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:0000572	HP:0000572	Visual loss	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000572	HP:0000572	Visual loss	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.		135
HP:0000572	HP:0000572	Visual loss	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		63
HP:0000572	HP:0000572	Visual loss	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		530
HP:0000572	HP:0000572	Visual loss	0	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000572	HP:0000572	Visual loss	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000572	HP:0000572	Visual loss	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		175
HP:0000572	HP:0000572	Visual loss	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000572	HP:0000572	Visual loss	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000572	HP:0000572	Visual loss	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent		404
HP:0000572	HP:0000572	Visual loss	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0000572	HP:0000572	Visual loss	0	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss	.
HP:0000572	HP:0000572	Visual loss	0	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000572	HP:0000572	Visual loss	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1			39
HP:0000572	HP:0000572	Visual loss	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000572	HP:0000572	Visual loss	0	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000572	HP:0000572	Visual loss	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.		150
HP:0000572	HP:0000572	Visual loss	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000572	Visual loss	0	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	.
HP:0000572	HP:0000572	Visual loss	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0000572	HP:0000572	Visual loss	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0000572	HP:0000572	Visual loss	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000572	HP:0000572	Visual loss	0	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		184
HP:0000572	HP:0000572	Visual loss	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.		101
HP:0000572	HP:0000572	Visual loss	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000572	HP:0000572	Visual loss	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000572	HP:0000572	Visual loss	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0000572	HP:0000572	Visual loss	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.		223
HP:0000572	HP:0000572	Visual loss	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0000572	HP:0000572	Visual loss	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040282 - Frequent		20
HP:0000572	HP:0000572	Visual loss	0	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration	.		20
HP:0000572	HP:0000572	Visual loss	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.		29
HP:0000572	HP:0000572	Visual loss	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0000572	HP:0000572	Visual loss	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0000572	HP:0000572	Visual loss	0	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		8
HP:0000572	HP:0000572	Visual loss	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000572	HP:0000572	Visual loss	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000572	HP:0000572	Visual loss	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0000572	HP:0000572	Visual loss	0	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0000572	HP:0000572	Visual loss	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		7
HP:0000572	HP:0000572	Visual loss	0	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome			34
HP:0000572	HP:0000572	Visual loss	0	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome			342
HP:0000572	HP:0000572	Visual loss	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		90
HP:0000572	HP:0000572	Visual loss	0	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		9
HP:0000572	HP:0000572	Visual loss	0	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000572	HP:0000572	Visual loss	0	CFH CL E G H	3075	4883	OMIM:126700	Basal laminar drusen			86
HP:0000572	HP:0000572	Visual loss	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent		86
HP:0000572	HP:0000572	Visual loss	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000572	HP:0000572	Visual loss	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000572	HP:0000572	Visual loss	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent		57
HP:0000572	HP:0000572	Visual loss	0	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13			57
HP:0000572	HP:0000572	Visual loss	0	CHM CL E G H	1121	1940	ORPHA:180	Choroideremia			47
HP:0000572	HP:0000572	Visual loss	0	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA			47
HP:0000572	HP:0000572	Visual loss	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0000572	HP:0000572	Visual loss	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.		102
HP:0000572	HP:0000572	Visual loss	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0000572	HP:0000572	Visual loss	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000572	HP:0000572	Visual loss	0	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5			141
HP:0000572	HP:0000572	Visual loss	0	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6			143
HP:0000572	HP:0000572	Visual loss	0	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8			111
HP:0000572	HP:0000572	Visual loss	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0000572	HP:0000572	Visual loss	0	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		60
HP:0000572	HP:0000572	Visual loss	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0000572	HP:0000572	Visual loss	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent		177
HP:0000572	HP:0000572	Visual loss	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040283 - Occasional		284
HP:0000572	HP:0000572	Visual loss	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional		263
HP:0000572	HP:0000572	Visual loss	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		263
HP:0000572	HP:0000572	Visual loss	0	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000572	HP:0000572	Visual loss	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0000572	HP:0000572	Visual loss	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000572	Visual loss	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000572	HP:0000572	Visual loss	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000572	HP:0000572	Visual loss	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000572	Visual loss	0	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	.
