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:0011486	HP:0011486	Abnormality of corneal thickness	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa		826
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa		2
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa		175
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa		2
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis		114
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4		114
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa		6
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa		3
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa		1
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa		29
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa		114
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa		97
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa		182
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa		23
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa		147
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis		342
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa		71
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA		9
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy		129
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa		60
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa		44
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa		164
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis		156
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8		156
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa		156
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis		158
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7		158
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa		158
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal		31
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa		47
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa		1
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa		209
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa		56
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa		26
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis		64
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome		7
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa		36
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis		124
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I		124
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa		86
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa		30
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis		148
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa		148
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa		48
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa		3
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis		52
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa		52
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa		4
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa		120
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis		61
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis		42
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2		8
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa		3
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa		42
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis		70
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis		62
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa		62
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa		53
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa		75
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome		1
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa		5
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis		15
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa		58
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome		37
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa		30
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa		201
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis		11
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa		116
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa		126
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa		18
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa		180
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa		39
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome		58
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2		58
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa		110
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa		28
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa		70
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa		2
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa		51
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa		94
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa		159
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa		108
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis		95
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis		45
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa		45
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa		5
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa		28
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa		107
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa		47
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa		38
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa		111
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa		284
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa		45
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa		14
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis		129
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa		129
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa		200
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis		109
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6		109
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa		32
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa		48
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II		66
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	SLC4A11 CL E G H	83959	16438	OMIM:217700	CORNEAL ENDOTHELIAL DYSTROPHY; CHED		66
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa		4
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa		83
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis		48
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa		48
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa		61
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa		41
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa		1
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis		66
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa		66
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa		777
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	VSX1 CL E G H	30813	12723	OMIM:148300	Keratoconus 1		47
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa		14
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome		397
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome		397
HP:0011486	HP:0011486	Abnormality of corneal thickness	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa		27
HP:0011486	HP:0100689	Decreased corneal thickness	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa		826
HP:0011486	HP:0100689	Decreased corneal thickness	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa		2
HP:0011486	HP:0100689	Decreased corneal thickness	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa		175
HP:0011486	HP:0100689	Decreased corneal thickness	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa		2
HP:0011486	HP:0100689	Decreased corneal thickness	1	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis		114
HP:0011486	HP:0100689	Decreased corneal thickness	1	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4		114
HP:0011486	HP:0100689	Decreased corneal thickness	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0011486	HP:0100689	Decreased corneal thickness	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0011486	HP:0100689	Decreased corneal thickness	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0011486	HP:0100689	Decreased corneal thickness	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa		6
