	Abdominal pain	1	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012531	HP:0032148	Episodic pain	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0012531	HP:0002027	Abdominal pain	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0012531	HP:0100749	Chest pain	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040283 - Occasional		80
HP:0012531	HP:0003326	Myalgia	1	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional		36
HP:0012531	HP:0002829	Arthralgia	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		30
HP:0012531	HP:0002027	Abdominal pain	1	DDIT3 CL E G H	1649	2726	ORPHA:99967	Myxoid/round cell liposarcoma	HP:0040283 - Occasional
HP:0012531	HP:0002829	Arthralgia	1	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type			9
HP:0012531	HP:0003326	Myalgia	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:0012531	HP:0002027	Abdominal pain	1	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		164
HP:0012531	HP:0046506	Pain in head and neck region	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0012531	HP:0002653	Bone pain	1	DKK1 CL E G H	22943	2891	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040281 - Very frequent
HP:0012531	HP:0100749	Chest pain	1	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040282 - Frequent
HP:0012531	HP:0003418	Back pain	1	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0012531	HP:0002027	Abdominal pain	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0012531	HP:0032148	Episodic pain	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0012531	HP:0100749	Chest pain	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0012531	HP:0003326	Myalgia	1	DMD CL E G H	1756	2928	ORPHA:98895	Becker muscular dystrophy	HP:0040281 - Very frequent		1496
HP:0012531	HP:0003326	Myalgia	1	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type	.		1496
HP:0012531	HP:0003326	Myalgia	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0012531	HP:0002653	Bone pain	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		48
HP:0012531	HP:0002027	Abdominal pain	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0012531	HP:0003326	Myalgia	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent		41
HP:0012531	HP:0003326	Myalgia	1	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.		41
HP:0012531	HP:0003326	Myalgia	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E			103
HP:0012531	HP:0002829	Arthralgia	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012531	HP:0003326	Myalgia	1	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional		2
HP:0012531	HP:0002027	Abdominal pain	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040282 - Frequent		3
HP:0012531	HP:0003326	Myalgia	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional		3
HP:0012531	HP:0003326	Myalgia	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		94
HP:0012531	HP:0003326	Myalgia	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0012531	HP:0032148	Episodic pain	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0012531	HP:0100749	Chest pain	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		44
HP:0012531	HP:0002027	Abdominal pain	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0012531	HP:0100749	Chest pain	1	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent		9
HP:0012531	HP:0003326	Myalgia	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.		13
HP:0012531	HP:0002829	Arthralgia	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.		13
HP:0012531	HP:0100749	Chest pain	1	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10			358
HP:0012531	HP:0003326	Myalgia	1	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0012531	HP:0003326	Myalgia	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040283 - Occasional		600
HP:0012531	HP:0002027	Abdominal pain	1	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		13
HP:0012531	HP:0002027	Abdominal pain	1	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		67
HP:0012531	HP:0002027	Abdominal pain	1	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent		67
HP:0012531	HP:0002027	Abdominal pain	1	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		55
HP:0012531	HP:0002027	Abdominal pain	1	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent		55
HP:0012531	HP:0002653	Bone pain	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		2
HP:0012531	HP:0002829	Arthralgia	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012531	HP:0002027	Abdominal pain	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent		79
HP:0012531	HP:0002653	Bone pain	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040281 - Very frequent		79
HP:0012531	HP:0002027	Abdominal pain	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional		79
HP:0012531	HP:0002027	Abdominal pain	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0012531	HP:0100749	Chest pain	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		172
HP:0012531	HP:0002829	Arthralgia	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0012531	HP:0002027	Abdominal pain	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0012531	HP:0003418	Back pain	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		107
HP:0012531	HP:0002027	Abdominal pain	1	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		4
HP:0012531	HP:0100749	Chest pain	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0012531	HP:0003326	Myalgia	1	ENO3 CL E G H	2027	3354	OMIM:612932	Glycogen storage disease XIII	.		34
HP:0012531	HP:0002653	Bone pain	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		151
HP:0012531	HP:0002829	Arthralgia	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0012531	HP:0100749	Chest pain	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		112
HP:0012531	HP:0002027	Abdominal pain	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0012531	HP:0032148	Episodic pain	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0012531	HP:0002027	Abdominal pain	1	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		6
HP:0012531	HP:0002027	Abdominal pain	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		51
HP:0012531	HP:0003326	Myalgia	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		51
HP:0012531	HP:0002027	Abdominal pain	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		170
HP:0012531	HP:0002027	Abdominal pain	1	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040282 - Frequent		43
HP:0012531	HP:0002829	Arthralgia	1	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040282 - Frequent		43
HP:0012531	HP:0003326	Myalgia	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0012531	HP:0002829	Arthralgia	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		77
HP:0012531	HP:0002027	Abdominal pain	1	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		12
HP:0012531	HP:0002027	Abdominal pain	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0012531	HP:0032148	Episodic pain	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0012531	HP:0002829	Arthralgia	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		106
HP:0012531	HP:0002829	Arthralgia	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		54
HP:0012531	HP:0002829	Arthralgia	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		158
HP:0012531	HP:0002829	Arthralgia	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		83
HP:0012531	HP:0009763	Limb pain	1	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62			2
HP:0012531	HP:0002027	Abdominal pain	1	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0012531	HP:0032148	Episodic pain	1	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0012531	HP:0002027	Abdominal pain	1	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040281 - Very frequent
HP:0012531	HP:0003326	Myalgia	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		96
HP:0012531	HP:0100749	Chest pain	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare		96
HP:0012531	HP:0032510	Tendon pain	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		96
HP:0012531	HP:0002653	Bone pain	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		96
HP:0012531	HP:0032510	Tendon pain	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		102
HP:0012531	HP:0100749	Chest pain	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare		102
HP:0012531	HP:0003326	Myalgia	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		102
HP:0012531	HP:0032148	Episodic pain	1	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0012531	HP:0002027	Abdominal pain	1	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0012531	HP:0002027	Abdominal pain	1	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		159
HP:0012531	HP:0002829	Arthralgia	1	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040282 - Frequent		303
HP:0012531	HP:0002829	Arthralgia	1	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040283 - Occasional		303
HP:0012531	HP:0002027	Abdominal pain	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		15
HP:0012531	HP:0009763	Limb pain	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0012531	HP:0003418	Back pain	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0012531	HP:0002829	Arthralgia	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040282 - Frequent		59
HP:0012531	HP:0003326	Myalgia	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		59
HP:0012531	HP:0002027	Abdominal pain	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040282 - Frequent		59
HP:0012531	HP:0100749	Chest pain	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		1361
HP:0012531	HP:0003326	Myalgia	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	.
HP:0012531	HP:0002027	Abdominal pain	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0012531	HP:0002653	Bone pain	1	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040282 - Frequent		51
HP:0012531	HP:0002653	Bone pain	1	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.		51
HP:0012531	HP:0100749	Chest pain	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		301
HP:0012531	HP:0002027	Abdominal pain	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0012531	HP:0032148	Episodic pain	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0012531	HP:0003418	Back pain	1	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy	.		68
HP:0012531	HP:0003418	Back pain	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		68
HP:0012531	HP:0002027	Abdominal pain	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		4
HP:0012531	HP:0002653	Bone pain	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		4
HP:0012531	HP:0002027	Abdominal pain	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012531	HP:0002829	Arthralgia	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0012531	HP:0003326	Myalgia	1	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		157
HP:0012531	HP:0003326	Myalgia	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.		157
HP:0012531	HP:0003326	Myalgia	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.		157
HP:0012531	HP:0003326	Myalgia	1	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		184
HP:0012531	HP:0032148	Episodic pain	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0012531	HP:0002027	Abdominal pain	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0012531	HP:0003418	Back pain	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional		8
HP:0012531	HP:0009763	Limb pain	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0012531	HP:0003326	Myalgia	1	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0012531	HP:0002027	Abdominal pain	1	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		11
HP:0012531	HP:0012532	Chronic pain	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional		111
HP:0012531	HP:0003326	Myalgia	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0012531	HP:0003326	Myalgia	1	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040283 - Occasional		30
HP:0012531	HP:0009763	Limb pain	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		9
HP:0012531	HP:0002653	Bone pain	1	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional		9
HP:0012531	HP:0100749	Chest pain	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		23
HP:0012531	HP:0002027	Abdominal pain	1	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		184
HP:0012531	HP:0002027	Abdominal pain	1	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040281 - Very frequent		50
HP:0012531	HP:0002027	Abdominal pain	1	FSHR CL E G H	2492	3969	OMIM:608115	Ovarian hyperstimulation syndrome	.		50
HP:0012531	HP:0002829	Arthralgia	1	FTL CL E G H	2512	3999	ORPHA:254704	Genetic hyperferritinemia without iron overload	HP:0040283 - Occasional		33
HP:0012531	HP:0002027	Abdominal pain	1	FUS CL E G H	2521	4010	ORPHA:99967	Myxoid/round cell liposarcoma	HP:0040283 - Occasional		105
HP:0012531	HP:0002027	Abdominal pain	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.		101
HP:0012531	HP:0002027	Abdominal pain	1	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012531	HP:0002653	Bone pain	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		86
HP:0012531	HP:0002027	Abdominal pain	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040282 - Frequent
HP:0012531	HP:0002653	Bone pain	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent
HP:0012531	HP:0002653	Bone pain	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040281 - Very frequent
HP:0012531	HP:0002653	Bone pain	1	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0012531	HP:0002027	Abdominal pain	1	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia	HP:0040282 - Frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0012531	HP:0002027	Abdominal pain	1	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		59
HP:0012531	HP:0002027	Abdominal pain	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent		56
HP:0012531	HP:0002027	Abdominal pain	1	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency	HP:0040281 - Very frequent		37
HP:0012531	HP:0009763	Limb pain	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0012531	HP:0009763	Limb pain	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0012531	HP:0002027	Abdominal pain	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent		291
HP:0012531	HP:0003326	Myalgia	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent		291
HP:0012531	HP:0002829	Arthralgia	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent		291
HP:0012531	HP:0002027	Abdominal pain	1	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.		291
HP:0012531	HP:0002027	Abdominal pain	1	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent		16
HP:0012531	HP:0046506	Pain in head and neck region	1	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma			16
HP:0012531	HP:0046506	Pain in head and neck region	1	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma			7
HP:0012531	HP:0002653	Bone pain	1	GNAS CL E G H	2778	4392	ORPHA:57782	Mazabraud syndrome	HP:0040283 - Occasional		101
HP:0012531	HP:0002653	Bone pain	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional		101
HP:0012531	HP:0002653	Bone pain	1	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia	HP:0040281 - Very frequent		101
HP:0012531	HP:0100749	Chest pain	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional		101
HP:0012531	HP:0100749	Chest pain	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		101
HP:0012531	HP:0100749	Chest pain	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional		101
HP:0012531	HP:0002829	Arthralgia	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012531	HP:0032148	Episodic pain	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0012531	HP:0002027	Abdominal pain	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0012531	HP:0002829	Arthralgia	1	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.		57
HP:0012531	HP:0003326	Myalgia	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		8
HP:0012531	HP:0002027	Abdominal pain	1	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		73
HP:0012531	HP:0002829	Arthralgia	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent		5
