Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of body weight (HP:0004323)

Parent Node:
Decreased body weight (HP:0004325)

..Starting node
..Weight loss (HP:0001824)

Term ID:

1824

Name:

Weight loss

Synonym:

Loss of weight

Definition:

Reduction of total body weight.

Comments:

Reference:

HP:0001824

Genes and Diseases:

Child Nodes:

........

Cachexia (HP:0004326)

Sister Nodes:

Decreased body mass index (HP:0045082)

Eunuchoid habitus (HP:0003782)

Failure to thrive (HP:0001508)

Slender build (HP:0001533)

Small for gestational age (HP:0001518)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001824	HP:0001824	Weight loss	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	245
HP:0001824	HP:0001824	Weight loss	0	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent	135
HP:0001824	HP:0001824	Weight loss	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0001824	HP:0001824	Weight loss	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional	91
HP:0001824	HP:0001824	Weight loss	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	96
HP:0001824	HP:0001824	Weight loss	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040282 - Frequent	19
HP:0001824	HP:0001824	Weight loss	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0001824	HP:0001824	Weight loss	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0001824	HP:0001824	Weight loss	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional	25
HP:0001824	HP:0001824	Weight loss	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001824	HP:0001824	Weight loss	0	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0001824	HP:0001824	Weight loss	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0001824	HP:0001824	Weight loss	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0001824	HP:0001824	Weight loss	0	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent	3267
HP:0001824	HP:0001824	Weight loss	0	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent	192
HP:0001824	HP:0001824	Weight loss	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent	315
HP:0001824	HP:0001824	Weight loss	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome		168
HP:0001824	HP:0001824	Weight loss	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome		1
HP:0001824	HP:0001824	Weight loss	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent	169
HP:0001824	HP:0001824	Weight loss	0	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus	HP:0040282 - Frequent	22
HP:0001824	HP:0001824	Weight loss	0	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma	HP:0040282 - Frequent	184
HP:0001824	HP:0001824	Weight loss	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	18
HP:0001824	HP:0001824	Weight loss	0	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent	1
HP:0001824	HP:0001824	Weight loss	0	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent	1
HP:0001824	HP:0001824	Weight loss	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0001824	HP:0001824	Weight loss	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent
HP:0001824	HP:0001824	Weight loss	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0001824	HP:0001824	Weight loss	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	385
HP:0001824	HP:0001824	Weight loss	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0001824	HP:0001824	Weight loss	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	5769
HP:0001824	HP:0001824	Weight loss	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0001824	HP:0001824	Weight loss	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	7642
HP:0001824	HP:0001824	Weight loss	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0001824	HP:0001824	Weight loss	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	7642
HP:0001824	HP:0001824	Weight loss	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0001824	HP:0001824	Weight loss	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040283 - Occasional	109
HP:0001824	HP:0001824	Weight loss	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	1
HP:0001824	HP:0001824	Weight loss	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001824	HP:0001824	Weight loss	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent	247
HP:0001824	HP:0001824	Weight loss	0	CACNA1S CL E G H	779	1397	OMIM:188580	Thyrotoxic periodic paralysis, susceptibility to, 1	.	247
HP:0001824	HP:0001824	Weight loss	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	1
HP:0001824	HP:0001824	Weight loss	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis		1
HP:0001824	HP:0001824	Weight loss	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0001824	HP:0001824	Weight loss	0	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent	1
HP:0001824	HP:0001824	Weight loss	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040283 - Occasional	1
HP:0001824	HP:0001824	Weight loss	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001824	HP:0001824	Weight loss	0	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0001824	HP:0001824	Weight loss	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	8
HP:0001824	HP:0001824	Weight loss	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent	169
HP:0001824	HP:0001824	Weight loss	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0001824	HP:0001824	Weight loss	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	2
HP:0001824	HP:0001824	Weight loss	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	102
HP:0001824	HP:0001824	Weight loss	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0001824	HP:0001824	Weight loss	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	289
HP:0001824	HP:0001824	Weight loss	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	1
HP:0001824	HP:0001824	Weight loss	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0001824	HP:0001824	Weight loss	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome		20
HP:0001824	HP:0001824	Weight loss	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome		161
HP:0001824	HP:0001824	Weight loss	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome		146
HP:0001824	HP:0001824	Weight loss	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis		1371
HP:0001824	HP:0001824	Weight loss	0	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040284 - Very rare	833
HP:0001824	HP:0001824	Weight loss	0	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA		118
HP:0001824	HP:0001824	Weight loss	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3		9
HP:0001824	HP:0001824	Weight loss	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	678
HP:0001824	HP:0001824	Weight loss	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	18
HP:0001824	HP:0001824	Weight loss	0	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent	24
HP:0001824	HP:0001824	Weight loss	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	10
HP:0001824	HP:0001824	Weight loss	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0001824	HP:0001824	Weight loss	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0001824	HP:0001824	Weight loss	0	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis		39
HP:0001824	HP:0001824	Weight loss	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional	273