HP:0000572	HP:0000572	Visual loss	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000572	HP:0000572	Visual loss	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0000572	HP:0000572	Visual loss	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0000572	HP:0000572	Visual loss	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0000572	HP:0000572	Visual loss	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000572	HP:0000572	Visual loss	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.		159
HP:0000572	HP:0000572	Visual loss	0	CYP1B1 CL E G H	1545	2597	ORPHA:98976	Congenital glaucoma	HP:0040283 - Occasional		101
HP:0000572	HP:0000572	Visual loss	0	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy			126
HP:0000572	HP:0000572	Visual loss	0	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		1
HP:0000572	HP:0000572	Visual loss	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000572	Visual loss	0	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	.
HP:0000572	HP:0000572	Visual loss	0	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal			31
HP:0000572	HP:0000572	Visual loss	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000572	Visual loss	0	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5			94
HP:0000572	HP:0000572	Visual loss	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent		54
HP:0000572	HP:0000572	Visual loss	0	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	.		3
HP:0000572	HP:0000572	Visual loss	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.		83
HP:0000572	HP:0000572	Visual loss	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0000572	HP:0000572	Visual loss	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0000572	HP:0000572	Visual loss	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000572	HP:0000572	Visual loss	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000572	HP:0000572	Visual loss	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000572	HP:0000572	Visual loss	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0000572	HP:0000572	Visual loss	0	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		1361
HP:0000572	HP:0000572	Visual loss	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040283 - Occasional		175
HP:0000572	HP:0000572	Visual loss	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040282 - Frequent		111
HP:0000572	HP:0000572	Visual loss	0	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		63
HP:0000572	HP:0000572	Visual loss	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional		160
HP:0000572	HP:0000572	Visual loss	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0000572	HP:0000572	Visual loss	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent		160
HP:0000572	HP:0000572	Visual loss	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040282 - Frequent		137
HP:0000572	HP:0000572	Visual loss	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0000572	HP:0000572	Visual loss	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0000572	HP:0000572	Visual loss	0	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		16
HP:0000572	HP:0000572	Visual loss	0	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		7
HP:0000572	HP:0000572	Visual loss	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare		101
HP:0000572	HP:0000572	Visual loss	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		24
HP:0000572	HP:0000572	Visual loss	0	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3			24
HP:0000572	HP:0000572	Visual loss	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		124
HP:0000572	HP:0000572	Visual loss	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		99
HP:0000572	HP:0000572	Visual loss	0	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000572	HP:0000572	Visual loss	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0000572	HP:0000572	Visual loss	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040281 - Very frequent		4
HP:0000572	HP:0000572	Visual loss	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0000572	HP:0000572	Visual loss	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0000572	HP:0000572	Visual loss	0	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1			262
HP:0000572	HP:0000572	Visual loss	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0000572	HP:0000572	Visual loss	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0000572	HP:0000572	Visual loss	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000572	HP:0000572	Visual loss	0	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80			148
HP:0000572	HP:0000572	Visual loss	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.		148
HP:0000572	HP:0000572	Visual loss	0	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		65
HP:0000572	HP:0000572	Visual loss	0	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000572	HP:0000572	Visual loss	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		111
HP:0000572	HP:0000572	Visual loss	0	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome			106
HP:0000572	HP:0000572	Visual loss	0	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome			61
HP:0000572	HP:0000572	Visual loss	0	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000572	HP:0000572	Visual loss	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	HP:0040283 - Occasional		106
HP:0000572	HP:0000572	Visual loss	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0000572	HP:0000572	Visual loss	0	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0000572	HP:0000572	Visual loss	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0000572	HP:0000572	Visual loss	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		276
HP:0000572	HP:0000572	Visual loss	0	LAMC3 CL E G H	10319	6494	OMIM:614115	Cortical malformations, occipital	.		114
HP:0000572	HP:0000572	Visual loss	0	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5	.	HP:0003577 - Congenital onset	70
HP:0000572	HP:0000572	Visual loss	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000572	HP:0000572	Visual loss	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000572	HP:0000572	Visual loss	0	LSS CL E G H	4047	6708	OMIM:616509	Cataract 44	.		2
HP:0000572	HP:0000572	Visual loss	0	LTBP2 CL E G H	4053	6715	ORPHA:98976	Congenital glaucoma	HP:0040283 - Occasional		123
HP:0000572	HP:0000572	Visual loss	0	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		123
HP:0000572	HP:0000572	Visual loss	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000572	HP:0000572	Visual loss	0	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38			75
HP:0000572	HP:0000572	Visual loss	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000572	HP:0000572	Visual loss	0	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.		120
HP:0000572	HP:0000572	Visual loss	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		127
HP:0000572	HP:0000572	Visual loss	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		6
HP:0000572	HP:0000572	Visual loss	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0000572	HP:0000572	Visual loss	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0000572	HP:0000572	Visual loss	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		516
HP:0000572	HP:0000572	Visual loss	0	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I	.		516
HP:0000572	HP:0000572	Visual loss	0	MYOC CL E G H	4653	7610	ORPHA:98976	Congenital glaucoma	HP:0040283 - Occasional		47
HP:0000572	HP:0000572	Visual loss	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0000572	HP:0000572	Visual loss	0	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000572	Visual loss	0	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy	.