HP:0012531	HP:0002829	Arthralgia	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0012531	HP:0002027	Abdominal pain	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		2
HP:0012531	HP:0046506	Pain in head and neck region	1	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0012531	HP:0002829	Arthralgia	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0012531	HP:0002829	Arthralgia	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0012531	HP:0002829	Arthralgia	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	GUCY2C CL E G H	2984	4688	OMIM:614616	Diarrhea 6	HP:0040283 - Occasional		12
HP:0012531	HP:0002027	Abdominal pain	1	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		5
HP:0012531	HP:0002027	Abdominal pain	1	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		4
HP:0012531	HP:0002653	Bone pain	1	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional		58
HP:0012531	HP:0003326	Myalgia	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		99
HP:0012531	HP:0003326	Myalgia	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0012531	HP:0003326	Myalgia	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0012531	HP:0003326	Myalgia	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		60
HP:0012531	HP:0002829	Arthralgia	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional		580
HP:0012531	HP:0002829	Arthralgia	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0012531	HP:0002027	Abdominal pain	1	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0012531	HP:0002027	Abdominal pain	1	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0012531	HP:0002829	Arthralgia	1	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0012531	HP:0100749	Chest pain	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040282 - Frequent		580
HP:0012531	HP:0002027	Abdominal pain	1	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.		580
HP:0012531	HP:0002829	Arthralgia	1	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0012531	HP:0002027	Abdominal pain	1	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0012531	HP:0002027	Abdominal pain	1	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0012531	HP:0002829	Arthralgia	1	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0012531	HP:0030834	Shoulder pain	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0012531	HP:0410019	Epigastric pain	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0012531	HP:0002027	Abdominal pain	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0012531	HP:0003418	Back pain	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0012531	HP:0009763	Limb pain	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0012531	HP:0032148	Episodic pain	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0012531	HP:0002027	Abdominal pain	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0012531	HP:0100749	Chest pain	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.		38
HP:0012531	HP:0002027	Abdominal pain	1	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata	.		38
HP:0012531	HP:0002027	Abdominal pain	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent		38
HP:0012531	HP:0002829	Arthralgia	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional		38
HP:0012531	HP:0003418	Back pain	1	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria			77
HP:0012531	HP:0002829	Arthralgia	1	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040281 - Very frequent		77
HP:0012531	HP:0002829	Arthralgia	1	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria	.		77
HP:0012531	HP:0003326	Myalgia	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		3
HP:0012531	HP:0002829	Arthralgia	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040282 - Frequent		4
HP:0012531	HP:0002027	Abdominal pain	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040282 - Frequent		4
HP:0012531	HP:0003326	Myalgia	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		4
HP:0012531	HP:0002829	Arthralgia	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0012531	HP:0002027	Abdominal pain	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0012531	HP:0003326	Myalgia	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0012531	HP:0002829	Arthralgia	1	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040281 - Very frequent		4
HP:0012531	HP:0002027	Abdominal pain	1	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040282 - Frequent		4
HP:0012531	HP:0003418	Back pain	1	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1	.		4
HP:0012531	HP:0002027	Abdominal pain	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		4
HP:0012531	HP:0003326	Myalgia	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		4
HP:0012531	HP:0002829	Arthralgia	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional		4
HP:0012531	HP:0100749	Chest pain	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		4
HP:0012531	HP:0002829	Arthralgia	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0012531	HP:0003326	Myalgia	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0012531	HP:0002027	Abdominal pain	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0012531	HP:0100749	Chest pain	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0012531	HP:0003326	Myalgia	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		1
HP:0012531	HP:0100749	Chest pain	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		1
HP:0012531	HP:0002829	Arthralgia	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0012531	HP:0002829	Arthralgia	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0012531	HP:0100749	Chest pain	1	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0012531	HP:0002829	Arthralgia	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0012531	HP:0100749	Chest pain	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent
HP:0012531	HP:0100749	Chest pain	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040284 - Very rare		2
HP:0012531	HP:0002829	Arthralgia	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		2
HP:0012531	HP:0003326	Myalgia	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0012531	HP:0002027	Abdominal pain	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0012531	HP:0002829	Arthralgia	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0012531	HP:0100749	Chest pain	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		2
HP:0012531	HP:0100749	Chest pain	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0012531	HP:0002829	Arthralgia	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		2
HP:0012531	HP:0002027	Abdominal pain	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0012531	HP:0003418	Back pain	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040282 - Frequent		81
HP:0012531	HP:0009763	Limb pain	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040282 - Frequent		81
HP:0012531	HP:0002027	Abdominal pain	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040281 - Very frequent		81
HP:0012531	HP:0046506	Pain in head and neck region	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0012531	HP:0002027	Abdominal pain	1	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.		81
HP:0012531	HP:0003326	Myalgia	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:0012531	HP:0030838	Hip pain	1	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:0012531	HP:0030838	Hip pain	1	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:0012531	HP:0003326	Myalgia	1	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0012531	HP:0002829	Arthralgia	1	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy	HP:0040282 - Frequent		55
HP:0012531	HP:0002829	Arthralgia	1	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.		55
HP:0012531	HP:0002829	Arthralgia	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent		55
HP:0012531	HP:0002653	Bone pain	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040281 - Very frequent		55
HP:0012531	HP:0002027	Abdominal pain	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.		121
HP:0012531	HP:0002027	Abdominal pain	1	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0012531	HP:0003326	Myalgia	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0012531	HP:0003418	Back pain	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0012531	HP:0009763	Limb pain	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0012531	HP:0046506	Pain in head and neck region	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0012531	HP:0003418	Back pain	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0012531	HP:0009763	Limb pain	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0012531	HP:0030838	Hip pain	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0012531	HP:0002829	Arthralgia	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		32
HP:0012531	HP:0002653	Bone pain	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040282 - Frequent		15
HP:0012531	HP:0002653	Bone pain	1	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040282 - Frequent		15
HP:0012531	HP:0002653	Bone pain	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040282 - Frequent		29
HP:0012531	HP:0002653	Bone pain	1	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040282 - Frequent		29
HP:0012531	HP:0009763	Limb pain	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0012531	HP:0002829	Arthralgia	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040282 - Frequent		60
HP:0012531	HP:0002027	Abdominal pain	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040282 - Frequent		60
HP:0012531	HP:0003326	Myalgia	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		60
HP:0012531	HP:0002027	Abdominal pain	1	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		7
HP:0012531	HP:0003326	Myalgia	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0012531	HP:0002829	Arthralgia	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0012531	HP:0002829	Arthralgia	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0012531	HP:0003326	Myalgia	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0012531	HP:0002027	Abdominal pain	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		8
HP:0012531	HP:0003326	Myalgia	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		2
HP:0012531	HP:0002027	Abdominal pain	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040282 - Frequent		2
HP:0012531	HP:0002829	Arthralgia	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040282 - Frequent		2
HP:0012531	HP:0002829	Arthralgia	1	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0012531	HP:0002027	Abdominal pain	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0012531	HP:0002829	Arthralgia	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0012531	HP:0003326	Myalgia	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0012531	HP:0003326	Myalgia	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0012531	HP:0002027	Abdominal pain	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0012531	HP:0002829	Arthralgia	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0012531	HP:0003326	Myalgia	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		31
HP:0012531	HP:0002829	Arthralgia	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional		31
HP:0012531	HP:0100749	Chest pain	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		31
HP:0012531	HP:0002829	Arthralgia	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0012531	HP:0002829	Arthralgia	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0012531	HP:0003326	Myalgia	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0012531	HP:0002829	Arthralgia	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		65
HP:0012531	HP:0003326	Myalgia	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		65
HP:0012531	HP:0002829	Arthralgia	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0012531	HP:0003326	Myalgia	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0012531	HP:0002027	Abdominal pain	1	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.		2
HP:0012531	HP:0002829	Arthralgia	1	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		2
HP:0012531	HP:0002027	Abdominal pain	1	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0012531	HP:0002027	Abdominal pain	1	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		135
HP:0012531	HP:0100749	Chest pain	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare
HP:0012531	HP:0002027	Abdominal pain	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0012531	HP:0002829	Arthralgia	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0012531	HP:0002653	Bone pain	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		4
HP:0012531	HP:0002027	Abdominal pain	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		4
HP:0012531	HP:0002829	Arthralgia	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		4
HP:0012531	HP:0002027	Abdominal pain	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent		1
HP:0012531	HP:0100749	Chest pain	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional		1
HP:0012531	HP:0002829	Arthralgia	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent		1
HP:0012531	HP:0003326	Myalgia	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040282 - Frequent		1
HP:0012531	HP:0002829	Arthralgia	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		4
HP:0012531	HP:0002027	Abdominal pain	1	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		57
HP:0012531	HP:0100749	Chest pain	1	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		57
HP:0012531	HP:0100749	Chest pain	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent		57
HP:0012531	HP:0002829	Arthralgia	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent		57
HP:0012531	HP:0002027	Abdominal pain	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		57
HP:0012531	HP:0030157	Flank pain	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		57
HP:0012531	HP:0003326	Myalgia	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		2
HP:0012531	HP:0002027	Abdominal pain	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		3
HP:0012531	HP:0100749	Chest pain	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		202
HP:0012531	HP:0032148	Episodic pain	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0012531	HP:0002027	Abdominal pain	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0012531	HP:0002027	Abdominal pain	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.		202
HP:0012531	HP:0002653	Bone pain	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.		202
HP:0012531	HP:0002829	Arthralgia	1	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040282 - Frequent		167
HP:0012531	HP:0002027	Abdominal pain	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma	HP:0040283 - Occasional		327
HP:0012531	HP:0002653	Bone pain	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		327
HP:0012531	HP:0002829	Arthralgia	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		327
HP:0012531	HP:0003326	Myalgia	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		327
HP:0012531	HP:0002027	Abdominal pain	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		327
HP:0012531	HP:0002027	Abdominal pain	1	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0012531	HP:0002829	Arthralgia	1	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0012531	HP:0002027	Abdominal pain	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0012531	HP:0003326	Myalgia	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0012531	HP:0002829	Arthralgia	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		196
HP:0012531	HP:0003418	Back pain	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		196
HP:0012531	HP:0002027	Abdominal pain	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		196
