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:0030329	HP:0030329	Retinal thinning	0	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	826
HP:0030329	HP:0030329	Retinal thinning	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	.	87
HP:0030329	HP:0030329	Retinal thinning	0	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	94
HP:0030329	HP:0030329	Retinal thinning	0	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	58
HP:0030329	HP:0030329	Retinal thinning	0	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	129
HP:0030329	HP:0030329	Retinal thinning	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0030329	HP:0030329	Retinal thinning	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0030329	HP:0030329	Retinal thinning	0	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	194
HP:0030329	HP:0030329	Retinal thinning	0	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	.	284
HP:0030329	HP:0030329	Retinal thinning	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional	284
HP:0030329	HP:0030329	Retinal thinning	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional	126
HP:0030329	HP:0030329	Retinal thinning	0	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	62
HP:0030329	HP:0030329	Retinal thinning	0	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	39
HP:0030329	HP:0030329	Retinal thinning	0	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	5
HP:0030329	HP:0030329	Retinal thinning	0	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	124
HP:0030329	HP:0030329	Retinal thinning	0	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	4
HP:0030329	HP:0030329	Retinal thinning	0	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	63
HP:0030329	HP:0030329	Retinal thinning	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent	4
HP:0030329	HP:0030329	Retinal thinning	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0030329	HP:0030329	Retinal thinning	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome		35
HP:0030329	HP:0030329	Retinal thinning	0	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	54
HP:0030329	HP:0030329	Retinal thinning	0	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	42
HP:0030329	HP:0030329	Retinal thinning	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040281 - Very frequent	11
HP:0030329	HP:0030329	Retinal thinning	0	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	126
HP:0030329	HP:0030329	Retinal thinning	0	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0030329	HP:0030329	Retinal thinning	0	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	110
HP:0030329	HP:0030329	Retinal thinning	0	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	159
HP:0030329	HP:0030329	Retinal thinning	0	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	107
HP:0030329	HP:0030329	Retinal thinning	0	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS		2
HP:0030329	HP:0030329	Retinal thinning	0	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	32
HP:0030329	HP:0030329	Retinal thinning	0	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	66
HP:0030329	HP:0030329	Retinal thinning	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0030329	HP:0030329	Retinal thinning	0	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	104