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:0010696	HP:0010696	Polar cataract	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0010696	HP:0010696	Polar cataract	0	BBS2 CL E G H	583	967	OMIM:616562	Retinitis pigmentosa 74			97
HP:0010696	HP:0010696	Polar cataract	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant			161
HP:0010696	HP:0010696	Polar cataract	0	CRYAB CL E G H	1410	2389	OMIM:613763	Cataract, posterior polar, 2			46
HP:0010696	HP:0010696	Polar cataract	0	EPHA2 CL E G H	1969	3386	OMIM:116600	Cataract, posterior polar, 1 ctpa cataract, congenital total, included			87
HP:0010696	HP:0010696	Polar cataract	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0010696	HP:0010696	Polar cataract	0	HSF4 CL E G H	3299	5227	OMIM:116800	Cataract, lamellar			38
HP:0010696	HP:0010696	Polar cataract	0	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish			3
HP:0010696	HP:0010696	Polar cataract	0	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B	.	HP:0003623 - Neonatal onset	99
HP:0010696	HP:0010696	Polar cataract	0	PITX3 CL E G H	5309	9006	OMIM:107250	Anterior segment dysgenesis 1			6
HP:0010696	HP:0010696	Polar cataract	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0010696	HP:0010696	Polar cataract	0	VIM CL E G H	7431	12692	OMIM:116300	Cataract 30, multiple types			3
HP:0010696	HP:0010696	Polar cataract	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0010696	HP:0001115	Posterior polar cataract	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional		3179
HP:0010696	HP:0001115	Posterior polar cataract	1	BBS2 CL E G H	583	967	OMIM:616562	Retinitis pigmentosa 74	.		97
HP:0010696	HP:0001134	Anterior polar cataract	1	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.		161
HP:0010696	HP:0001115	Posterior polar cataract	1	CRYAB CL E G H	1410	2389	OMIM:613763	Cataract, posterior polar, 2	.		46
HP:0010696	HP:0001115	Posterior polar cataract	1	EPHA2 CL E G H	1969	3386	OMIM:116600	Cataract, posterior polar, 1 ctpa cataract, congenital total, included			87
HP:0010696	HP:0001134	Anterior polar cataract	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0010696	HP:0001134	Anterior polar cataract	1	HSF4 CL E G H	3299	5227	OMIM:116800	Cataract, lamellar	.		38
HP:0010696	HP:0001115	Posterior polar cataract	1	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish	.		3
HP:0010696	HP:0001115	Posterior polar cataract	1	PITX3 CL E G H	5309	9006	OMIM:107250	Anterior segment dysgenesis 1			6
HP:0010696	HP:0001134	Anterior polar cataract	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0010696	HP:0001115	Posterior polar cataract	1	VIM CL E G H	7431	12692	OMIM:116300	Cataract 30, multiple types	.		3
HP:0010696	HP:0001115	Posterior polar cataract	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0010696	HP:0010697	Anterior pyramidal cataract	2	CL E G H