HP:0000572	HP:0000572	Visual loss	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000572	HP:0000572	Visual loss	0	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000572	Visual loss	0	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy	.
HP:0000572	HP:0000572	Visual loss	0	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000572	Visual loss	0	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy	.
HP:0000572	HP:0000572	Visual loss	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000572	HP:0000572	Visual loss	0	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000572	Visual loss	0	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy	.
HP:0000572	HP:0000572	Visual loss	0	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000572	Visual loss	0	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy	.
HP:0000572	HP:0000572	Visual loss	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000572	HP:0000572	Visual loss	0	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000572	Visual loss	0	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy	.
HP:0000572	HP:0000572	Visual loss	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000572	HP:0000572	Visual loss	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0000572	HP:0000572	Visual loss	0	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy			65
HP:0000572	HP:0000572	Visual loss	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional		43
HP:0000572	HP:0000572	Visual loss	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0000572	HP:0000572	Visual loss	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0000572	HP:0000572	Visual loss	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0000572	HP:0000572	Visual loss	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0000572	HP:0000572	Visual loss	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000572	HP:0000572	Visual loss	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0000572	HP:0000572	Visual loss	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.		77
HP:0000572	HP:0000572	Visual loss	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.		88
HP:0000572	HP:0000572	Visual loss	0	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome	HP:0040281 - Very frequent		88
HP:0000572	HP:0000572	Visual loss	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional		187
HP:0000572	HP:0000572	Visual loss	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	HP:0040283 - Occasional		144
HP:0000572	HP:0000572	Visual loss	0	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome			85
HP:0000572	HP:0000572	Visual loss	0	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome			157
HP:0000572	HP:0000572	Visual loss	0	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome			220
HP:0000572	HP:0000572	Visual loss	0	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000572	HP:0000572	Visual loss	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000572	HP:0000572	Visual loss	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0000572	HP:0000572	Visual loss	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000572	HP:0000572	Visual loss	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent
HP:0000572	HP:0000572	Visual loss	0	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		194
HP:0000572	HP:0000572	Visual loss	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0000572	HP:0000572	Visual loss	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0000572	HP:0000572	Visual loss	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000572	HP:0000572	Visual loss	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		40
HP:0000572	HP:0000572	Visual loss	0	PEX13 CL E G H	5194	8855	OMIM:614885	Peroxisome biogenesis disorder 11B	.		66
HP:0000572	HP:0000572	Visual loss	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0000572	HP:0000572	Visual loss	0	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency	HP:0040283 - Occasional		21
HP:0000572	HP:0000572	Visual loss	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0000572	HP:0000572	Visual loss	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000572	HP:0000572	Visual loss	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.		133
HP:0000572	HP:0000572	Visual loss	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	HP:0040284 - Very rare
HP:0000572	HP:0000572	Visual loss	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0000572	HP:0000572	Visual loss	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0000572	HP:0000572	Visual loss	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0000572	HP:0000572	Visual loss	0	POLG2 CL E G H	11232	9180	OMIM:619425	MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B			45
HP:0000572	HP:0000572	Visual loss	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0000572	HP:0000572	Visual loss	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		58
HP:0000572	HP:0000572	Visual loss	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		159
HP:0000572	HP:0000572	Visual loss	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000572	HP:0000572	Visual loss	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.		49
HP:0000572	HP:0000572	Visual loss	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0000572	HP:0000572	Visual loss	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0000572	HP:0000572	Visual loss	0	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000572	HP:0000572	Visual loss	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000572	HP:0000572	Visual loss	0	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		3
HP:0000572	HP:0000572	Visual loss	0	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11			52
HP:0000572	HP:0000572	Visual loss	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0000572	HP:0000572	Visual loss	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000572	HP:0000572	Visual loss	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000572	HP:0000572	Visual loss	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0000572	HP:0000572	Visual loss	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000572	HP:0000572	Visual loss	0	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD			284
HP:0000572	HP:0000572	Visual loss	0	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000572	HP:0000572	Visual loss	0	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome			61
HP:0000572	HP:0000572	Visual loss	0	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10			48
HP:0000572	HP:0000572	Visual loss	0	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		19