HP:0012531	HP:0009763	Limb pain	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0012531	HP:0046506	Pain in head and neck region	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0012531	HP:0009763	Limb pain	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0012531	HP:0046506	Pain in head and neck region	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0012531	HP:0009763	Limb pain	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0012531	HP:0009763	Limb pain	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0012531	HP:0046506	Pain in head and neck region	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0012531	HP:0009763	Limb pain	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0012531	HP:0009763	Limb pain	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0012531	HP:0046506	Pain in head and neck region	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0012531	HP:0003326	Myalgia	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0012531	HP:0002829	Arthralgia	1	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		1
HP:0012531	HP:0003326	Myalgia	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040281 - Very frequent		70
HP:0012531	HP:0003326	Myalgia	1	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency			35
HP:0012531	HP:0003326	Myalgia	1	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI	.		35
HP:0012531	HP:0002829	Arthralgia	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		2157
HP:0012531	HP:0002829	Arthralgia	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		73
HP:0012531	HP:0002653	Bone pain	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040281 - Very frequent		68
HP:0012531	HP:0002829	Arthralgia	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional		68
HP:0012531	HP:0003326	Myalgia	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional		68
HP:0012531	HP:0032148	Episodic pain	1	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0012531	HP:0002829	Arthralgia	1	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0012531	HP:0002653	Bone pain	1	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0012531	HP:0009763	Limb pain	1	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0012531	HP:0030838	Hip pain	1	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0012531	HP:0002027	Abdominal pain	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		1
HP:0012531	HP:0002829	Arthralgia	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012531	HP:0003326	Myalgia	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0012531	HP:0003418	Back pain	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0012531	HP:0003418	Back pain	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0012531	HP:0003326	Myalgia	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040283 - Occasional		645
HP:0012531	HP:0003326	Myalgia	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional		645
HP:0012531	HP:0030838	Hip pain	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0012531	HP:0003326	Myalgia	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0012531	HP:0002829	Arthralgia	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional		645
HP:0012531	HP:0003326	Myalgia	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional		44
HP:0012531	HP:0002829	Arthralgia	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040283 - Occasional		11
HP:0012531	HP:0009763	Limb pain	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0012531	HP:0003418	Back pain	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040282 - Frequent		165
HP:0012531	HP:0003418	Back pain	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0012531	HP:0100749	Chest pain	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		6
HP:0012531	HP:0003326	Myalgia	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0012531	HP:0003326	Myalgia	1	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent	.		95
HP:0012531	HP:0002653	Bone pain	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent		186
HP:0012531	HP:0002829	Arthralgia	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent		186
HP:0012531	HP:0003326	Myalgia	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040282 - Frequent		186
HP:0012531	HP:0002829	Arthralgia	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0012531	HP:0002653	Bone pain	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0012531	HP:0002027	Abdominal pain	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0012531	HP:0032148	Episodic pain	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0012531	HP:0002027	Abdominal pain	1	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		125
HP:0012531	HP:0003418	Back pain	1	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		125
HP:0012531	HP:0200025	Mandibular pain	1	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0012531	HP:0002829	Arthralgia	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.		63
HP:0012531	HP:0009763	Limb pain	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0012531	HP:0002027	Abdominal pain	1	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		59
HP:0012531	HP:0002027	Abdominal pain	1	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		6
HP:0012531	HP:0100749	Chest pain	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		13
HP:0012531	HP:0002829	Arthralgia	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5	.		32
HP:0012531	HP:0030838	Hip pain	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0012531	HP:0009763	Limb pain	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0012531	HP:0003418	Back pain	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040284 - Very rare		32
HP:0012531	HP:0003326	Myalgia	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0012531	HP:0032148	Episodic pain	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0012531	HP:0002027	Abdominal pain	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0012531	HP:0100749	Chest pain	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		84
HP:0012531	HP:0032148	Episodic pain	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0012531	HP:0002027	Abdominal pain	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0012531	HP:0002027	Abdominal pain	1	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE			5
HP:0012531	HP:0002027	Abdominal pain	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0012531	HP:0100749	Chest pain	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		4
HP:0012531	HP:0032148	Episodic pain	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0012531	HP:0003326	Myalgia	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0012531	HP:0002027	Abdominal pain	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0012531	HP:0100749	Chest pain	1	MEF2A CL E G H	4205	6993	OMIM:608320	Coronary artery disease, autosomal dominant, 1	.		5
HP:0012531	HP:0003326	Myalgia	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		281
HP:0012531	HP:0002027	Abdominal pain	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040282 - Frequent		281
HP:0012531	HP:0002829	Arthralgia	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040282 - Frequent		281
HP:0012531	HP:0003326	Myalgia	1	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040281 - Very frequent		281
HP:0012531	HP:0002829	Arthralgia	1	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040281 - Very frequent		281
HP:0012531	HP:0100749	Chest pain	1	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040282 - Frequent		281
HP:0012531	HP:0002027	Abdominal pain	1	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040281 - Very frequent		281
HP:0012531	HP:0100749	Chest pain	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0012531	HP:0002829	Arthralgia	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0012531	HP:0032148	Episodic pain	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0012531	HP:0003326	Myalgia	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0012531	HP:0002027	Abdominal pain	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0012531	HP:0002829	Arthralgia	1	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT			281
HP:0012531	HP:0002027	Abdominal pain	1	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT			281
HP:0012531	HP:0100749	Chest pain	1	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT			281
HP:0012531	HP:0002829	Arthralgia	1	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis	HP:0040283 - Occasional		281
HP:0012531	HP:0003326	Myalgia	1	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0012531	HP:0002829	Arthralgia	1	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0012531	HP:0002829	Arthralgia	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040282 - Frequent		281
HP:0012531	HP:0003326	Myalgia	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040282 - Frequent		281
HP:0012531	HP:0002027	Abdominal pain	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		462
HP:0012531	HP:0003418	Back pain	1	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0012531	HP:0002027	Abdominal pain	1	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent		375
HP:0012531	HP:0410019	Epigastric pain	1	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent		375
HP:0012531	HP:0002027	Abdominal pain	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0012531	HP:0002829	Arthralgia	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0012531	HP:0100749	Chest pain	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		11
HP:0012531	HP:0009763	Limb pain	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0012531	HP:0002829	Arthralgia	1	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis	HP:0040281 - Very frequent		203
HP:0012531	HP:0003326	Myalgia	1	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0012531	HP:0002829	Arthralgia	1	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		1
HP:0012531	HP:0002653	Bone pain	1	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional		3
HP:0012531	HP:0002027	Abdominal pain	1	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent		91
HP:0012531	HP:0002027	Abdominal pain	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		1819
HP:0012531	HP:0002027	Abdominal pain	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		131
HP:0012531	HP:0003326	Myalgia	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0012531	HP:0002829	Arthralgia	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional
HP:0012531	HP:0100749	Chest pain	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0012531	HP:0003326	Myalgia	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0012531	HP:0002829	Arthralgia	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency	.		80
HP:0012531	HP:0009763	Limb pain	1	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0012531	HP:0012532	Chronic pain	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		6
HP:0012531	HP:0002829	Arthralgia	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0012531	HP:0002027	Abdominal pain	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040283 - Occasional
HP:0012531	HP:0003326	Myalgia	1	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II			4
HP:0012531	HP:0100749	Chest pain	1	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		97
HP:0012531	HP:0100749	Chest pain	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent		97
HP:0012531	HP:0002027	Abdominal pain	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		97
HP:0012531	HP:0002829	Arthralgia	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent		97
HP:0012531	HP:0030157	Flank pain	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		97
HP:0012531	HP:0002027	Abdominal pain	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0012531	HP:0032148	Episodic pain	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0012531	HP:0003326	Myalgia	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0012531	HP:0002829	Arthralgia	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		1
HP:0012531	HP:0002027	Abdominal pain	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		2162
HP:0012531	HP:0002027	Abdominal pain	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		2232
HP:0012531	HP:0002829	Arthralgia	1	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	.		3
HP:0012531	HP:0002027	Abdominal pain	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		1
HP:0012531	HP:0003326	Myalgia	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0012531	HP:0003326	Myalgia	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0012531	HP:0003326	Myalgia	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0012531	HP:0003326	Myalgia	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent		81
HP:0012531	HP:0002829	Arthralgia	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional
HP:0012531	HP:0002829	Arthralgia	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0012531	HP:0002027	Abdominal pain	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0012531	HP:0003326	Myalgia	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0012531	HP:0003326	Myalgia	1	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040281 - Very frequent		150
HP:0012531	HP:0002027	Abdominal pain	1	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040281 - Very frequent		150
HP:0012531	HP:0002829	Arthralgia	1	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040281 - Very frequent		150
HP:0012531	HP:0002829	Arthralgia	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0012531	HP:0100749	Chest pain	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.		1143
HP:0012531	HP:0002027	Abdominal pain	1	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional		11
HP:0012531	HP:0003326	Myalgia	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0012531	HP:0100749	Chest pain	1	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent		418
HP:0012531	HP:0100749	Chest pain	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		418
HP:0012531	HP:0002829	Arthralgia	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0012531	HP:0100749	Chest pain	1	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040282 - Frequent		1269
HP:0012531	HP:0003326	Myalgia	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent		1269
HP:0012531	HP:0003326	Myalgia	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.		1269
HP:0012531	HP:0100749	Chest pain	1	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	.		131
HP:0012531	HP:0100749	Chest pain	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		326
HP:0012531	HP:0002027	Abdominal pain	1	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		3
HP:0012531	HP:0003326	Myalgia	1	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.		75
HP:0012531	HP:0003418	Back pain	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0012531	HP:0002653	Bone pain	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0012531	HP:0002027	Abdominal pain	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0012531	HP:0002829	Arthralgia	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0012531	HP:0002027	Abdominal pain	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0012531	HP:0002653	Bone pain	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		39
HP:0012531	HP:0032148	Episodic pain	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0012531	HP:0002027	Abdominal pain	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0012531	HP:0100749	Chest pain	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		1952
HP:0012531	HP:0033345	Neuralgia	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0012531	HP:0003418	Back pain	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare		220
HP:0012531	HP:0046506	Pain in head and neck region	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0012531	HP:0002829	Arthralgia	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		7
HP:0012531	HP:0002829	Arthralgia	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		11
HP:0012531	HP:0002829	Arthralgia	1	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA			1
HP:0012531	HP:0002027	Abdominal pain	1	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent		90
HP:0012531	HP:0003418	Back pain	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0012531	HP:0003326	Myalgia	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0012531	HP:0002829	Arthralgia	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0012531	HP:0002829	Arthralgia	1	NLRC4 CL E G H	58484	16412	OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4			30