HP:0001824	HP:0001824	Weight loss	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0001824	HP:0001824	Weight loss	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.	73
HP:0001824	HP:0001824	Weight loss	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent
HP:0001824	HP:0001824	Weight loss	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.	86
HP:0001824	HP:0001824	Weight loss	0	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome	HP:0040281 - Very frequent	86
HP:0001824	HP:0001824	Weight loss	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	164
HP:0001824	HP:0001824	Weight loss	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0001824	HP:0001824	Weight loss	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0001824	HP:0001824	Weight loss	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0001824	HP:0001824	Weight loss	0	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent	13
HP:0001824	HP:0001824	Weight loss	0	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent	67
HP:0001824	HP:0001824	Weight loss	0	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent	55
HP:0001824	HP:0001824	Weight loss	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0001824	HP:0001824	Weight loss	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0001824	HP:0001824	Weight loss	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001824	HP:0001824	Weight loss	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0001824	HP:0001824	Weight loss	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent	170
HP:0001824	HP:0001824	Weight loss	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	170
HP:0001824	HP:0001824	Weight loss	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001824	HP:0001824	Weight loss	0	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent	77
HP:0001824	HP:0001824	Weight loss	0	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent	12
HP:0001824	HP:0001824	Weight loss	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex		106
HP:0001824	HP:0001824	Weight loss	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex		54
HP:0001824	HP:0001824	Weight loss	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0001824	HP:0001824	Weight loss	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex		158
HP:0001824	HP:0001824	Weight loss	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0001824	HP:0001824	Weight loss	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex		83
HP:0001824	HP:0001824	Weight loss	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent
HP:0001824	HP:0001824	Weight loss	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	159
HP:0001824	HP:0001824	Weight loss	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	15
HP:0001824	HP:0001824	Weight loss	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0001824	HP:0001824	Weight loss	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0001824	HP:0001824	Weight loss	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0001824	HP:0001824	Weight loss	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0001824	HP:0001824	Weight loss	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001824	HP:0001824	Weight loss	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0001824	HP:0001824	Weight loss	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001824	HP:0001824	Weight loss	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0001824	HP:0001824	Weight loss	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0001824	HP:0001824	Weight loss	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0001824	HP:0001824	Weight loss	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0001824	HP:0001824	Weight loss	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0001824	HP:0001824	Weight loss	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0001824	HP:0001824	Weight loss	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional	8
HP:0001824	HP:0001824	Weight loss	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	184
HP:0001824	HP:0001824	Weight loss	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0001824	HP:0001824	Weight loss	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0001824	HP:0001824	Weight loss	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent
HP:0001824	HP:0001824	Weight loss	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0001824	HP:0001824	Weight loss	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040282 - Frequent	137
HP:0001824	HP:0001824	Weight loss	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent	87
HP:0001824	HP:0001824	Weight loss	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0001824	HP:0001824	Weight loss	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001824	HP:0001824	Weight loss	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0001824	HP:0001824	Weight loss	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	237
HP:0001824	HP:0001824	Weight loss	0	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent	59
HP:0001824	HP:0001824	Weight loss	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I		188
HP:0001824	HP:0001824	Weight loss	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0001824	HP:0001824	Weight loss	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040281 - Very frequent
HP:0001824	HP:0001824	Weight loss	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	68
HP:0001824	HP:0001824	Weight loss	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	74
HP:0001824	HP:0001824	Weight loss	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	12
HP:0001824	HP:0001824	Weight loss	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0001824	HP:0001824	Weight loss	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	73
HP:0001824	HP:0001824	Weight loss	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0001824	HP:0001824	Weight loss	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	4
HP:0001824	HP:0001824	Weight loss	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0001824	HP:0001824	Weight loss	0	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040282 - Frequent
HP:0001824	HP:0001824	Weight loss	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional	38
HP:0001824	HP:0001824	Weight loss	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0001824	HP:0001824	Weight loss	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	4
HP:0001824	HP:0001824	Weight loss	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040283 - Occasional	4
HP:0001824	HP:0001824	Weight loss	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent	4
HP:0001824	HP:0001824	Weight loss	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	4
HP:0001824	HP:0001824	Weight loss	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0001824	HP:0001824	Weight loss	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent	1
HP:0001824	HP:0001824	Weight loss	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	1
HP:0001824	HP:0001824	Weight loss	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001824	HP:0001824	Weight loss	0	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent
HP:0001824	HP:0001824	Weight loss	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent
HP:0001824	HP:0001824	Weight loss	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001824	HP:0001824	Weight loss	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent
HP:0001824	HP:0001824	Weight loss	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040284 - Very rare	2
HP:0001824	HP:0001824	Weight loss	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent	2
HP:0001824	HP:0001824	Weight loss	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent	2
HP:0001824	HP:0001824	Weight loss	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	2
HP:0001824	HP:0001824	Weight loss	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	2
HP:0001824	HP:0001824	Weight loss	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2
HP:0001824	HP:0001824	Weight loss	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040281 - Very frequent	148
HP:0001824	HP:0001824	Weight loss	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional	35
HP:0001824	HP:0001824	Weight loss	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0001824	HP:0001824	Weight loss	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent	12
HP:0001824	HP:0001824	Weight loss	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040282 - Frequent	12
HP:0001824	HP:0001824	Weight loss	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0001824	HP:0001824	Weight loss	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0001824	HP:0001824	Weight loss	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0001824	HP:0001824	Weight loss	0	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent	7
HP:0001824	HP:0001824	Weight loss	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	7
HP:0001824	HP:0001824	Weight loss	0	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent	7
HP:0001824	HP:0001824	Weight loss	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent	8
HP:0001824	HP:0001824	Weight loss	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001824	HP:0001824	Weight loss	0	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0001824	HP:0001824	Weight loss	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001824	HP:0001824	Weight loss	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001824	HP:0001824	Weight loss	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	31
HP:0001824	HP:0001824	Weight loss	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001824	HP:0001824	Weight loss	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	65
HP:0001824	HP:0001824	Weight loss	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001824	HP:0001824	Weight loss	0	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	2
HP:0001824	HP:0001824	Weight loss	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	62
HP:0001824	HP:0001824	Weight loss	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0001824	HP:0001824	Weight loss	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease		1
HP:0001824	HP:0001824	Weight loss	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	127
HP:0001824	HP:0001824	Weight loss	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	57
HP:0001824	HP:0001824	Weight loss	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	57
HP:0001824	HP:0001824	Weight loss	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	57
HP:0001824	HP:0001824	Weight loss	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis		57
HP:0001824	HP:0001824	Weight loss	0	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2	HP:0040283 - Occasional	2
HP:0001824	HP:0001824	Weight loss	0	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2	.	2
HP:0001824	HP:0001824	Weight loss	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	127
HP:0001824	HP:0001824	Weight loss	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent	10
HP:0001824	HP:0001824	Weight loss	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2	.	10
HP:0001824	HP:0001824	Weight loss	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	4
HP:0001824	HP:0001824	Weight loss	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0001824	HP:0001824	Weight loss	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0001824	HP:0001824	Weight loss	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0001824	HP:0001824	Weight loss	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0001824	HP:0001824	Weight loss	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001824	HP:0001824	Weight loss	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	196
HP:0001824	HP:0001824	Weight loss	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	196
HP:0001824	HP:0001824	Weight loss	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040281 - Very frequent	100
HP:0001824	HP:0001824	Weight loss	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040281 - Very frequent	45
HP:0001824	HP:0001824	Weight loss	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	1
HP:0001824	HP:0001824	Weight loss	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease		73
HP:0001824	HP:0001824	Weight loss	0	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation		645
HP:0001824	HP:0001824	Weight loss	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	645
HP:0001824	HP:0001824	Weight loss	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent	186
HP:0001824	HP:0001824	Weight loss	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0001824	HP:0001824	Weight loss	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0001824	HP:0001824	Weight loss	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0001824	HP:0001824	Weight loss	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy		63
HP:0001824	HP:0001824	Weight loss	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	6
HP:0001824	HP:0001824	Weight loss	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0001824	HP:0001824	Weight loss	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0001824	HP:0001824	Weight loss	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	94
HP:0001824	HP:0001824	Weight loss	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0001824	HP:0001824	Weight loss	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome		950
HP:0001824	HP:0001824	Weight loss	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0001824	HP:0001824	Weight loss	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	462
HP:0001824	HP:0001824	Weight loss	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1819
HP:0001824	HP:0001824	Weight loss	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	131
HP:0001824	HP:0001824	Weight loss	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent
HP:0001824	HP:0001824	Weight loss	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	97
HP:0001824	HP:0001824	Weight loss	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	97
HP:0001824	HP:0001824	Weight loss	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis		97
HP:0001824	HP:0001824	Weight loss	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	26
HP:0001824	HP:0001824	Weight loss	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2162
HP:0001824	HP:0001824	Weight loss	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2232
HP:0001824	HP:0001824	Weight loss	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0001824	HP:0001824	Weight loss	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	131
HP:0001824	HP:0001824	Weight loss	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040283 - Occasional