HP:0000572	HP:0000572	Visual loss	0	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism			177
HP:0000572	HP:0000572	Visual loss	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.		55
HP:0000572	HP:0000572	Visual loss	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040283 - Occasional		55
HP:0000572	HP:0000572	Visual loss	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000572	HP:0000572	Visual loss	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000572	HP:0000572	Visual loss	0	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0000572	HP:0000572	Visual loss	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	HP:0040283 - Occasional		47
HP:0000572	HP:0000572	Visual loss	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000572	HP:0000572	Visual loss	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000572	HP:0000572	Visual loss	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040282 - Frequent		174
HP:0000572	HP:0000572	Visual loss	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000572	HP:0000572	Visual loss	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000572	HP:0000572	Visual loss	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0000572	HP:0000572	Visual loss	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26
HP:0000572	HP:0000572	Visual loss	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040282 - Frequent		33
HP:0000572	HP:0000572	Visual loss	0	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3			48
HP:0000572	HP:0000572	Visual loss	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000572	HP:0000572	Visual loss	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	HP:0040282 - Frequent		80
HP:0000572	HP:0000572	Visual loss	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040282 - Frequent		80
HP:0000572	HP:0000572	Visual loss	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0000572	HP:0000572	Visual loss	0	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0000572	HP:0000572	Visual loss	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000572	HP:0000572	Visual loss	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2	HP:0040283 - Occasional		43
HP:0000572	HP:0000572	Visual loss	0	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16	.		271
HP:0000572	HP:0000572	Visual loss	0	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0000572	HP:0000572	Visual loss	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.		140
HP:0000572	HP:0000572	Visual loss	0	TEK CL E G H	7010	11724	ORPHA:98976	Congenital glaucoma	HP:0040283 - Occasional		78
HP:0000572	HP:0000572	Visual loss	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000572	HP:0000572	Visual loss	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive	.		18
HP:0000572	HP:0000572	Visual loss	0	TGFBI CL E G H	7045	11771	OMIM:122200	Corneal dystrophy, lattice type I			58
HP:0000572	HP:0000572	Visual loss	0	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040281 - Very frequent		58
HP:0000572	HP:0000572	Visual loss	0	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy			58
HP:0000572	HP:0000572	Visual loss	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional		15
HP:0000572	HP:0000572	Visual loss	0	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040281 - Very frequent		95
HP:0000572	HP:0000572	Visual loss	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0000572	HP:0000572	Visual loss	0	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2			203
HP:0000572	HP:0000572	Visual loss	0	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome			6
HP:0000572	HP:0000572	Visual loss	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000572	HP:0000572	Visual loss	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0000572	HP:0000572	Visual loss	0	TRIM44 CL E G H	54765	19016	OMIM:617142	Aniridia 3			1
HP:0000572	HP:0000572	Visual loss	0	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		1
HP:0000572	HP:0000572	Visual loss	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000572	HP:0000572	Visual loss	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000572	HP:0000572	Visual loss	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000572	HP:0000572	Visual loss	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000572	HP:0000572	Visual loss	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000572	HP:0000572	Visual loss	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000572	HP:0000572	Visual loss	0	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000572	HP:0000572	Visual loss	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000572	HP:0000572	Visual loss	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0000572	HP:0000572	Visual loss	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.		21
HP:0000572	HP:0000572	Visual loss	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0000572	HP:0000572	Visual loss	0	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I	.		173
HP:0000572	HP:0000572	Visual loss	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0000572	HP:0000572	Visual loss	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		777
HP:0000572	HP:0000572	Visual loss	0	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy	.		180
HP:0000572	HP:0000572	Visual loss	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0000572	HP:0000572	Visual loss	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000572	HP:0000572	Visual loss	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0000572	HP:0000572	Visual loss	0	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome			95
HP:0000572	HP:0000572	Visual loss	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		155
HP:0000572	HP:0000572	Visual loss	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040281 - Very frequent		5
HP:0000572	HP:0000572	Visual loss	0	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0000572	HP:0000572	Visual loss	0	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6			14
HP:0000572	HP:0000572	Visual loss	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.		397
HP:0000572	HP:0000572	Visual loss	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		397
HP:0000572	HP:0000572	Visual loss	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		1
HP:0000572	HP:0000529	Progressive visual loss	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000572	HP:0000529	Progressive visual loss	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		95
HP:0000572	HP:0000529	Progressive visual loss	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000572	HP:0000529	Progressive visual loss	1	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1			39