HP:0012531	HP:0002027	Abdominal pain	1	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0012531	HP:0033050	Pharyngalgia	1	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0012531	HP:0002829	Arthralgia	1	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0012531	HP:0003326	Myalgia	1	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0012531	HP:0009763	Limb pain	1	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0012531	HP:0002829	Arthralgia	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent		217
HP:0012531	HP:0003326	Myalgia	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent		217
HP:0012531	HP:0002829	Arthralgia	1	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation	.		217
HP:0012531	HP:0002829	Arthralgia	1	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0012531	HP:0003326	Myalgia	1	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0012531	HP:0002027	Abdominal pain	1	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040283 - Occasional		217
HP:0012531	HP:0002829	Arthralgia	1	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040283 - Occasional		217
HP:0012531	HP:0003326	Myalgia	1	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040281 - Very frequent		217
HP:0012531	HP:0002829	Arthralgia	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040281 - Very frequent		217
HP:0012531	HP:0003326	Myalgia	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome	.		217
HP:0012531	HP:0002027	Abdominal pain	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040282 - Frequent		217
HP:0012531	HP:0002829	Arthralgia	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0012531	HP:0003326	Myalgia	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional		217
HP:0012531	HP:0002027	Abdominal pain	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0012531	HP:0032148	Episodic pain	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0012531	HP:0002829	Arthralgia	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040281 - Very frequent		187
HP:0012531	HP:0002027	Abdominal pain	1	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.		187
HP:0012531	HP:0002829	Arthralgia	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0012531	HP:0003326	Myalgia	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0012531	HP:0100749	Chest pain	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0012531	HP:0002027	Abdominal pain	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0012531	HP:0100749	Chest pain	1	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent		2
HP:0012531	HP:0002829	Arthralgia	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent		138
HP:0012531	HP:0002653	Bone pain	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent		138
HP:0012531	HP:0002027	Abdominal pain	1	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		241
HP:0012531	HP:0002027	Abdominal pain	1	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		69
HP:0012531	HP:0002653	Bone pain	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		12
HP:0012531	HP:0002027	Abdominal pain	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		12
HP:0012531	HP:0002027	Abdominal pain	1	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		14
HP:0012531	HP:0002027	Abdominal pain	1	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		4
HP:0012531	HP:0003326	Myalgia	1	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional
HP:0012531	HP:0046506	Pain in head and neck region	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0012531	HP:0002027	Abdominal pain	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0012531	HP:0002653	Bone pain	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0012531	HP:0002027	Abdominal pain	1	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		5
HP:0012531	HP:0002027	Abdominal pain	1	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		1
HP:0012531	HP:0002027	Abdominal pain	1	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012531	HP:0002027	Abdominal pain	1	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		1
HP:0012531	HP:0002027	Abdominal pain	1	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012531	HP:0002027	Abdominal pain	1	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012531	HP:0002027	Abdominal pain	1	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		5
HP:0012531	HP:0003326	Myalgia	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		214
HP:0012531	HP:0002027	Abdominal pain	1	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency	.		5
HP:0012531	HP:0003326	Myalgia	1	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent		19
HP:0012531	HP:0002027	Abdominal pain	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0012531	HP:0003326	Myalgia	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0012531	HP:0002027	Abdominal pain	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0012531	HP:0002829	Arthralgia	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0012531	HP:0046506	Pain in head and neck region	1	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0012531	HP:0002027	Abdominal pain	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0012531	HP:0002829	Arthralgia	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0012531	HP:0003326	Myalgia	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0012531	HP:0002027	Abdominal pain	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		1349
HP:0012531	HP:0003418	Back pain	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		1349
HP:0012531	HP:0002027	Abdominal pain	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		192
HP:0012531	HP:0003418	Back pain	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		192
HP:0012531	HP:0002027	Abdominal pain	1	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		39
HP:0012531	HP:0002829	Arthralgia	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		178
HP:0012531	HP:0033345	Neuralgia	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0012531	HP:0003418	Back pain	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare		9
HP:0012531	HP:0046506	Pain in head and neck region	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0012531	HP:0003326	Myalgia	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.		337
HP:0012531	HP:0003326	Myalgia	1	PGAM2 CL E G H	5224	8889	OMIM:261670	Phosphoglycerate mutase, muscle, deficiency of			26
HP:0012531	HP:0003326	Myalgia	1	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0012531	HP:0002653	Bone pain	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0012531	HP:0002829	Arthralgia	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0012531	HP:0002653	Bone pain	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0012531	HP:0002829	Arthralgia	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0012531	HP:0003326	Myalgia	1	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked			54
HP:0012531	HP:0003326	Myalgia	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		54
HP:0012531	HP:0003326	Myalgia	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012531	HP:0003326	Myalgia	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		48
HP:0012531	HP:0002027	Abdominal pain	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		36
HP:0012531	HP:0100749	Chest pain	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent		46
HP:0012531	HP:0002027	Abdominal pain	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0012531	HP:0032148	Episodic pain	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0012531	HP:0002027	Abdominal pain	1	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2	.		12
HP:0012531	HP:0002829	Arthralgia	1	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2	.		12
HP:0012531	HP:0002027	Abdominal pain	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0012531	HP:0002027	Abdominal pain	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		162
HP:0012531	HP:0033345	Neuralgia	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0012531	HP:0046506	Pain in head and neck region	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0012531	HP:0003418	Back pain	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare		162
HP:0012531	HP:0002027	Abdominal pain	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0012531	HP:0002829	Arthralgia	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0012531	HP:0002027	Abdominal pain	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040282 - Frequent		563
HP:0012531	HP:0002027	Abdominal pain	1	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		118
HP:0012531	HP:0002829	Arthralgia	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	.		21
HP:0012531	HP:0003418	Back pain	1	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		2
HP:0012531	HP:0100749	Chest pain	1	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18	.		57
HP:0012531	HP:0002653	Bone pain	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		3
HP:0012531	HP:0002027	Abdominal pain	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		3
HP:0012531	HP:0030834	Shoulder pain	1	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040283 - Occasional		79
HP:0012531	HP:0002027	Abdominal pain	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		56
HP:0012531	HP:0002027	Abdominal pain	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		1121
HP:0012531	HP:0003326	Myalgia	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	.		65
HP:0012531	HP:0003326	Myalgia	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent		65
HP:0012531	HP:0100749	Chest pain	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0012531	HP:0032148	Episodic pain	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0012531	HP:0002027	Abdominal pain	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0012531	HP:0002653	Bone pain	1	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature	HP:0040283 - Occasional		1129
HP:0012531	HP:0003326	Myalgia	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0012531	HP:0012533	Allodynia	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0012531	HP:0002027	Abdominal pain	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		464
HP:0012531	HP:0002027	Abdominal pain	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.		464
HP:0012531	HP:0002027	Abdominal pain	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		464
HP:0012531	HP:0003326	Myalgia	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0012531	HP:0003326	Myalgia	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.		45
HP:0012531	HP:0003326	Myalgia	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0012531	HP:0003418	Back pain	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0012531	HP:0002829	Arthralgia	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2	.		2
HP:0012531	HP:0003326	Myalgia	1	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		213
HP:0012531	HP:0002027	Abdominal pain	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional		213
HP:0012531	HP:0002027	Abdominal pain	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional		20
HP:0012531	HP:0002027	Abdominal pain	1	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		2
HP:0012531	HP:0003326	Myalgia	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional		42
HP:0012531	HP:0100749	Chest pain	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040282 - Frequent		41
HP:0012531	HP:0002027	Abdominal pain	1	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata	.		41
HP:0012531	HP:0002027	Abdominal pain	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040281 - Very frequent		41
HP:0012531	HP:0003418	Back pain	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040282 - Frequent		41
HP:0012531	HP:0003326	Myalgia	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		58
HP:0012531	HP:0003326	Myalgia	1	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	HP:0040283 - Occasional		58
HP:0012531	HP:0100749	Chest pain	1	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6			235
HP:0012531	HP:0002653	Bone pain	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		134
HP:0012531	HP:0002027	Abdominal pain	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		134
HP:0012531	HP:0002027	Abdominal pain	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		134
HP:0012531	HP:0100749	Chest pain	1	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040283 - Occasional		134
HP:0012531	HP:0002829	Arthralgia	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		10
HP:0012531	HP:0003418	Back pain	1	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		63
HP:0012531	HP:0002027	Abdominal pain	1	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		63
HP:0012531	HP:0003418	Back pain	1	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts	.		63
HP:0012531	HP:0100749	Chest pain	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		41
HP:0012531	HP:0009763	Limb pain	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.		37
HP:0012531	HP:0009763	Limb pain	1	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16			37
HP:0012531	HP:0040264	Jaw pain	1	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease	HP:0040281 - Very frequent		69
HP:0012531	HP:0033345	Neuralgia	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0012531	HP:0003326	Myalgia	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0012531	HP:0002027	Abdominal pain	1	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		51
HP:0012531	HP:0002027	Abdominal pain	1	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.		51
HP:0012531	HP:0002027	Abdominal pain	1	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.		1
HP:0012531	HP:0003326	Myalgia	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0012531	HP:0002027	Abdominal pain	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0012531	HP:0100749	Chest pain	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0012531	HP:0002829	Arthralgia	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0012531	HP:0002653	Bone pain	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0012531	HP:0002829	Arthralgia	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0012531	HP:0002653	Bone pain	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0012531	HP:0002829	Arthralgia	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0012531	HP:0002829	Arthralgia	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0012531	HP:0002829	Arthralgia	1	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	HP:0040282 - Frequent		96
HP:0012531	HP:0002027	Abdominal pain	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent		948
HP:0012531	HP:0002829	Arthralgia	1	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040281 - Very frequent		58
HP:0012531	HP:0002653	Bone pain	1	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040282 - Frequent		58
HP:0012531	HP:0002653	Bone pain	1	PTPN11 CL E G H	5781	9644	ORPHA:2499	Metachondromatosis	HP:0040281 - Very frequent		291
HP:0012531	HP:0003326	Myalgia	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0012531	HP:0002829	Arthralgia	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0012531	HP:0002829	Arthralgia	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0012531	HP:0003326	Myalgia	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0012531	HP:0100749	Chest pain	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		3
HP:0012531	HP:0002027	Abdominal pain	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		3
HP:0012531	HP:0002829	Arthralgia	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		3
HP:0012531	HP:0003326	Myalgia	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		3
HP:0012531	HP:0002829	Arthralgia	1	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0012531	HP:0003326	Myalgia	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		3
HP:0012531	HP:0002829	Arthralgia	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		3
HP:0012531	HP:0002027	Abdominal pain	1	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma	HP:0040283 - Occasional		1
HP:0012531	HP:0002027	Abdominal pain	1	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		2
HP:0012531	HP:0003326	Myalgia	1	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency			166
HP:0012531	HP:0003326	Myalgia	1	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V			166