HP:0001824	HP:0001824	Weight loss	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0001824	HP:0001824	Weight loss	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		48
HP:0001824	HP:0001824	Weight loss	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0001824	HP:0001824	Weight loss	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease		39
HP:0001824	HP:0001824	Weight loss	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	39
HP:0001824	HP:0001824	Weight loss	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0001824	HP:0001824	Weight loss	0	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA		1
HP:0001824	HP:0001824	Weight loss	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	13
HP:0001824	HP:0001824	Weight loss	0	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	187
HP:0001824	HP:0001824	Weight loss	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0001824	HP:0001824	Weight loss	0	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent	2
HP:0001824	HP:0001824	Weight loss	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040281 - Very frequent
HP:0001824	HP:0001824	Weight loss	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0001824	HP:0001824	Weight loss	0	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent	4
HP:0001824	HP:0001824	Weight loss	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0001824	HP:0001824	Weight loss	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0001824	HP:0001824	Weight loss	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	3
HP:0001824	HP:0001824	Weight loss	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	1349
HP:0001824	HP:0001824	Weight loss	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0001824	HP:0001824	Weight loss	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	192
HP:0001824	HP:0001824	Weight loss	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040283 - Occasional	55
HP:0001824	HP:0001824	Weight loss	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome		531
HP:0001824	HP:0001824	Weight loss	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	30
HP:0001824	HP:0001824	Weight loss	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent
HP:0001824	HP:0001824	Weight loss	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	162
HP:0001824	HP:0001824	Weight loss	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent	43
HP:0001824	HP:0001824	Weight loss	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional	563
HP:0001824	HP:0001824	Weight loss	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome		11
HP:0001824	HP:0001824	Weight loss	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0001824	HP:0001824	Weight loss	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	56
HP:0001824	HP:0001824	Weight loss	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1121
HP:0001824	HP:0001824	Weight loss	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0001824	HP:0001824	Weight loss	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.	464
HP:0001824	HP:0001824	Weight loss	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	464
HP:0001824	HP:0001824	Weight loss	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0001824	HP:0001824	Weight loss	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0001824	HP:0001824	Weight loss	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0001824	HP:0001824	Weight loss	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0001824	HP:0001824	Weight loss	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.	69
HP:0001824	HP:0001824	Weight loss	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	69
HP:0001824	HP:0001824	Weight loss	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional	69
HP:0001824	HP:0001824	Weight loss	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0001824	HP:0001824	Weight loss	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease		81
HP:0001824	HP:0001824	Weight loss	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0001824	HP:0001824	Weight loss	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0001824	HP:0001824	Weight loss	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0001824	HP:0001824	Weight loss	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001824	HP:0001824	Weight loss	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	3
HP:0001824	HP:0001824	Weight loss	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	3
HP:0001824	HP:0001824	Weight loss	0	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0001824	HP:0001824	Weight loss	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	3
HP:0001824	HP:0001824	Weight loss	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent
HP:0001824	HP:0001824	Weight loss	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0001824	HP:0001824	Weight loss	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0001824	HP:0001824	Weight loss	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0001824	HP:0001824	Weight loss	0	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040284 - Very rare	365
HP:0001824	HP:0001824	Weight loss	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome		68
HP:0001824	HP:0001824	Weight loss	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	7
HP:0001824	HP:0001824	Weight loss	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0001824	HP:0001824	Weight loss	0	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent	572
HP:0001824	HP:0001824	Weight loss	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0001824	HP:0001824	Weight loss	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001824	HP:0001824	Weight loss	0	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	HP:0040282 - Frequent	80
HP:0001824	HP:0001824	Weight loss	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0001824	HP:0001824	Weight loss	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001824	HP:0001824	Weight loss	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	1
HP:0001824	HP:0001824	Weight loss	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.	125
HP:0001824	HP:0001824	Weight loss	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	125
HP:0001824	HP:0001824	Weight loss	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0001824	HP:0001824	Weight loss	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional	67
HP:0001824	HP:0001824	Weight loss	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis		67
HP:0001824	HP:0001824	Weight loss	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional	61
HP:0001824	HP:0001824	Weight loss	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis		61
HP:0001824	HP:0001824	Weight loss	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional	57
HP:0001824	HP:0001824	Weight loss	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis		57
HP:0001824	HP:0001824	Weight loss	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0001824	HP:0001824	Weight loss	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	304
HP:0001824	HP:0001824	Weight loss	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	16
HP:0001824	HP:0001824	Weight loss	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0001824	HP:0001824	Weight loss	0	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	237
HP:0001824	HP:0001824	Weight loss	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0001824	HP:0001824	Weight loss	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	237