HP:0011486	HP:0100689	Decreased corneal thickness	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa		3
HP:0011486	HP:0100689	Decreased corneal thickness	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa		1
HP:0011486	HP:0100689	Decreased corneal thickness	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa		29
HP:0011486	HP:0100689	Decreased corneal thickness	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa		114
HP:0011486	HP:0100689	Decreased corneal thickness	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa		97
HP:0011486	HP:0100689	Decreased corneal thickness	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa		182
HP:0011486	HP:0100689	Decreased corneal thickness	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa		23
HP:0011486	HP:0100689	Decreased corneal thickness	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa		147
HP:0011486	HP:0100689	Decreased corneal thickness	1	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis		342
HP:0011486	HP:0100689	Decreased corneal thickness	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa		71
HP:0011486	HP:0100689	Decreased corneal thickness	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0011486	HP:0100689	Decreased corneal thickness	1	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA		9
HP:0011486	HP:0100689	Decreased corneal thickness	1	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy	HP:0040282 - Frequent	129
HP:0011486	HP:0100689	Decreased corneal thickness	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa		60
HP:0011486	HP:0100689	Decreased corneal thickness	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa		44
HP:0011486	HP:0100689	Decreased corneal thickness	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa		164
HP:0011486	HP:0100689	Decreased corneal thickness	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0011486	HP:0100689	Decreased corneal thickness	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0011486	HP:0100689	Decreased corneal thickness	1	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis		156
HP:0011486	HP:0100689	Decreased corneal thickness	1	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8		156
HP:0011486	HP:0100689	Decreased corneal thickness	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa		156
HP:0011486	HP:0100689	Decreased corneal thickness	1	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis		158
HP:0011486	HP:0100689	Decreased corneal thickness	1	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7		158
HP:0011486	HP:0100689	Decreased corneal thickness	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa		158
HP:0011486	HP:0011487	Increased corneal thickness	1	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal	.	31
HP:0011486	HP:0100689	Decreased corneal thickness	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0011486	HP:0100689	Decreased corneal thickness	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa		47
HP:0011486	HP:0100689	Decreased corneal thickness	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa		1
HP:0011486	HP:0100689	Decreased corneal thickness	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa		209
HP:0011486	HP:0100689	Decreased corneal thickness	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa		56
HP:0011486	HP:0011487	Increased corneal thickness	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	17
HP:0011486	HP:0011487	Increased corneal thickness	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	175
HP:0011486	HP:0011487	Increased corneal thickness	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	145
HP:0011486	HP:0100689	Decreased corneal thickness	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa		26
HP:0011486	HP:0100689	Decreased corneal thickness	1	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis		64
HP:0011486	HP:0100689	Decreased corneal thickness	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome		7
HP:0011486	HP:0100689	Decreased corneal thickness	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa		36
HP:0011486	HP:0100689	Decreased corneal thickness	1	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis		124
HP:0011486	HP:0100689	Decreased corneal thickness	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I		124
HP:0011486	HP:0100689	Decreased corneal thickness	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa		86
HP:0011486	HP:0100689	Decreased corneal thickness	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0011486	HP:0100689	Decreased corneal thickness	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0011486	HP:0100689	Decreased corneal thickness	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa		30
HP:0011486	HP:0100689	Decreased corneal thickness	1	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis		148
HP:0011486	HP:0100689	Decreased corneal thickness	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa		148
HP:0011486	HP:0100689	Decreased corneal thickness	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa		48
HP:0011486	HP:0100689	Decreased corneal thickness	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa		3
HP:0011486	HP:0100689	Decreased corneal thickness	1	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis		52
HP:0011486	HP:0100689	Decreased corneal thickness	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa		52
HP:0011486	HP:0100689	Decreased corneal thickness	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa		4
HP:0011486	HP:0100689	Decreased corneal thickness	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa		120
HP:0011486	HP:0100689	Decreased corneal thickness	1	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis		61
HP:0011486	HP:0100689	Decreased corneal thickness	1	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis		42
HP:0011486	HP:0100689	Decreased corneal thickness	1	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2	.	8
HP:0011486	HP:0100689	Decreased corneal thickness	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0011486	HP:0100689	Decreased corneal thickness	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa		3
HP:0011486	HP:0100689	Decreased corneal thickness	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa		42
HP:0011486	HP:0100689	Decreased corneal thickness	1	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis		70
HP:0011486	HP:0100689	Decreased corneal thickness	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0011486	HP:0100689	Decreased corneal thickness	1	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis		62
HP:0011486	HP:0100689	Decreased corneal thickness	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa		62
HP:0011486	HP:0100689	Decreased corneal thickness	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa		53
HP:0011486	HP:0100689	Decreased corneal thickness	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa		75
HP:0011486	HP:0100689	Decreased corneal thickness	1	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome		1
HP:0011486	HP:0100689	Decreased corneal thickness	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa		5
HP:0011486	HP:0100689	Decreased corneal thickness	1	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis		15
HP:0011486	HP:0100689	Decreased corneal thickness	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0011486	HP:0100689	Decreased corneal thickness	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa		58
HP:0011486	HP:0100689	Decreased corneal thickness	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome		37
HP:0011486	HP:0100689	Decreased corneal thickness	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa		30
HP:0011486	HP:0100689	Decreased corneal thickness	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa		201
HP:0011486	HP:0100689	Decreased corneal thickness	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0011486	HP:0100689	Decreased corneal thickness	1	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis		11
HP:0011486	HP:0100689	Decreased corneal thickness	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa		116
HP:0011486	HP:0100689	Decreased corneal thickness	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa		126
HP:0011486	HP:0100689	Decreased corneal thickness	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa		18