HP:0000572	HP:0000529	Progressive visual loss	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000572	HP:0000529	Progressive visual loss	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.		150
HP:0000572	HP:0000529	Progressive visual loss	1	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000529	Progressive visual loss	1	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II	.		8
HP:0000572	HP:0000529	Progressive visual loss	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000572	HP:0000529	Progressive visual loss	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0000572	HP:0000529	Progressive visual loss	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000572	HP:0200068	Nonprogressive visual loss	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0000572	HP:0000529	Progressive visual loss	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.		114
HP:0000572	HP:0000529	Progressive visual loss	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent		35
HP:0000572	HP:0000529	Progressive visual loss	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		636
HP:0000572	HP:0000529	Progressive visual loss	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent		636
HP:0000572	HP:0000529	Progressive visual loss	1	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0000572	HP:0000529	Progressive visual loss	1	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		34
HP:0000572	HP:0000529	Progressive visual loss	1	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		342
HP:0000572	HP:0000529	Progressive visual loss	1	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000572	HP:0000529	Progressive visual loss	1	CFH CL E G H	3075	4883	OMIM:126700	Basal laminar drusen	.		86
HP:0000572	HP:0000529	Progressive visual loss	1	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000572	HP:0000529	Progressive visual loss	1	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000572	HP:0000529	Progressive visual loss	1	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13	.		57
HP:0000572	HP:0000529	Progressive visual loss	1	CHM CL E G H	1121	1940	ORPHA:180	Choroideremia	HP:0040282 - Frequent		47
HP:0000572	HP:0000529	Progressive visual loss	1	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA	.		47
HP:0000572	HP:0000529	Progressive visual loss	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0000572	HP:0000529	Progressive visual loss	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000572	HP:0000529	Progressive visual loss	1	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.		141
HP:0000572	HP:0000529	Progressive visual loss	1	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6	.		143
HP:0000572	HP:0000529	Progressive visual loss	1	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8	.		111
HP:0000572	HP:0000529	Progressive visual loss	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent		111
HP:0000572	HP:0000529	Progressive visual loss	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040281 - Very frequent		129
HP:0000572	HP:0000529	Progressive visual loss	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent		177
HP:0000572	HP:0000529	Progressive visual loss	1	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000529	Progressive visual loss	1	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000529	Progressive visual loss	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000572	HP:0000529	Progressive visual loss	1	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy	.		126
HP:0000572	HP:0000529	Progressive visual loss	1	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000529	Progressive visual loss	1	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal	.		31
HP:0000572	HP:0000529	Progressive visual loss	1	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000529	Progressive visual loss	1	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5			94
HP:0000572	HP:0000529	Progressive visual loss	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0000572	HP:0000529	Progressive visual loss	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000572	HP:0000529	Progressive visual loss	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000572	HP:0000529	Progressive visual loss	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000572	HP:0000529	Progressive visual loss	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0000572	HP:0000529	Progressive visual loss	1	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy			24
HP:0000572	HP:0000529	Progressive visual loss	1	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3	.		24
HP:0000572	HP:0000529	Progressive visual loss	1	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy			124
HP:0000572	HP:0000529	Progressive visual loss	1	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1			262
HP:0000572	HP:0000529	Progressive visual loss	1	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80	.		148
HP:0000572	HP:0000529	Progressive visual loss	1	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		106
HP:0000572	HP:0000529	Progressive visual loss	1	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		61
HP:0000572	HP:0000529	Progressive visual loss	1	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000572	HP:0000529	Progressive visual loss	1	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0000572	HP:0000529	Progressive visual loss	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000572	HP:0000529	Progressive visual loss	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040282 - Frequent		289
HP:0000572	HP:0000529	Progressive visual loss	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		462
HP:0000572	HP:0000529	Progressive visual loss	1	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38	.		75
HP:0000572	HP:0000529	Progressive visual loss	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000572	HP:0000529	Progressive visual loss	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent		81
HP:0000572	HP:0200068	Nonprogressive visual loss	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.		25
HP:0000572	HP:0000529	Progressive visual loss	1	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000529	Progressive visual loss	1	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000529	Progressive visual loss	1	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000529	Progressive visual loss	1	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000529	Progressive visual loss	1	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000529	Progressive visual loss	1	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0000572	HP:0000529	Progressive visual loss	1	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy			65