HP:0012531	HP:0002027	Abdominal pain	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent
HP:0012531	HP:0003418	Back pain	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent
HP:0012531	HP:0002027	Abdominal pain	1	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome			25
HP:0012531	HP:0003326	Myalgia	1	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional		9
HP:0012531	HP:0002653	Bone pain	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		2
HP:0012531	HP:0002027	Abdominal pain	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		2
HP:0012531	HP:0046506	Pain in head and neck region	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome			88
HP:0012531	HP:0003418	Back pain	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional		88
HP:0012531	HP:0100749	Chest pain	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional		88
HP:0012531	HP:0009763	Limb pain	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome			88
HP:0012531	HP:0002027	Abdominal pain	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0012531	HP:0003326	Myalgia	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency	.		10
HP:0012531	HP:0002027	Abdominal pain	1	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		7
HP:0012531	HP:0002027	Abdominal pain	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0012531	HP:0032148	Episodic pain	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0012531	HP:0100749	Chest pain	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		572
HP:0012531	HP:0002027	Abdominal pain	1	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		572
HP:0012531	HP:0100749	Chest pain	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA			572
HP:0012531	HP:0100749	Chest pain	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		572
HP:0012531	HP:0032148	Episodic pain	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0012531	HP:0002027	Abdominal pain	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0012531	HP:0002829	Arthralgia	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012531	HP:0002027	Abdominal pain	1	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0012531	HP:0003326	Myalgia	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		3
HP:0012531	HP:0003326	Myalgia	1	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	HP:0040283 - Occasional		3
HP:0012531	HP:0002027	Abdominal pain	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional		7
HP:0012531	HP:0100749	Chest pain	1	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040282 - Frequent		3
HP:0012531	HP:0002829	Arthralgia	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040282 - Frequent		15
HP:0012531	HP:0002027	Abdominal pain	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent		1
HP:0012531	HP:0003326	Myalgia	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0012531	HP:0003326	Myalgia	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		125
HP:0012531	HP:0003326	Myalgia	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0012531	HP:0002027	Abdominal pain	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		125
HP:0012531	HP:0002027	Abdominal pain	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		181
HP:0012531	HP:0002829	Arthralgia	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		181
HP:0012531	HP:0002653	Bone pain	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		181
HP:0012531	HP:0003326	Myalgia	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0012531	HP:0003326	Myalgia	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0012531	HP:0003326	Myalgia	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0012531	HP:0002027	Abdominal pain	1	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040282 - Frequent		2
HP:0012531	HP:0002653	Bone pain	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent		77
HP:0012531	HP:0002027	Abdominal pain	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040282 - Frequent		77
HP:0012531	HP:0002027	Abdominal pain	1	SCN1B CL E G H	6324	10586	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent		126
HP:0012531	HP:0003326	Myalgia	1	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia	HP:0040281 - Very frequent		263
HP:0012531	HP:0100749	Chest pain	1	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia	HP:0040282 - Frequent		263
HP:0012531	HP:0003326	Myalgia	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040282 - Frequent		263
HP:0012531	HP:0100749	Chest pain	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional		263
HP:0012531	HP:0003326	Myalgia	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040283 - Occasional		263
HP:0012531	HP:0003326	Myalgia	1	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional		263
HP:0012531	HP:0100749	Chest pain	1	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional		263
HP:0012531	HP:0003326	Myalgia	1	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated	.		263
HP:0012531	HP:0003326	Myalgia	1	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg	.		263
HP:0012531	HP:0003326	Myalgia	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent		263
HP:0012531	HP:0002027	Abdominal pain	1	SCN5A CL E G H	6331	10593	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent		1134
HP:0012531	HP:0032147	Erythromelalgia	1	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary			318
HP:0012531	HP:0040264	Jaw pain	1	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.		318
HP:0012531	HP:0003326	Myalgia	1	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.		318
HP:0012531	HP:0046506	Pain in head and neck region	1	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder			318
HP:0012531	HP:0200025	Mandibular pain	1	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder	.		318
HP:0012531	HP:0500005	Anal pain	1	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder	.		318
HP:0012531	HP:0100749	Chest pain	1	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		67
HP:0012531	HP:0100749	Chest pain	1	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		61
HP:0012531	HP:0100749	Chest pain	1	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		57
HP:0012531	HP:0032148	Episodic pain	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0012531	HP:0002027	Abdominal pain	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0012531	HP:0100749	Chest pain	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		304
HP:0012531	HP:0003326	Myalgia	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0012531	HP:0100749	Chest pain	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		55
HP:0012531	HP:0032148	Episodic pain	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0012531	HP:0002027	Abdominal pain	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0012531	HP:0002027	Abdominal pain	1	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		237
HP:0012531	HP:0002027	Abdominal pain	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0012531	HP:0032148	Episodic pain	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0012531	HP:0100749	Chest pain	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		237
HP:0012531	HP:0032148	Episodic pain	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0012531	HP:0100749	Chest pain	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		237
HP:0012531	HP:0002027	Abdominal pain	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0012531	HP:0002027	Abdominal pain	1	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		147
HP:0012531	HP:0100749	Chest pain	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		147
HP:0012531	HP:0002027	Abdominal pain	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0012531	HP:0032148	Episodic pain	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0012531	HP:0002027	Abdominal pain	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome			129
HP:0012531	HP:0032148	Episodic pain	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome			129
HP:0012531	HP:0002027	Abdominal pain	1	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		129
HP:0012531	HP:0032148	Episodic pain	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0012531	HP:0002027	Abdominal pain	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0012531	HP:0100749	Chest pain	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		129
HP:0012531	HP:0100749	Chest pain	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		129
HP:0012531	HP:0002027	Abdominal pain	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0012531	HP:0032148	Episodic pain	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0012531	HP:0003326	Myalgia	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0012531	HP:0003418	Back pain	1	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		137
HP:0012531	HP:0002027	Abdominal pain	1	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		137
HP:0012531	HP:0002027	Abdominal pain	1	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		2
HP:0012531	HP:0002027	Abdominal pain	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent		48
HP:0012531	HP:0002027	Abdominal pain	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0012531	HP:0002829	Arthralgia	1	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy	HP:0040281 - Very frequent
HP:0012531	HP:0002653	Bone pain	1	SERPINF2 CL E G H	5345	9075	ORPHA:79	Congenital alpha2-antiplasmin deficiency	HP:0040283 - Occasional		8
HP:0012531	HP:0002027	Abdominal pain	1	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1	.		64
HP:0012531	HP:0002027	Abdominal pain	1	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040281 - Very frequent		64
HP:0012531	HP:0046506	Pain in head and neck region	1	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma			19
HP:0012531	HP:0002829	Arthralgia	1	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease	.		3
HP:0012531	HP:0100749	Chest pain	1	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		4
HP:0012531	HP:0033345	Neuralgia	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0012531	HP:0003326	Myalgia	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0012531	HP:0002027	Abdominal pain	1	SI CL E G H	6476	10856	ORPHA:35122	Congenital sucrase-isomaltase deficiency			98
HP:0012531	HP:0002027	Abdominal pain	1	SI CL E G H	6476	10856	OMIM:222900	Sucrase-isomaltase deficiency, congenital			98
HP:0012531	HP:0002027	Abdominal pain	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040282 - Frequent		145
HP:0012531	HP:0002829	Arthralgia	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0012531	HP:0003326	Myalgia	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0012531	HP:0002829	Arthralgia	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0012531	HP:0002027	Abdominal pain	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0012531	HP:0003418	Back pain	1	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional		56
HP:0012531	HP:0002829	Arthralgia	1	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0012531	HP:0002027	Abdominal pain	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0012531	HP:0100749	Chest pain	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0012531	HP:0032148	Episodic pain	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0012531	HP:0002027	Abdominal pain	1	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0012531	HP:0003326	Myalgia	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0012531	HP:0003326	Myalgia	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)	.		68
HP:0012531	HP:0002829	Arthralgia	1	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4	.		166
HP:0012531	HP:0002829	Arthralgia	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040281 - Very frequent		166
HP:0012531	HP:0003418	Back pain	1	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional		57
HP:0012531	HP:0002653	Bone pain	1	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040282 - Frequent		47
HP:0012531	HP:0002653	Bone pain	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		47
HP:0012531	HP:0100749	Chest pain	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040282 - Frequent		7
HP:0012531	HP:0002653	Bone pain	1	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040282 - Frequent		52
HP:0012531	HP:0002653	Bone pain	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0012531	HP:0046506	Pain in head and neck region	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0012531	HP:0002027	Abdominal pain	1	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4	HP:0040282 - Frequent		56
HP:0012531	HP:0002829	Arthralgia	1	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4	HP:0040281 - Very frequent		56
HP:0012531	HP:0002829	Arthralgia	1	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0012531	HP:0002027	Abdominal pain	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		109
HP:0012531	HP:0003326	Myalgia	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		109
HP:0012531	HP:0002027	Abdominal pain	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		109
HP:0012531	HP:0046506	Pain in head and neck region	1	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0012531	HP:0009763	Limb pain	1	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant			13
HP:0012531	HP:0009763	Limb pain	1	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2			13
HP:0012531	HP:0002653	Bone pain	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040281 - Very frequent		13
HP:0012531	HP:0002829	Arthralgia	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent		13
HP:0012531	HP:0100749	Chest pain	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		7
HP:0012531	HP:0002829	Arthralgia	1	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0012531	HP:0100749	Chest pain	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		260
HP:0012531	HP:0003418	Back pain	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		504
HP:0012531	HP:0002027	Abdominal pain	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		504
HP:0012531	HP:0100749	Chest pain	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		504
HP:0012531	HP:0002027	Abdominal pain	1	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome			504
HP:0012531	HP:0046506	Pain in head and neck region	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0012531	HP:0033345	Neuralgia	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0012531	HP:0003418	Back pain	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare		87
HP:0012531	HP:0046506	Pain in head and neck region	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0012531	HP:0003418	Back pain	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare		47
HP:0012531	HP:0033345	Neuralgia	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0012531	HP:0002027	Abdominal pain	1	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		22
HP:0012531	HP:0046506	Pain in head and neck region	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0012531	HP:0003418	Back pain	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare		22
HP:0012531	HP:0033345	Neuralgia	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0012531	HP:0002829	Arthralgia	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0012531	HP:0002653	Bone pain	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0012531	HP:0002829	Arthralgia	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0012531	HP:0002027	Abdominal pain	1	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:0012531	HP:0002027	Abdominal pain	1	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent		61
HP:0012531	HP:0003418	Back pain	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0012531	HP:0009763	Limb pain	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7			171
HP:0012531	HP:0002027	Abdominal pain	1	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		34
HP:0012531	HP:0002027	Abdominal pain	1	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.		34
HP:0012531	HP:0002027	Abdominal pain	1	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis	.		34
HP:0012531	HP:0410019	Epigastric pain	1	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0012531	HP:0002829	Arthralgia	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0012531	HP:0002027	Abdominal pain	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0012531	HP:0100749	Chest pain	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare
HP:0012531	HP:0002027	Abdominal pain	1	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		228
HP:0012531	HP:0002027	Abdominal pain	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		228
HP:0012531	HP:0003326	Myalgia	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		228
HP:0012531	HP:0002027	Abdominal pain	1	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		156
HP:0012531	HP:0003326	Myalgia	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		156
HP:0012531	HP:0002027	Abdominal pain	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		156
HP:0012531	HP:0003418	Back pain	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012531	HP:0002027	Abdominal pain	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012531	HP:0009763	Limb pain	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		54
HP:0012531	HP:0009763	Limb pain	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		149
HP:0012531	HP:0002653	Bone pain	1	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3	.		62
HP:0012531	HP:0002027	Abdominal pain	1	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		1
HP:0012531	HP:0002653	Bone pain	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		1
HP:0012531	HP:0002829	Arthralgia	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		1
HP:0012531	HP:0002027	Abdominal pain	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		1
HP:0012531	HP:0002653	Bone pain	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		1
HP:0012531	HP:0003326	Myalgia	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		1
HP:0012531	HP:0002829	Arthralgia	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		1
HP:0012531	HP:0002027	Abdominal pain	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0012531	HP:0032148	Episodic pain	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0012531	HP:0002027	Abdominal pain	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		110
HP:0012531	HP:0002653	Bone pain	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		110
HP:0012531	HP:0002829	Arthralgia	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040282 - Frequent		2
HP:0012531	HP:0002027	Abdominal pain	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040282 - Frequent		2
HP:0012531	HP:0003326	Myalgia	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		2
HP:0012531	HP:0100749	Chest pain	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare		2
HP:0012531	HP:0002829	Arthralgia	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional		2
HP:0012531	HP:0002027	Abdominal pain	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional		2
HP:0012531	HP:0002829	Arthralgia	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		2
HP:0012531	HP:0003326	Myalgia	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0012531	HP:0002027	Abdominal pain	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		12
HP:0012531	HP:0002653	Bone pain	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		12
HP:0012531	HP:0003418	Back pain	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0012531	HP:0003326	Myalgia	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0012531	HP:0003326	Myalgia	1	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.		31
HP:0012531	HP:0003326	Myalgia	1	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent		31
HP:0012531	HP:0002829	Arthralgia	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0012531	HP:0002027	Abdominal pain	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional		740
HP:0012531	HP:0002027	Abdominal pain	1	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.		740
HP:0012531	HP:0002027	Abdominal pain	1	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		2
HP:0012531	HP:0100749	Chest pain	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		86
HP:0012531	HP:0002027	Abdominal pain	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012531	HP:0002829	Arthralgia	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0012531	HP:0033345	Neuralgia	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0012531	HP:0046506	Pain in head and neck region	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0012531	HP:0003418	Back pain	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare		124
HP:0012531	HP:0003326	Myalgia	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0012531	HP:0002027	Abdominal pain	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0012531	HP:0003418	Back pain	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		1129
HP:0012531	HP:0003418	Back pain	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		508
HP:0012531	HP:0002027	Abdominal pain	1	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		1
HP:0012531	HP:0002027	Abdominal pain	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		22
HP:0012531	HP:0002653	Bone pain	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		22
HP:0012531	HP:0002027	Abdominal pain	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012531	HP:0002829	Arthralgia	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0012531	HP:0003326	Myalgia	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		32
HP:0012531	HP:0030157	Flank pain	1	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2	.		5
HP:0012531	HP:0003418	Back pain	1	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2			5
HP:0012531	HP:0003418	Back pain	1	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5			19
HP:0012531	HP:0046506	Pain in head and neck region	1	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0012531	HP:0002027	Abdominal pain	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		241
HP:0012531	HP:0002027	Abdominal pain	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent		82
HP:0012531	HP:0002653	Bone pain	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0012531	HP:0003418	Back pain	1	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		82
HP:0012531	HP:0002653	Bone pain	1	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus	HP:0040281 - Very frequent		78
HP:0012531	HP:0002027	Abdominal pain	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		238
HP:0012531	HP:0046506	Pain in head and neck region	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0012531	HP:0033345	Neuralgia	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0012531	HP:0003418	Back pain	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare		238
HP:0012531	HP:0002829	Arthralgia	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		3
HP:0012531	HP:0002027	Abdominal pain	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		3
HP:0012531	HP:0002653	Bone pain	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		3
HP:0012531	HP:0100749	Chest pain	1	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		3
HP:0012531	HP:0002829	Arthralgia	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent		3
HP:0012531	HP:0002027	Abdominal pain	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		3
HP:0012531	HP:0030157	Flank pain	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		3
HP:0012531	HP:0003326	Myalgia	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		3
HP:0012531	HP:0002027	Abdominal pain	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		3
HP:0012531	HP:0002829	Arthralgia	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		3
HP:0012531	HP:0002653	Bone pain	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		3
HP:0012531	HP:0009763	Limb pain	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0012531	HP:0002653	Bone pain	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040281 - Very frequent		13
HP:0012531	HP:0100749	Chest pain	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		162
HP:0012531	HP:0012532	Chronic pain	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0012531	HP:0100749	Chest pain	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		85
HP:0012531	HP:0046506	Pain in head and neck region	1	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I			58
HP:0012531	HP:0046506	Pain in head and neck region	1	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0012531	HP:0032148	Episodic pain	1	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy	HP:0040282 - Frequent		58
HP:0012531	HP:0046506	Pain in head and neck region	1	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy			58
HP:0012531	HP:0100749	Chest pain	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		239
HP:0012531	HP:0100749	Chest pain	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		253
HP:0012531	HP:0002027	Abdominal pain	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		253
HP:0012531	HP:0100749	Chest pain	1	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040282 - Frequent		253
HP:0012531	HP:0100749	Chest pain	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent		23
HP:0012531	HP:0003326	Myalgia	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional		103
HP:0012531	HP:0002829	Arthralgia	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040282 - Frequent		3
HP:0012531	HP:0003326	Myalgia	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		3
HP:0012531	HP:0002027	Abdominal pain	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040282 - Frequent		3
HP:0012531	HP:0002829	Arthralgia	1	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0012531	HP:0003326	Myalgia	1	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29	.		4
HP:0012531	HP:0002027	Abdominal pain	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0012531	HP:0100749	Chest pain	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		131
HP:0012531	HP:0032148	Episodic pain	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0012531	HP:0002829	Arthralgia	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012531	HP:0100749	Chest pain	1	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5	.		171
HP:0012531	HP:0003418	Back pain	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		171
HP:0012531	HP:0002653	Bone pain	1	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis	.		72
HP:0012531	HP:0002653	Bone pain	1	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	.		72
HP:0012531	HP:0002829	Arthralgia	1	TNFRSF11B CL E G H	4982	11909	ORPHA:1416	Familial calcium pyrophosphate deposition	HP:0040281 - Very frequent		44
HP:0012531	HP:0002829	Arthralgia	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		32
HP:0012531	HP:0002829	Arthralgia	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		12
HP:0012531	HP:0002829	Arthralgia	1	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis	HP:0040283 - Occasional		131
HP:0012531	HP:0002653	Bone pain	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0012531	HP:0002829	Arthralgia	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0012531	HP:0003326	Myalgia	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0012531	HP:0002027	Abdominal pain	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0012531	HP:0003326	Myalgia	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040281 - Very frequent		131
HP:0012531	HP:0002829	Arthralgia	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional		131
HP:0012531	HP:0100749	Chest pain	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional		131
HP:0012531	HP:0002027	Abdominal pain	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040281 - Very frequent		131
HP:0012531	HP:0002653	Bone pain	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0012531	HP:0002829	Arthralgia	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		1
HP:0012531	HP:0100749	Chest pain	1	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13	.		73
HP:0012531	HP:0002829	Arthralgia	1	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040282 - Frequent		134
HP:0012531	HP:0003326	Myalgia	1	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040282 - Frequent		134
HP:0012531	HP:0002829	Arthralgia	1	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.		134
HP:0012531	HP:0009763	Limb pain	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0012531	HP:0046506	Pain in head and neck region	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0012531	HP:0030834	Shoulder pain	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0012531	HP:0002027	Abdominal pain	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		911
HP:0012531	HP:0100749	Chest pain	1	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		911
HP:0012531	HP:0002027	Abdominal pain	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		911
HP:0012531	HP:0003418	Back pain	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		911
HP:0012531	HP:0003418	Back pain	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0012531	HP:0046506	Pain in head and neck region	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0012531	HP:0033345	Neuralgia	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0012531	HP:0003326	Myalgia	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040282 - Frequent		27
HP:0012531	HP:0003326	Myalgia	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.		27
HP:0012531	HP:0003326	Myalgia	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent		27
HP:0012531	HP:0002829	Arthralgia	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent		46
HP:0012531	HP:0003418	Back pain	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent		46
HP:0012531	HP:0009763	Limb pain	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional		46
HP:0012531	HP:0002829	Arthralgia	1	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.		46
HP:0012531	HP:0002027	Abdominal pain	1	TREH CL E G H	11181	12266	ORPHA:103909	Trehalase deficiency			2
HP:0012531	HP:0002027	Abdominal pain	1	TREH CL E G H	11181	12266	OMIM:612119	Trehalase deficiency	.		2
HP:0012531	HP:0002653	Bone pain	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		31
HP:0012531	HP:0002829	Arthralgia	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		31
HP:0012531	HP:0002829	Arthralgia	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0012531	HP:0002829	Arthralgia	1	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1	.		56
HP:0012531	HP:0009763	Limb pain	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.		56
HP:0012531	HP:0002027	Abdominal pain	1	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		2
HP:0012531	HP:0003326	Myalgia	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H			108
HP:0012531	HP:0002027	Abdominal pain	1	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		2
HP:0012531	HP:0003326	Myalgia	1	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0012531	HP:0003326	Myalgia	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040283 - Occasional
HP:0012531	HP:0003326	Myalgia	1	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0012531	HP:0100749	Chest pain	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040283 - Occasional
HP:0012531	HP:0009763	Limb pain	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0012531	HP:0003326	Myalgia	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040283 - Occasional
HP:0012531	HP:0003326	Myalgia	1	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0012531	HP:0002027	Abdominal pain	1	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		107
HP:0012531	HP:0002027	Abdominal pain	1	TRPM4 CL E G H	54795	17993	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent		124
HP:0012531	HP:0002653	Bone pain	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		171
HP:0012531	HP:0002829	Arthralgia	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	HP:0003584 - Late onset	171
HP:0012531	HP:0031520	Groin pain	1	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040281 - Very frequent		214
HP:0012531	HP:0030838	Hip pain	1	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent		214
HP:0012531	HP:0100749	Chest pain	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040281 - Very frequent		1090
HP:0012531	HP:0002027	Abdominal pain	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent		1090
HP:0012531	HP:0100749	Chest pain	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040281 - Very frequent		2738
HP:0012531	HP:0002027	Abdominal pain	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent		2738
HP:0012531	HP:0003326	Myalgia	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0012531	HP:0003326	Myalgia	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.		113
HP:0012531	HP:0002027	Abdominal pain	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0012531	HP:0032148	Episodic pain	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0012531	HP:0002027	Abdominal pain	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		138
HP:0012531	HP:0012533	Allodynia	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0012531	HP:0002027	Abdominal pain	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		138
HP:0012531	HP:0002829	Arthralgia	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		22
HP:0012531	HP:0002653	Bone pain	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		22
HP:0012531	HP:0002829	Arthralgia	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0012531	HP:0002027	Abdominal pain	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0012531	HP:0002829	Arthralgia	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0012531	HP:0003326	Myalgia	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0012531	HP:0003326	Myalgia	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0012531	HP:0002829	Arthralgia	1	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type	.		2
HP:0012531	HP:0002027	Abdominal pain	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0012531	HP:0003418	Back pain	1	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele	.		111
HP:0012531	HP:0003418	Back pain	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040283 - Occasional		63
HP:0012531	HP:0003326	Myalgia	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent		63
HP:0012531	HP:0003418	Back 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:0012531	HP:0030838	Hip 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:0012531	HP:0030838	Hip pain	1	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:0012531	HP:0002829	Arthralgia	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040281 - Very frequent		63
HP:0012531	HP:0002653	Bone pain	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040281 - Very frequent		63
HP:0012531	HP:0002653	Bone pain	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040281 - Very frequent		104
HP:0012531	HP:0002653	Bone pain	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0012531	HP:0032148	Episodic pain	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0012531	HP:0100749	Chest pain	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		490
HP:0012531	HP:0002027	Abdominal pain	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0012531	HP:0100749	Chest pain	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		490
HP:0012531	HP:0032148	Episodic pain	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0012531	HP:0002027	Abdominal pain	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0012531	HP:0009763	Limb pain	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0012531	HP:0002027	Abdominal pain	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0012531	HP:0003418	Back pain	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0012531	HP:0002027	Abdominal pain	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012531	HP:0002829	Arthralgia	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0012531	HP:0046506	Pain in head and neck region	1	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0012531	HP:0003326	Myalgia	1	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0012531	HP:0100749	Chest pain	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional		65
HP:0012531	HP:0100749	Chest pain	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional		6
HP:0012531	HP:0002653	Bone pain	1	WNT1 CL E G H	7471	12774	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040281 - Very frequent		12
HP:0012531	HP:0002653	Bone pain	1	WNT3A CL E G H	89780	15983	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040281 - Very frequent
HP:0012531	HP:0003418	Back pain	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0012531	HP:0002027	Abdominal pain	1	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040281 - Very frequent		177
HP:0012531	HP:0002027	Abdominal pain	1	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		177
HP:0012531	HP:0002027	Abdominal pain	1	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		177
HP:0012531	HP:0100749	Chest pain	1	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040282 - Frequent		149
HP:0012531	HP:0002829	Arthralgia	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		34
HP:0012531	HP:0002829	Arthralgia	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		86
HP:0012531	HP:0002653	Bone pain	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		1
HP:0012531	HP:0002027	Abdominal pain	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		1
HP:0012531	HP:0046506	Pain in head and neck region	1	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0012531	HP:0046506	Pain in head and neck region	1	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0012531	HP:0030838	Hip pain	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0012531	HP:0003326	Myalgia	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		397
HP:0012531	HP:0002653	Bone pain	1	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6	.		2
HP:0012531	HP:0002027	Abdominal pain	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0012531	HP:0033771	Pleuritic chest pain	2	CL E G H
HP:0012531	HP:0012318	Occipital neuralgia	2	CL E G H
HP:0012531	HP:0033746	Intrascapular pain	2	CL E G H
HP:0012531	HP:0011868	Sciatica	2	CL E G H
HP:0012531	HP:0033400	Acute abdomen	2	CL E G H
HP:0012531	HP:0032546	Abdominal guarding	2	CL E G H
HP:0012531	HP:0005059	Arthralgia/arthritis	2	CL E G H
HP:0012531	HP:0032150	Paroxysmal rectal pain	2	CL E G H
HP:0012531	HP:0032149	Breakthrough pain	2	CL E G H
HP:0012531	HP:0011848	Abdominal colic	2	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040281 - Very frequent		111
HP:0012531	HP:0003738	Exercise-induced myalgia	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		197
HP:0012531	HP:0003738	Exercise-induced myalgia	2	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency	.		200
HP:0012531	HP:0012514	Lower limb pain	2	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional		16
HP:0012531	HP:0200026	Ocular pain	2	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0012531	HP:0100661	Trigeminal neuralgia	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0012531	HP:0030766	Ear pain	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare		54
HP:0012531	HP:0011848	Abdominal colic	2	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic	.		62
HP:0012531	HP:0003419	Low back pain	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		89
HP:0012531	HP:0012514	Lower limb pain	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		89
HP:0012531	HP:0003738	Exercise-induced myalgia	2	AMPD1 CL E G H	270	468	ORPHA:45	Adenosine monophosphate deaminase deficiency	HP:0040281 - Very frequent		62
HP:0012531	HP:0003738	Exercise-induced myalgia	2	AMPD1 CL E G H	270	468	OMIM:615511	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD			62
HP:0012531	HP:0003738	Exercise-induced myalgia	2	AMPD3 CL E G H	272	470	ORPHA:45	Adenosine monophosphate deaminase deficiency	HP:0040281 - Very frequent		65
HP:0012531	HP:0003738	Exercise-induced myalgia	2	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent		304
HP:0012531	HP:0003419	Low back pain	2	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0012531	HP:0011848	Abdominal colic	2	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional		19
HP:0012531	HP:0032155	Abdominal cramps	2	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		145
HP:0012531	HP:0012514	Lower limb pain	2	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040281 - Very frequent
HP:0012531	HP:0002574	Episodic abdominal pain	2	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent		169
HP:0012531	HP:0012513	Upper limb pain	2	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis			8
HP:0012531	HP:0012514	Lower limb pain	2	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis			8
HP:0012531	HP:0100661	Trigeminal neuralgia	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0012531	HP:0030766	Ear pain	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare		184
HP:0012531	HP:0200026	Ocular pain	2	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare		184
HP:0012531	HP:0003738	Exercise-induced myalgia	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		99
HP:0012531	HP:0012514	Lower limb pain	2	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17			105
HP:0012531	HP:0003738	Exercise-induced myalgia	2	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease	.		148
HP:0012531	HP:0032155	Abdominal cramps	2	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		317
HP:0012531	HP:0002574	Episodic abdominal pain	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040283 - Occasional		169
HP:0012531	HP:0002574	Episodic abdominal pain	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040283 - Occasional		169
HP:0012531	HP:0002574	Episodic abdominal pain	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent		102
HP:0012531	HP:0031921	Gastrocnemius myalgia	2	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040282 - Frequent		11
HP:0012531	HP:0200026	Ocular pain	2	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy	HP:0040283 - Occasional		129
HP:0012531	HP:0200026	Ocular pain	2	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040281 - Very frequent		129
HP:0012531	HP:0012514	Lower limb pain	2	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0012531	HP:0003419	Low back pain	2	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional		284
HP:0012531	HP:0012514	Lower limb pain	2	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0012531	HP:0410281	Dyspepsia	2	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		678
HP:0012531	HP:0032141	Precordial pain	2	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		678
HP:0012531	HP:0410281	Dyspepsia	2	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		18
HP:0012531	HP:0032141	Precordial pain	2	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		18
HP:0012531	HP:0200026	Ocular pain	2	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0012531	HP:0200026	Ocular pain	2	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		3
HP:0012531	HP:0012514	Lower limb pain	2	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6			110
HP:0012531	HP:0012514	Lower limb pain	2	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0012531	HP:0012514	Lower limb pain	2	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0012531	HP:0012514	Lower limb pain	2	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0012531	HP:0012514	Lower limb pain	2	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0012531	HP:0012514	Lower limb pain	2	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			137
HP:0012531	HP:0012513	Upper limb pain	2	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2			89
HP:0012531	HP:0012514	Lower limb pain	2	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0012531	HP:0012514	Lower limb pain	2	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0012531	HP:0003738	Exercise-induced myalgia	2	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012531	HP:0003738	Exercise-induced myalgia	2	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012531	HP:0003738	Exercise-induced myalgia	2	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040281 - Very frequent		101
HP:0012531	HP:0002574	Episodic abdominal pain	2	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent		101
HP:0012531	HP:0003738	Exercise-induced myalgia	2	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent		101
HP:0012531	HP:0200026	Ocular pain	2	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040282 - Frequent		178
HP:0012531	HP:0200026	Ocular pain	2	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare		1
HP:0012531	HP:0002574	Episodic abdominal pain	2	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent
HP:0012531	HP:0011848	Abdominal colic	2	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type			9
HP:0012531	HP:0030833	Neck pain	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040281 - Very frequent
HP:0012531	HP:0002574	Episodic abdominal pain	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0012531	HP:0003738	Exercise-induced myalgia	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		167
HP:0012531	HP:0002574	Episodic abdominal pain	2	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		44
HP:0012531	HP:0003738	Exercise-induced myalgia	2	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040282 - Frequent		600
HP:0012531	HP:0003738	Exercise-induced myalgia	2	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent		600
HP:0012531	HP:0002574	Episodic abdominal pain	2	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		112
HP:0012531	HP:0002574	Episodic abdominal pain	2	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive	.		12
HP:0012531	HP:0012514	Lower limb pain	2	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040283 - Occasional		2
HP:0012531	HP:0002574	Episodic abdominal pain	2	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040282 - Frequent		13
HP:0012531	HP:0002574	Episodic abdominal pain	2	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0012531	HP:0003419	Low back pain	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		7
HP:0012531	HP:0012514	Lower limb pain	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		7
HP:0012531	HP:0002574	Episodic abdominal pain	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		301
HP:0012531	HP:0012513	Upper limb pain	2	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional		8
HP:0012531	HP:0002574	Episodic abdominal pain	2	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional		8
HP:0012531	HP:0003738	Exercise-induced myalgia	2	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040281 - Very frequent		197
HP:0012531	HP:0012514	Lower limb pain	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0012531	HP:0012514	Lower limb pain	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0012531	HP:0200026	Ocular pain	2	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare		16
HP:0012531	HP:0200026	Ocular pain	2	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare		7
HP:0012531	HP:0002574	Episodic abdominal pain	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0012531	HP:0200026	Ocular pain	2	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		33
HP:0012531	HP:0012514	Lower limb pain	2	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0012531	HP:0002574	Episodic abdominal pain	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.		80
HP:0012531	HP:0003419	Low back pain	2	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria			77
HP:0012531	HP:0030833	Neck pain	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040282 - Frequent		81
HP:0012531	HP:0003738	Exercise-induced 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:0012531	HP:0003419	Low back pain	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.		34
HP:0012531	HP:0030833	Neck pain	2	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0012531	HP:0012514	Lower limb pain	2	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0012531	HP:0012514	Lower limb pain	2	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0012531	HP:0012513	Upper limb pain	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0012531	HP:0002574	Episodic abdominal pain	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		202
HP:0012531	HP:0012513	Upper limb pain	2	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040282 - Frequent		110
HP:0012531	HP:0012514	Lower limb pain	2	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0012531	HP:0030766	Ear pain	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		27