HP:0001824	HP:0001824	Weight loss	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0001824	HP:0001824	Weight loss	0	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	147
HP:0001824	HP:0001824	Weight loss	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0001824	HP:0001824	Weight loss	0	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	129
HP:0001824	HP:0001824	Weight loss	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0001824	HP:0001824	Weight loss	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	129
HP:0001824	HP:0001824	Weight loss	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0001824	HP:0001824	Weight loss	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	144
HP:0001824	HP:0001824	Weight loss	0	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent	1
HP:0001824	HP:0001824	Weight loss	0	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent	2
HP:0001824	HP:0001824	Weight loss	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	48
HP:0001824	HP:0001824	Weight loss	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0001824	HP:0001824	Weight loss	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0001824	HP:0001824	Weight loss	0	SLC11A1 CL E G H	6556	10907	ORPHA:3389	Tuberculosis	HP:0040282 - Frequent	2
HP:0001824	HP:0001824	Weight loss	0	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0001824	HP:0001824	Weight loss	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0001824	HP:0001824	Weight loss	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent	1
HP:0001824	HP:0001824	Weight loss	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	47
HP:0001824	HP:0001824	Weight loss	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional	7
HP:0001824	HP:0001824	Weight loss	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040283 - Occasional	55
HP:0001824	HP:0001824	Weight loss	0	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption	HP:0040281 - Very frequent	74
HP:0001824	HP:0001824	Weight loss	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency		122
HP:0001824	HP:0001824	Weight loss	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome		93
HP:0001824	HP:0001824	Weight loss	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0001824	HP:0001824	Weight loss	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	504
HP:0001824	HP:0001824	Weight loss	0	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent	22
HP:0001824	HP:0001824	Weight loss	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0001824	HP:0001824	Weight loss	0	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4	.	65
HP:0001824	HP:0001824	Weight loss	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0001824	HP:0001824	Weight loss	0	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis		34
HP:0001824	HP:0001824	Weight loss	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0001824	HP:0001824	Weight loss	0	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent	1
HP:0001824	HP:0001824	Weight loss	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0001824	HP:0001824	Weight loss	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0001824	HP:0001824	Weight loss	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	45
HP:0001824	HP:0001824	Weight loss	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0001824	HP:0001824	Weight loss	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0001824	HP:0001824	Weight loss	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	110
HP:0001824	HP:0001824	Weight loss	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001824	HP:0001824	Weight loss	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	2
HP:0001824	HP:0001824	Weight loss	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0001824	HP:0001824	Weight loss	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040283 - Occasional	1
HP:0001824	HP:0001824	Weight loss	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0001824	HP:0001824	Weight loss	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria		66
HP:0001824	HP:0001824	Weight loss	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001824	HP:0001824	Weight loss	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0001824	HP:0001824	Weight loss	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241
HP:0001824	HP:0001824	Weight loss	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0001824	HP:0001824	Weight loss	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0001824	HP:0001824	Weight loss	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	3
HP:0001824	HP:0001824	Weight loss	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis		3
HP:0001824	HP:0001824	Weight loss	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0001824	HP:0001824	Weight loss	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease		13
HP:0001824	HP:0001824	Weight loss	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	253
HP:0001824	HP:0001824	Weight loss	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	23
HP:0001824	HP:0001824	Weight loss	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0001824	HP:0001824	Weight loss	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0001824	HP:0001824	Weight loss	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0001824	HP:0001824	Weight loss	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	911
HP:0001824	HP:0001824	Weight loss	0	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040284 - Very rare	911
HP:0001824	HP:0001824	Weight loss	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	54
HP:0001824	HP:0001824	Weight loss	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	108
HP:0001824	HP:0001824	Weight loss	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome		2
HP:0001824	HP:0001824	Weight loss	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0001824	HP:0001824	Weight loss	0	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism		78
HP:0001824	HP:0001824	Weight loss	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0001824	HP:0001824	Weight loss	0	TRPV4 CL E G H	59341	18083	ORPHA:1216	Autosomal dominant congenital benign spinal muscular atrophy		214
HP:0001824	HP:0001824	Weight loss	0	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism	HP:0040281 - Very frequent	97
HP:0001824	HP:0001824	Weight loss	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040281 - Very frequent	97
HP:0001824	HP:0001824	Weight loss	0	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis	HP:0040282 - Frequent	107
HP:0001824	HP:0001824	Weight loss	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0001824	HP:0001824	Weight loss	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	85
HP:0001824	HP:0001824	Weight loss	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0001824	HP:0001824	Weight loss	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	138
HP:0001824	HP:0001824	Weight loss	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001824	HP:0001824	Weight loss	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0001824	HP:0001824	Weight loss	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001824	HP:0001824	Weight loss	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23
HP:0001824	HP:0001824	Weight loss	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		23