HP:0000572	HP:0000529	Progressive visual loss	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0000572	HP:0000529	Progressive visual loss	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent		43
HP:0000572	HP:0000529	Progressive visual loss	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent		1952
HP:0000572	HP:0000529	Progressive visual loss	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000572	HP:0000529	Progressive visual loss	1	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		85
HP:0000572	HP:0000529	Progressive visual loss	1	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		157
HP:0000572	HP:0000529	Progressive visual loss	1	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		220
HP:0000572	HP:0000529	Progressive visual loss	1	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040281 - Very frequent		94
HP:0000572	HP:0000529	Progressive visual loss	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040281 - Very frequent		214
HP:0000572	HP:0000529	Progressive visual loss	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.		214
HP:0000572	HP:0000529	Progressive visual loss	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent
HP:0000572	HP:0000529	Progressive visual loss	1	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.		11
HP:0000572	HP:0000529	Progressive visual loss	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000572	HP:0000529	Progressive visual loss	1	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040283 - Occasional		72
HP:0000572	HP:0000529	Progressive visual loss	1	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040283 - Occasional		45
HP:0000572	HP:0000529	Progressive visual loss	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000572	HP:0000529	Progressive visual loss	1	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0000572	HP:0000529	Progressive visual loss	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0000572	HP:0000529	Progressive visual loss	1	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy			159
HP:0000572	HP:0000529	Progressive visual loss	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		159
HP:0000572	HP:0000529	Progressive visual loss	1	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0000572	HP:0000529	Progressive visual loss	1	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11			52
HP:0000572	HP:0000529	Progressive visual loss	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0000572	HP:0000529	Progressive visual loss	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		32
HP:0000572	HP:0000529	Progressive visual loss	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		107
HP:0000572	HP:0000529	Progressive visual loss	1	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040281 - Very frequent		47
HP:0000572	HP:0000529	Progressive visual loss	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		47
HP:0000572	HP:0000529	Progressive visual loss	1	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD			284
HP:0000572	HP:0000529	Progressive visual loss	1	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000572	HP:0000529	Progressive visual loss	1	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		61
HP:0000572	HP:0000529	Progressive visual loss	1	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10	.		48
HP:0000572	HP:0000529	Progressive visual loss	1	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism	HP:0040283 - Occasional		177
HP:0000572	HP:0000529	Progressive visual loss	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.		14
HP:0000572	HP:0000529	Progressive visual loss	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000572	HP:0000529	Progressive visual loss	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000572	HP:0000529	Progressive visual loss	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000572	HP:0000529	Progressive visual loss	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000572	HP:0000529	Progressive visual loss	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000572	HP:0000529	Progressive visual loss	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.		26
HP:0000572	HP:0000529	Progressive visual loss	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000572	HP:0000529	Progressive visual loss	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000572	HP:0000529	Progressive visual loss	1	TGFBI CL E G H	7045	11771	OMIM:122200	Corneal dystrophy, lattice type I	.		58
HP:0000572	HP:0000529	Progressive visual loss	1	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0000572	HP:0000529	Progressive visual loss	1	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy			58
HP:0000572	HP:0000529	Progressive visual loss	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0000572	HP:0000529	Progressive visual loss	1	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2	.		203
HP:0000572	HP:0000529	Progressive visual loss	1	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		6
HP:0000572	HP:0000529	Progressive visual loss	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000572	HP:0000529	Progressive visual loss	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.		56
HP:0000572	HP:0000529	Progressive visual loss	1	TRIM44 CL E G H	54765	19016	OMIM:617142	Aniridia 3	.		1
HP:0000572	HP:0000529	Progressive visual loss	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.		21
HP:0000572	HP:0000529	Progressive visual loss	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000572	HP:0000529	Progressive visual loss	1	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		95
HP:0000572	HP:0000529	Progressive visual loss	1	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6	.		14
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		276
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		88
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5	.		94
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent		76
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		24
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		124
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent		65
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		159
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11	.		52
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD			284
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040283 - Occasional		58
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy	HP:0040281 - Very frequent		58
HP:0000572	HP:0007924	Slow decrease in visual acuity	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional