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:0001045	HP:0001045	Vitiligo	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040284 - Very rare	16
HP:0001045	HP:0001045	Vitiligo	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0001045	HP:0001045	Vitiligo	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0001045	HP:0001045	Vitiligo	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040284 - Very rare	5
HP:0001045	HP:0001045	Vitiligo	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001045	HP:0001045	Vitiligo	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001045	HP:0001045	Vitiligo	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001045	HP:0001045	Vitiligo	0	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001045	HP:0001045	Vitiligo	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040284 - Very rare	9
HP:0001045	HP:0001045	Vitiligo	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040283 - Occasional	94
HP:0001045	HP:0001045	Vitiligo	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040282 - Frequent	13
HP:0001045	HP:0001045	Vitiligo	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.	13
HP:0001045	HP:0001045	Vitiligo	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040283 - Occasional	5
HP:0001045	HP:0001045	Vitiligo	0	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent	59
HP:0001045	HP:0001045	Vitiligo	0	FOXD3 CL E G H	27022	3804	OMIM:607836	Autoimmune disease, susceptibility to, 1	.	1
HP:0001045	HP:0001045	Vitiligo	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0001045	HP:0001045	Vitiligo	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0001045	HP:0001045	Vitiligo	0	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive	HP:0040283 - Occasional	9
HP:0001045	HP:0001045	Vitiligo	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001045	HP:0001045	Vitiligo	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0001045	HP:0001045	Vitiligo	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001045	HP:0001045	Vitiligo	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001045	HP:0001045	Vitiligo	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001045	HP:0001045	Vitiligo	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001045	HP:0001045	Vitiligo	0	NLRP1 CL E G H	22861	14374	OMIM:606579	Vitiligo-Associated multiple autoimmune disease susceptibility 1	.	37
HP:0001045	HP:0001045	Vitiligo	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0001045	HP:0001045	Vitiligo	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0001045	HP:0001045	Vitiligo	0	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent	3
HP:0001045	HP:0001045	Vitiligo	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	HP:0040283 - Occasional	274
HP:0001045	HP:0001045	Vitiligo	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001045	HP:0001045	Vitiligo	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001045	HP:0001045	Vitiligo	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001045	HP:0001045	Vitiligo	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001045	HP:0001045	Vitiligo	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001045	HP:0001045	Vitiligo	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001045	HP:0001045	Vitiligo	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001045	HP:0005602	Progressive vitiligo	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706