HP:0001824	HP:0001824	Weight loss	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0001824	HP:0001824	Weight loss	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490
HP:0001824	HP:0001824	Weight loss	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0001824	HP:0001824	Weight loss	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	37
HP:0001824	HP:0001824	Weight loss	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent	177
HP:0001824	HP:0001824	Weight loss	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	177
HP:0001824	HP:0001824	Weight loss	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0001824	HP:0001824	Weight loss	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0001824	HP:0001824	Weight loss	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	83
HP:0001824	HP:0001824	Weight loss	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0001824	HP:0004326	Cachexia	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0001824	HP:0004326	Cachexia	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0001824	HP:0004326	Cachexia	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	114
HP:0001824	HP:0004326	Cachexia	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	168
HP:0001824	HP:0004326	Cachexia	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	1
HP:0001824	HP:0004326	Cachexia	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	385
HP:0001824	HP:0004326	Cachexia	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare	1
HP:0001824	HP:0004326	Cachexia	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	20
HP:0001824	HP:0004326	Cachexia	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	161
HP:0001824	HP:0004326	Cachexia	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	146
HP:0001824	HP:0004326	Cachexia	1	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	1371
HP:0001824	HP:0004326	Cachexia	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	9
HP:0001824	HP:0004326	Cachexia	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent	38
HP:0001824	HP:0004326	Cachexia	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	106
HP:0001824	HP:0004326	Cachexia	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	54
HP:0001824	HP:0004326	Cachexia	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	158
HP:0001824	HP:0004326	Cachexia	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0001824	HP:0004326	Cachexia	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	83
HP:0001824	HP:0004326	Cachexia	1	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040283 - Occasional
HP:0001824	HP:0004326	Cachexia	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0001824	HP:0004326	Cachexia	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	105
HP:0001824	HP:0004326	Cachexia	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0001824	HP:0004326	Cachexia	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0001824	HP:0004326	Cachexia	1	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I		188
HP:0001824	HP:0004326	Cachexia	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0001824	HP:0004326	Cachexia	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent	1
HP:0001824	HP:0004326	Cachexia	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare	57
HP:0001824	HP:0004326	Cachexia	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	1
HP:0001824	HP:0004326	Cachexia	1	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040282 - Frequent	73
HP:0001824	HP:0004326	Cachexia	1	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation	HP:0040283 - Occasional	645
HP:0001824	HP:0004326	Cachexia	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent	186
HP:0001824	HP:0004326	Cachexia	1	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040281 - Very frequent	63
HP:0001824	HP:0004326	Cachexia	1	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.	950
HP:0001824	HP:0004326	Cachexia	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare	97
HP:0001824	HP:0004326	Cachexia	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	48
HP:0001824	HP:0004326	Cachexia	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0001824	HP:0004326	Cachexia	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional	39
HP:0001824	HP:0004326	Cachexia	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent
HP:0001824	HP:0004326	Cachexia	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	531
HP:0001824	HP:0004326	Cachexia	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	11
HP:0001824	HP:0004326	Cachexia	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0001824	HP:0004326	Cachexia	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.	464
HP:0001824	HP:0004326	Cachexia	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	464
HP:0001824	HP:0004326	Cachexia	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0001824	HP:0004326	Cachexia	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0001824	HP:0004326	Cachexia	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	948
HP:0001824	HP:0004326	Cachexia	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0001824	HP:0004326	Cachexia	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	68
HP:0001824	HP:0004326	Cachexia	1	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.	125
HP:0001824	HP:0004326	Cachexia	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	125
HP:0001824	HP:0004326	Cachexia	1	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	67
HP:0001824	HP:0004326	Cachexia	1	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	61
HP:0001824	HP:0004326	Cachexia	1	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	57
HP:0001824	HP:0004326	Cachexia	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	6
HP:0001824	HP:0004326	Cachexia	1	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040282 - Frequent	122
HP:0001824	HP:0004326	Cachexia	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040281 - Very frequent	93
HP:0001824	HP:0004326	Cachexia	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	287
HP:0001824	HP:0004326	Cachexia	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	54
HP:0001824	HP:0004326	Cachexia	1	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0001824	HP:0004326	Cachexia	1	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent	66
HP:0001824	HP:0004326	Cachexia	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare	3
HP:0001824	HP:0004326	Cachexia	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040281 - Very frequent	13
HP:0001824	HP:0004326	Cachexia	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	2
HP:0001824	HP:0004326	Cachexia	1	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism	HP:0040281 - Very frequent	78
HP:0001824	HP:0004326	Cachexia	1	TRPV4 CL E G H	59341	18083	ORPHA:1216	Autosomal dominant congenital benign spinal muscular atrophy	HP:0040281 - Very frequent	214
HP:0001824	HP:0004326	Cachexia	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0001824	HP:0004326	Cachexia	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	138
HP:0001824	HP:0004326	Cachexia	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23
HP:0001824	HP:0004326	Cachexia	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	23
HP:0001824	HP:0004326	Cachexia	1	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040283 - Occasional	177