HP:0012531	HP:0012514	Lower limb pain	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent		27
HP:0012531	HP:0030766	Ear pain	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		23
HP:0012531	HP:0012514	Lower limb pain	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent		23
HP:0012531	HP:0012514	Lower limb pain	2	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0012531	HP:0012513	Upper limb pain	2	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040282 - Frequent		173
HP:0012531	HP:0012514	Lower limb pain	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent		41
HP:0012531	HP:0030766	Ear pain	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		41
HP:0012531	HP:0012514	Lower limb pain	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent		4
HP:0012531	HP:0030766	Ear pain	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		4
HP:0012531	HP:0003738	Exercise-induced myalgia	2	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040282 - Frequent		35
HP:0012531	HP:0012514	Lower limb pain	2	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0012531	HP:0003738	Exercise-induced myalgia	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040283 - Occasional		645
HP:0012531	HP:0012514	Lower limb pain	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0012531	HP:0003738	Exercise-induced myalgia	2	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0012531	HP:0002574	Episodic abdominal pain	2	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.		106
HP:0012531	HP:0012514	Lower limb pain	2	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0012531	HP:0012513	Upper limb pain	2	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0012531	HP:0012514	Lower limb pain	2	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0012531	HP:0003738	Exercise-induced myalgia	2	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent		80
HP:0012531	HP:0002574	Episodic abdominal pain	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		84
HP:0012531	HP:0002574	Episodic abdominal pain	2	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		94
HP:0012531	HP:0002574	Episodic abdominal pain	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		4
HP:0012531	HP:0002574	Episodic abdominal pain	2	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0012531	HP:0012513	Upper limb pain	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional		203
HP:0012531	HP:0012514	Lower limb pain	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0012531	HP:0003738	Exercise-induced myalgia	2	MLIP CL E G H	90523	21355	OMIM:620138
HP:0012531	HP:0012514	Lower limb pain	2	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0012531	HP:0002574	Episodic abdominal pain	2	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		26
HP:0012531	HP:0003738	Exercise-induced myalgia	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		7
HP:0012531	HP:0003738	Exercise-induced myalgia	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		19
HP:0012531	HP:0003419	Low back pain	2	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0012531	HP:0002574	Episodic abdominal pain	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		1952
HP:0012531	HP:0030766	Ear pain	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare		220
HP:0012531	HP:0100661	Trigeminal neuralgia	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0012531	HP:0012514	Lower limb pain	2	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0012531	HP:0002574	Episodic abdominal pain	2	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		13
HP:0012531	HP:0030811	Tongue pain	2	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional		97
HP:0012531	HP:0200026	Ocular pain	2	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		4
HP:0012531	HP:0100661	Trigeminal neuralgia	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0012531	HP:0030766	Ear pain	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare		9
HP:0012531	HP:0003738	Exercise-induced myalgia	2	PGAM2 CL E G H	5224	8889	OMIM:261670	Phosphoglycerate mutase, muscle, deficiency of	.		26
HP:0012531	HP:0003738	Exercise-induced myalgia	2	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040282 - Frequent		21
HP:0012531	HP:0003738	Exercise-induced myalgia	2	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked	.		54
HP:0012531	HP:0002574	Episodic abdominal pain	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent		46
HP:0012531	HP:0100661	Trigeminal neuralgia	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0012531	HP:0030766	Ear pain	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare		162
HP:0012531	HP:0032545	Abdominal rigidity	2	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional		563
HP:0012531	HP:0032141	Precordial pain	2	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent		65
HP:0012531	HP:0002574	Episodic abdominal pain	2	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040283 - Occasional		60
HP:0012531	HP:0032155	Abdominal cramps	2	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0012531	HP:0012514	Lower limb pain	2	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.		37
HP:0012531	HP:0012514	Lower limb pain	2	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040282 - Frequent		37
HP:0012531	HP:0100661	Trigeminal neuralgia	2	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040283 - Occasional		69
HP:0012531	HP:0003738	Exercise-induced myalgia	2	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040283 - Occasional		166
HP:0012531	HP:0003738	Exercise-induced myalgia	2	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V			166
HP:0012531	HP:0030833	Neck pain	2	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional		88
HP:0012531	HP:0012514	Lower limb pain	2	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional		88
HP:0012531	HP:0002574	Episodic abdominal pain	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		572
HP:0012531	HP:0002574	Episodic abdominal pain	2	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		572
HP:0012531	HP:0003738	Exercise-induced 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:0012531	HP:0003738	Exercise-induced 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:0012531	HP:0032155	Abdominal cramps	2	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		181
HP:0012531	HP:0003738	Exercise-induced myalgia	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0012531	HP:0003738	Exercise-induced myalgia	2	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0012531	HP:0003738	Exercise-induced myalgia	2	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.		1200
HP:0012531	HP:0200026	Ocular pain	2	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder	.		318
HP:0012531	HP:0002574	Episodic abdominal pain	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		304
HP:0012531	HP:0002574	Episodic abdominal pain	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		55
HP:0012531	HP:0002574	Episodic abdominal pain	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		237
HP:0012531	HP:0002574	Episodic abdominal pain	2	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		237
HP:0012531	HP:0002574	Episodic abdominal pain	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		147
HP:0012531	HP:0002574	Episodic abdominal pain	2	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040282 - Frequent		129
HP:0012531	HP:0002574	Episodic abdominal pain	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		129
HP:0012531	HP:0002574	Episodic abdominal pain	2	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		129
HP:0012531	HP:0200026	Ocular pain	2	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare		19
HP:0012531	HP:0100661	Trigeminal neuralgia	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040284 - Very rare		493
HP:0012531	HP:0011848	Abdominal colic	2	SI CL E G H	6476	10856	ORPHA:35122	Congenital sucrase-isomaltase deficiency	HP:0040283 - Occasional		98
HP:0012531	HP:0002574	Episodic abdominal pain	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0012531	HP:0200026	Ocular pain	2	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	HP:0040284 - Very rare		5
HP:0012531	HP:0200026	Ocular pain	2	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0012531	HP:0012514	Lower limb pain	2	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant			13
HP:0012531	HP:0012514	Lower limb pain	2	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2			13
HP:0012531	HP:0030766	Ear pain	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare		87
HP:0012531	HP:0100661	Trigeminal neuralgia	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0012531	HP:0030766	Ear pain	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare		47
HP:0012531	HP:0100661	Trigeminal neuralgia	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0012531	HP:0030766	Ear pain	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare		22
HP:0012531	HP:0100661	Trigeminal neuralgia	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0012531	HP:0003419	Low back pain	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0012531	HP:0012514	Lower limb pain	2	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040284 - Very rare		171
HP:0012531	HP:0032155	Abdominal cramps	2	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		1
HP:0012531	HP:0002574	Episodic abdominal pain	2	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		45
HP:0012531	HP:0003419	Low back pain	2	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare		1
HP:0012531	HP:0003738	Exercise-induced myalgia	2	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.		31
HP:0012531	HP:0100661	Trigeminal neuralgia	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0012531	HP:0030766	Ear pain	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare		124
HP:0012531	HP:0003419	Low back pain	2	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5	.		19
HP:0012531	HP:0200026	Ocular pain	2	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0012531	HP:0100661	Trigeminal neuralgia	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0012531	HP:0030766	Ear pain	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare		238
HP:0012531	HP:0032155	Abdominal cramps	2	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		3
HP:0012531	HP:0012514	Lower limb pain	2	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0012531	HP:0200026	Ocular pain	2	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I			58
HP:0012531	HP:0200026	Ocular pain	2	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040282 - Frequent		58
HP:0012531	HP:0200026	Ocular pain	2	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy	HP:0040282 - Frequent		58
HP:0012531	HP:0002574	Episodic abdominal pain	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		131
HP:0012531	HP:0030833	Neck pain	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0012531	HP:0012514	Lower limb pain	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0012531	HP:0100661	Trigeminal neuralgia	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0012531	HP:0030766	Ear pain	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0012531	HP:0012514	Lower limb pain	2	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0012531	HP:0003738	Exercise-induced myalgia	2	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.		108
HP:0012531	HP:0012514	Lower limb pain	2	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040282 - Frequent
HP:0012531	HP:0002574	Episodic abdominal pain	2	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		85
HP:0012531	HP:0032155	Abdominal cramps	2	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0012531	HP:0002574	Episodic abdominal pain	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		490
HP:0012531	HP:0002574	Episodic abdominal pain	2	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		490
HP:0012531	HP:0200026	Ocular pain	2	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		47
HP:0012531	HP:0003419	Low back pain	2	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0012531	HP:0200026	Ocular pain	2	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0012531	HP:0200026	Ocular pain	2	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		8
HP:0012531	HP:0030841	Toe pain	3	CL E G H
HP:0012531	HP:0030835	Elbow pain	3	CL E G H
HP:0012531	HP:0030857	Eye movement-induced pain	3	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0012531	HP:0030836	Wrist pain	3	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional		8
HP:0012531	HP:0030839	Knee pain	3	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional		8
HP:0012531	HP:0030839	Knee pain	3	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040283 - Occasional		105
HP:0012531	HP:0030839	Knee pain	3	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent		284
HP:0012531	HP:0030839	Knee pain	3	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional		284
HP:0012531	HP:0030857	Eye movement-induced pain	3	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0012531	HP:0030839	Knee pain	3	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6			110
HP:0012531	HP:0030839	Knee pain	3	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent		110
HP:0012531	HP:0030839	Knee pain	3	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0012531	HP:0025238	Foot pain	3	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0012531	HP:0030839	Knee pain	3	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent		110
HP:0012531	HP:0030839	Knee pain	3	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0012531	HP:0030839	Knee pain	3	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent		137
HP:0012531	HP:0046505	Hand pain	3	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2			89
HP:0012531	HP:0030840	Ankle pain	3	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0012531	HP:0030839	Knee pain	3	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040282 - Frequent		89
HP:0012531	HP:0030840	Ankle pain	3	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040283 - Occasional		89
HP:0012531	HP:0030839	Knee pain	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0012531	HP:0030839	Knee pain	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0012531	HP:0030839	Knee pain	3	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0012531	HP:0030840	Ankle pain	3	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0012531	HP:0046505	Hand pain	3	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0012531	HP:0025238	Foot pain	3	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent		110
HP:0012531	HP:0025238	Foot pain	3	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent		173
HP:0012531	HP:0030840	Ankle pain	3	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0012531	HP:0030839	Knee pain	3	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0012531	HP:0030836	Wrist pain	3	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0012531	HP:0030840	Ankle pain	3	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0012531	HP:0030839	Knee pain	3	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040282 - Frequent		32
HP:0012531	HP:0030840	Ankle pain	3	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040283 - Occasional		32
HP:0012531	HP:0025238	Foot pain	3	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent		203
HP:0012531	HP:0030857	Eye movement-induced pain	3	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0012531	HP:0030839	Knee pain	3	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant			13
HP:0012531	HP:0030839	Knee pain	3	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2			13
HP:0012531	HP:0030857	Eye movement-induced pain	3	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0012531	HP:0030839	Knee pain	3	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0012531	HP:0030839	Knee pain	3	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent		46
HP:0012531	HP:0030857	Eye movement-induced pain	3	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0012531	HP:0032102	Wilson sign	4	CL E G H
HP:0012531	HP:0030837	Finger pain	4	CL E G H