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:0030498	HP:0030498	Macular thickening	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0030498	HP:0030498	Macular thickening	0	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78		6
HP:0030498	HP:0030498	Macular thickening	0	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0030498	HP:0030498	Macular thickening	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration		20
HP:0030498	HP:0030498	Macular thickening	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0030498	HP:0030498	Macular thickening	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy		88
HP:0030498	HP:0030498	Macular thickening	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy		126
HP:0030498	HP:0030498	Macular thickening	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59		47
HP:0030498	HP:0030498	Macular thickening	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy		109
HP:0030498	HP:0030498	Macular thickening	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy		4
HP:0030498	HP:0030498	Macular thickening	0	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0030498	HP:0030498	Macular thickening	0	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0030498	HP:0030498	Macular thickening	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy		125
HP:0030498	HP:0030498	Macular thickening	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5		26
HP:0030498	HP:0030498	Macular thickening	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0030498	HP:0030498	Macular thickening	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2		220
HP:0030498	HP:0030498	Macular thickening	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0030498	HP:0030498	Macular thickening	0	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria		217
HP:0030498	HP:0030498	Macular thickening	0	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome		187
HP:0030498	HP:0030498	Macular thickening	0	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome		58
HP:0030498	HP:0030498	Macular thickening	0	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27		30
HP:0030498	HP:0030498	Macular thickening	0	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency		94
HP:0030498	HP:0030498	Macular thickening	0	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57		18
HP:0030498	HP:0030498	Macular thickening	0	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0030498	HP:0030498	Macular thickening	0	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11		70
HP:0030498	HP:0030498	Macular thickening	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0030498	HP:0030498	Macular thickening	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens		159
HP:0030498	HP:0030498	Macular thickening	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens		32
HP:0030498	HP:0030498	Macular thickening	0	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77		5
HP:0030498	HP:0030498	Macular thickening	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens		107
HP:0030498	HP:0030498	Macular thickening	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens		47
HP:0030498	HP:0030498	Macular thickening	0	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88		284
HP:0030498	HP:0030498	Macular thickening	0	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9		14
HP:0030498	HP:0030498	Macular thickening	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		56
HP:0030498	HP:0030498	Macular thickening	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy		56
HP:0030498	HP:0030498	Macular thickening	0	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis		28
HP:0030498	HP:0030498	Macular thickening	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0030498	HP:0030498	Macular thickening	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0030498	HP:0030498	Macular thickening	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy		14
HP:0030498	HP:0011511	Macular schisis	1	CL E G H
HP:0030498	HP:0100014	Epiretinal membrane	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0030498	HP:0040049	Macular edema	1	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78		6
HP:0030498	HP:0040049	Macular edema	1	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0030498	HP:0100014	Epiretinal membrane	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040284 - Very rare	20
HP:0030498	HP:0040049	Macular edema	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0030498	HP:0100014	Epiretinal membrane	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	88
HP:0030498	HP:0040049	Macular edema	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	88
HP:0030498	HP:0040049	Macular edema	1	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy		126
HP:0030498	HP:0040049	Macular edema	1	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59		47
HP:0030498	HP:0040049	Macular edema	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	109
HP:0030498	HP:0100014	Epiretinal membrane	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	109
HP:0030498	HP:0100014	Epiretinal membrane	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent	4
HP:0030498	HP:0040049	Macular edema	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy		4
HP:0030498	HP:0040049	Macular edema	1	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0030498	HP:0040049	Macular edema	1	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0030498	HP:0100014	Epiretinal membrane	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	125
HP:0030498	HP:0040049	Macular edema	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	125
HP:0030498	HP:0040049	Macular edema	1	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5		26
HP:0030498	HP:0040049	Macular edema	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0030498	HP:0100014	Epiretinal membrane	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0030498	HP:0100014	Epiretinal membrane	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional	220
HP:0030498	HP:0100014	Epiretinal membrane	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II	.	220
HP:0030498	HP:0100014	Epiretinal membrane	1	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria		217
HP:0030498	HP:0040049	Macular edema	1	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome		187
HP:0030498	HP:0040049	Macular edema	1	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome	.	58
HP:0030498	HP:0040049	Macular edema	1	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	HP:0040283 - Occasional	30
HP:0030498	HP:0040049	Macular edema	1	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57		18
HP:0030498	HP:0040049	Macular edema	1	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0030498	HP:0040049	Macular edema	1	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11		70
HP:0030498	HP:0040049	Macular edema	1	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0030498	HP:0040049	Macular edema	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens		159
HP:0030498	HP:0040049	Macular edema	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens		32
HP:0030498	HP:0040049	Macular edema	1	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77		5
HP:0030498	HP:0040049	Macular edema	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens		107
HP:0030498	HP:0040049	Macular edema	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens		47
HP:0030498	HP:0040049	Macular edema	1	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88		284
HP:0030498	HP:0040049	Macular edema	1	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9	HP:0040283 - Occasional	14
HP:0030498	HP:0040049	Macular edema	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional	56
HP:0030498	HP:0040049	Macular edema	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0030498	HP:0100014	Epiretinal membrane	1	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis		28
HP:0030498	HP:0040049	Macular edema	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0030498	HP:0100014	Epiretinal membrane	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0030498	HP:0040049	Macular edema	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	490
HP:0030498	HP:0100014	Epiretinal membrane	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	14
HP:0030498	HP:0040049	Macular edema	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	14
HP:0030498	HP:0011505	Cystoid macular edema	2	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78	.	6
HP:0030498	HP:0011505	Cystoid macular edema	2	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0030498	HP:0011505	Cystoid macular edema	2	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional	126
HP:0030498	HP:0011505	Cystoid macular edema	2	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	HP:0040283 - Occasional	47
HP:0030498	HP:0011505	Cystoid macular edema	2	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040281 - Very frequent	4
HP:0030498	HP:0011505	Cystoid macular edema	2	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0030498	HP:0011505	Cystoid macular edema	2	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0030498	HP:0011505	Cystoid macular edema	2	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	HP:0040283 - Occasional	26
HP:0030498	HP:0011505	Cystoid macular edema	2	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome	.	187
HP:0030498	HP:0011505	Cystoid macular edema	2	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57	.	18
HP:0030498	HP:0011505	Cystoid macular edema	2	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0030498	HP:0011505	Cystoid macular edema	2	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13	HP:0040283 - Occasional	94
HP:0030498	HP:0011505	Cystoid macular edema	2	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	159
HP:0030498	HP:0011505	Cystoid macular edema	2	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	32
HP:0030498	HP:0011505	Cystoid macular edema	2	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77	HP:0040283 - Occasional	5
HP:0030498	HP:0011505	Cystoid macular edema	2	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	107
HP:0030498	HP:0011505	Cystoid macular edema	2	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	47
HP:0030498	HP:0011505	Cystoid macular edema	2	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88		284