Human Phenotype Ontology

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:0002039	HP:0002039	Anorexia	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional	91
HP:0002039	HP:0002039	Anorexia	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0002039	HP:0002039	Anorexia	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040282 - Frequent	75
HP:0002039	HP:0002039	Anorexia	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia	.	31
HP:0002039	HP:0002039	Anorexia	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0002039	HP:0002039	Anorexia	0	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent	3267
HP:0002039	HP:0002039	Anorexia	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	239
HP:0002039	HP:0002039	Anorexia	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	150
HP:0002039	HP:0002039	Anorexia	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent	169
HP:0002039	HP:0002039	Anorexia	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040282 - Frequent	67
HP:0002039	HP:0002039	Anorexia	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0002039	HP:0002039	Anorexia	0	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma	HP:0040283 - Occasional	5769
HP:0002039	HP:0002039	Anorexia	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	5769
HP:0002039	HP:0002039	Anorexia	0	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma	HP:0040283 - Occasional	7642
HP:0002039	HP:0002039	Anorexia	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	7642
HP:0002039	HP:0002039	Anorexia	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002039	HP:0002039	Anorexia	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	449
HP:0002039	HP:0002039	Anorexia	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0002039	HP:0002039	Anorexia	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0002039	HP:0002039	Anorexia	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040283 - Occasional	242
HP:0002039	HP:0002039	Anorexia	0	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent	1
HP:0002039	HP:0002039	Anorexia	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002039	HP:0002039	Anorexia	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0002039	HP:0002039	Anorexia	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0002039	HP:0002039	Anorexia	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0002039	HP:0002039	Anorexia	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0002039	HP:0002039	Anorexia	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0002039	HP:0002039	Anorexia	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	289
HP:0002039	HP:0002039	Anorexia	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0002039	HP:0002039	Anorexia	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0002039	HP:0002039	Anorexia	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent
HP:0002039	HP:0002039	Anorexia	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002039	HP:0002039	Anorexia	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0002039	HP:0002039	Anorexia	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0002039	HP:0002039	Anorexia	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional	8
HP:0002039	HP:0002039	Anorexia	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent
HP:0002039	HP:0002039	Anorexia	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent	291
HP:0002039	HP:0002039	Anorexia	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0002039	HP:0002039	Anorexia	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	4
HP:0002039	HP:0002039	Anorexia	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	4
HP:0002039	HP:0002039	Anorexia	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	2
HP:0002039	HP:0002039	Anorexia	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2
HP:0002039	HP:0002039	Anorexia	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040281 - Very frequent	148
HP:0002039	HP:0002039	Anorexia	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent	35
HP:0002039	HP:0002039	Anorexia	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0002039	HP:0002039	Anorexia	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0002039	HP:0002039	Anorexia	0	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent	7
HP:0002039	HP:0002039	Anorexia	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0002039	HP:0002039	Anorexia	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002039	HP:0002039	Anorexia	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002039	HP:0002039	Anorexia	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	31
HP:0002039	HP:0002039	Anorexia	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002039	HP:0002039	Anorexia	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0002039	HP:0002039	Anorexia	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent	1
HP:0002039	HP:0002039	Anorexia	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0002039	HP:0002039	Anorexia	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002039	HP:0002039	Anorexia	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	196
HP:0002039	HP:0002039	Anorexia	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	94
HP:0002039	HP:0002039	Anorexia	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040282 - Frequent	950
HP:0002039	HP:0002039	Anorexia	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0002039	HP:0002039	Anorexia	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0002039	HP:0002039	Anorexia	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0002039	HP:0002039	Anorexia	0	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD	HP:0040281 - Very frequent	50
HP:0002039	HP:0002039	Anorexia	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040281 - Very frequent
HP:0002039	HP:0002039	Anorexia	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0002039	HP:0002039	Anorexia	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	26
HP:0002039	HP:0002039	Anorexia	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0002039	HP:0002039	Anorexia	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0002039	HP:0002039	Anorexia	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0002039	HP:0002039	Anorexia	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	13
HP:0002039	HP:0002039	Anorexia	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0002039	HP:0002039	Anorexia	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0002039	HP:0002039	Anorexia	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	3
HP:0002039	HP:0002039	Anorexia	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	1349
HP:0002039	HP:0002039	Anorexia	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	192
HP:0002039	HP:0002039	Anorexia	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional	563
HP:0002039	HP:0002039	Anorexia	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0002039	HP:0002039	Anorexia	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0002039	HP:0002039	Anorexia	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	3
HP:0002039	HP:0002039	Anorexia	0	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma	HP:0040283 - Occasional	1
HP:0002039	HP:0002039	Anorexia	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent
HP:0002039	HP:0002039	Anorexia	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0002039	HP:0002039	Anorexia	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0002039	HP:0002039	Anorexia	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent	77
HP:0002039	HP:0002039	Anorexia	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040281 - Very frequent	55
HP:0002039	HP:0002039	Anorexia	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	63
HP:0002039	HP:0002039	Anorexia	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040283 - Occasional	55
HP:0002039	HP:0002039	Anorexia	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040281 - Very frequent	101
HP:0002039	HP:0002039	Anorexia	0	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia	.	109
HP:0002039	HP:0002039	Anorexia	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	504
HP:0002039	HP:0002039	Anorexia	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0002039	HP:0002039	Anorexia	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	45
HP:0002039	HP:0002039	Anorexia	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0002039	HP:0002039	Anorexia	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0002039	HP:0002039	Anorexia	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0002039	HP:0002039	Anorexia	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002039	HP:0002039	Anorexia	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0002039	HP:0002039	Anorexia	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0002039	HP:0002039	Anorexia	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0002039	HP:0002039	Anorexia	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0002039	HP:0002039	Anorexia	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0002039	HP:0002039	Anorexia	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	911
HP:0002039	HP:0002039	Anorexia	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	85
HP:0002039	HP:0002039	Anorexia	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002039	HP:0002039	Anorexia	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1