Genes (320) :ABCC8 ABCD1 ACADM ACAT1 ACTA1 AK2 AKT1 ALS2 AMN ANKRD55 ANO1 ASXL1 ATM ATP7A ATP7B ATR ATRIP ATRX AVP BAP1 BCL10 BCL2 BCL6 BCOR BIRC3 BMP6 BMPR1A BRCA1 BRCA2 BRIP1 BTK BTNL2 C4A CACNA1S CALR CBL CCND1 CCR1 CD244 CD247 CDC73 CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CENPE CENPJ CEP152 CFTR CHEK2 CIITA CNTNAP1 COL4A5 COL4A6 CRLF1 CTLA4 CTNNB1 CTNS CTRC CUBN CUL4B CYP24A1 DAXX DCTN1 DIS3L2 DLST DNAJC13 DNMT3A ECE1 EDN3 EDNRB EHHADH EIF4G1 ELF4 EPAS1 EPCAM ERAP1 ERBB2 ERBB3 ERCC2 ERCC3 ERCC4 ERCC5 EWSR1 F5 FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FH FIP1L1 FLI1 FOXP1 FOXP3 FUS GABRA3 GALC GATA2 GATA4 GATM GBA1 GCK GDNF GFAP GIGYF2 GIPC1 GJA1 GJB3 GJB4 GNPTAB GPC3 GPR35 H19 HACD1 HAVCR2 HFE HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLCS HMGCL HSPG2 HTT IFIH1 IFNGR1 IGH IKZF1 IL10 IL12A IL12A-AS1 IL12B IL23R IL2RA IL2RB IL6 INS IRF2BP2 IRF4 ITGA7 JAK2 JPH3 KCNJ11 KCNJ18 KDSR KIF1B KIT KLF1 KLRC4 KRAS KRT1 KRT10 LIG3 LIPA LMNA LPIN2 LRP12 LRRK2 MAD2L2 MAFB MALT1 MAP3K20 MAX MC2R MDH2 MECP2 MEFV MEN1 MLH1 MLH3 MLX MPL MRAP MSH2 MSH6 MST1 MYL2 NAB2 NABP1 NALCN NBN NDP NDUFAF6 NF1 NFKBIL1 NNT NOD2 NOS1 NOTCH2NLC NPM1 NRTN NUMA1 NUP85 P4HA2 PALB2 PALLD PANK2 PCNT PDX1 PERCC1 PIK3CA PIK3R1 PKHD1 PLK4 PML PMS1 PMS2 POLG POU6F2 PRKAR1A PRNP PRTN3 PSAP PTEN PTPN2 PTPN22 RABL3 RAD51 RAD51C RARA RB1 RBBP8 REST RET RFWD3 RHBDF2 RNF168 RNU7-1 RPS20 RRM2B RUNX1 SCNN1A SCNN1B SCNN1G SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SELENON SEMA3C SEMA3D SEMA4A SEMA4D SIGMAR1 SLC11A1 SLC22A4 SLC25A11 SLC2A3 SLC34A1 SLC34A2 SLC39A4 SLC5A1 SLC6A8 SLC9A6 SLX4 SMAD4 SMO SNCA SPG11 SPINK1 SPTLC1 SREBF1 SRSF2 STAR STAT1 STAT3 STAT4 STAT5B STAT6 STUB1 SUCLA2 SYK TBL1XR1 TCF4 TERT TET2 TGFB1 TGFBR2 THPO TLR4 TMEM127 TP53 TPM2 TPM3 TRAIP TRIM28 TRIM37 TRIP13 TRPV4 TSHR TTR TWNK TXNRD2 TYMP UBAC2 UBE2T UNC45A UNC80 VHL VPS13A VPS35 WT1 XRCC2 ZBTB16 ZMPSTE24 ZNRF3

Diseases (152) :ORPHA:99885 ORPHA:388 ORPHA:42 ORPHA:134 ORPHA:2020 ORPHA:33355 ORPHA:744 ORPHA:300605 ORPHA:35858 ORPHA:85408 OMIM:620045 ORPHA:98850 ORPHA:98849 ORPHA:52416 ORPHA:905 ORPHA:808 ORPHA:100075 ORPHA:30925 ORPHA:50251 ORPHA:52417 ORPHA:545 ORPHA:520 ORPHA:465508 ORPHA:440437 ORPHA:79076 ORPHA:1333 ORPHA:84 ORPHA:654 ORPHA:47 ORPHA:797 ORPHA:117 ORPHA:79102 OMIM:188580 ORPHA:131 ORPHA:824 ORPHA:29073 OMIM:180300 ORPHA:143 ORPHA:91347 ORPHA:652 ORPHA:1501 ORPHA:60033 ORPHA:668 OMIM:618186 ORPHA:1018 ORPHA:930 ORPHA:900 OMIM:219800 ORPHA:103918 ORPHA:85293 OMIM:143880 OMIM:168605 ORPHA:178509 ORPHA:29072 ORPHA:411602 ORPHA:276621 ORPHA:3337 OMIM:301074 ORPHA:92050 ORPHA:144 ORPHA:220295 OMIM:610965 ORPHA:83469 ORPHA:370348 ORPHA:37042 ORPHA:206436 ORPHA:3226 ORPHA:251071 ORPHA:2072 ORPHA:363717 ORPHA:98897 ORPHA:317 ORPHA:576 ORPHA:171 ORPHA:86884 ORPHA:397 ORPHA:29207 ORPHA:36426 ORPHA:3287 ORPHA:133 OMIM:212750 ORPHA:703 ORPHA:747 OMIM:181000 ORPHA:79242 ORPHA:20 ORPHA:800 ORPHA:399 ORPHA:248111 OMIM:615846 OMIM:209950 OMIM:266600 ORPHA:3452 ORPHA:71493 ORPHA:729 ORPHA:98934 OMIM:606438 OMIM:613239 OMIM:256700 OMIM:613673 ORPHA:312 ORPHA:298 ORPHA:75233 ORPHA:157973 ORPHA:740 ORPHA:77297 OMIM:164310 ORPHA:2774 ORPHA:361 OMIM:312750 ORPHA:2126 ORPHA:371364 ORPHA:647 ORPHA:649 OMIM:617321 ORPHA:216866 ORPHA:3163 ORPHA:53035 OMIM:603041 OMIM:613662 OMIM:607459 OMIM:600072 OMIM:137440 ORPHA:157941 ORPHA:109 ORPHA:2198 ORPHA:420741 OMIM:619487 OMIM:612075 ORPHA:171876 ORPHA:3208 ORPHA:97286 ORPHA:3389 ORPHA:60025 ORPHA:37 ORPHA:35710 ORPHA:52503 ORPHA:85278 OMIM:605543 OMIM:614162 OMIM:618093 ORPHA:1933 OMIM:619381 ORPHA:1328 ORPHA:2576 ORPHA:1216 ORPHA:99819 ORPHA:424 ORPHA:85447 OMIM:619377 OMIM:616801 ORPHA:2388

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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