HP:0011486	HP:0100689	Decreased corneal thickness	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0011486	HP:0100689	Decreased corneal thickness	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0011486	HP:0100689	Decreased corneal thickness	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa		180
HP:0011486	HP:0100689	Decreased corneal thickness	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa		39
HP:0011486	HP:0100689	Decreased corneal thickness	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040281 - Very frequent	58
HP:0011486	HP:0100689	Decreased corneal thickness	1	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	.	58
HP:0011486	HP:0100689	Decreased corneal thickness	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa		110
HP:0011486	HP:0100689	Decreased corneal thickness	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa		28
HP:0011486	HP:0100689	Decreased corneal thickness	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa		70
HP:0011486	HP:0100689	Decreased corneal thickness	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa		2
HP:0011486	HP:0100689	Decreased corneal thickness	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa		51
HP:0011486	HP:0100689	Decreased corneal thickness	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa		94
HP:0011486	HP:0100689	Decreased corneal thickness	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa		159
HP:0011486	HP:0100689	Decreased corneal thickness	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa		108
HP:0011486	HP:0100689	Decreased corneal thickness	1	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis		95
HP:0011486	HP:0100689	Decreased corneal thickness	1	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis		45
HP:0011486	HP:0100689	Decreased corneal thickness	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa		45
HP:0011486	HP:0100689	Decreased corneal thickness	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa		5
HP:0011486	HP:0100689	Decreased corneal thickness	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa		28
HP:0011486	HP:0100689	Decreased corneal thickness	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa		107
HP:0011486	HP:0100689	Decreased corneal thickness	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa		47
HP:0011486	HP:0100689	Decreased corneal thickness	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa		38
HP:0011486	HP:0100689	Decreased corneal thickness	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa		111
HP:0011486	HP:0100689	Decreased corneal thickness	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa		284
HP:0011486	HP:0100689	Decreased corneal thickness	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa		45
HP:0011486	HP:0100689	Decreased corneal thickness	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa		14
HP:0011486	HP:0100689	Decreased corneal thickness	1	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis		129
HP:0011486	HP:0100689	Decreased corneal thickness	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa		129
HP:0011486	HP:0100689	Decreased corneal thickness	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa		200
HP:0011486	HP:0100689	Decreased corneal thickness	1	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis		109
HP:0011486	HP:0100689	Decreased corneal thickness	1	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6		109
HP:0011486	HP:0100689	Decreased corneal thickness	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa		32
HP:0011486	HP:0100689	Decreased corneal thickness	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0011486	HP:0100689	Decreased corneal thickness	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa		48
HP:0011486	HP:0100689	Decreased corneal thickness	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0011486	HP:0100689	Decreased corneal thickness	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0011486	HP:0011487	Increased corneal thickness	1	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II	HP:0040281 - Very frequent	66
HP:0011486	HP:0011487	Increased corneal thickness	1	SLC4A11 CL E G H	83959	16438	OMIM:217700	CORNEAL ENDOTHELIAL DYSTROPHY; CHED		66
HP:0011486	HP:0100689	Decreased corneal thickness	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa		4
HP:0011486	HP:0100689	Decreased corneal thickness	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa		83
HP:0011486	HP:0100689	Decreased corneal thickness	1	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis		48
HP:0011486	HP:0100689	Decreased corneal thickness	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa		48
HP:0011486	HP:0100689	Decreased corneal thickness	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa		61
HP:0011486	HP:0100689	Decreased corneal thickness	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa		41
HP:0011486	HP:0100689	Decreased corneal thickness	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa		1
HP:0011486	HP:0100689	Decreased corneal thickness	1	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0011486	HP:0100689	Decreased corneal thickness	1	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis		66
HP:0011486	HP:0100689	Decreased corneal thickness	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa		66
HP:0011486	HP:0100689	Decreased corneal thickness	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa		777
HP:0011486	HP:0100689	Decreased corneal thickness	1	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0011486	HP:0100689	Decreased corneal thickness	1	VSX1 CL E G H	30813	12723	OMIM:148300	Keratoconus 1		47
HP:0011486	HP:0100689	Decreased corneal thickness	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa		14
HP:0011486	HP:0100689	Decreased corneal thickness	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome		397
HP:0011486	HP:0100689	Decreased corneal thickness	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040281 - Very frequent	397
HP:0011486	HP:0100689	Decreased corneal thickness	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa		27
HP:0011486	HP:0000563	Keratoconus	2	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	826
HP:0011486	HP:0000563	Keratoconus	2	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	2
HP:0011486	HP:0000563	Keratoconus	2	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	175
HP:0011486	HP:0000563	Keratoconus	2	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	2
HP:0011486	HP:0000563	Keratoconus	2	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	114
HP:0011486	HP:0000563	Keratoconus	2	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	HP:0040283 - Occasional	114
HP:0011486	HP:0000563	Keratoconus	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0011486	HP:0000563	Keratoconus	2	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040282 - Frequent	8
HP:0011486	HP:0000563	Keratoconus	2	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0011486	HP:0000563	Keratoconus	2	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	6
HP:0011486	HP:0000563	Keratoconus	2	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	3
HP:0011486	HP:0000563	Keratoconus	2	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	1
HP:0011486	HP:0000563	Keratoconus	2	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	29
HP:0011486	HP:0000563	Keratoconus	2	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	114
HP:0011486	HP:0000563	Keratoconus	2	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	97
HP:0011486	HP:0000563	Keratoconus	2	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	182
HP:0011486	HP:0000563	Keratoconus	2	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	23
HP:0011486	HP:0000563	Keratoconus	2	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	147
HP:0011486	HP:0000563	Keratoconus	2	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	342
HP:0011486	HP:0000563	Keratoconus	2	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	71
HP:0011486	HP:0000563	Keratoconus	2	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0011486	HP:0000563	Keratoconus	2	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	60
HP:0011486	HP:0000563	Keratoconus	2	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	44
HP:0011486	HP:0000563	Keratoconus	2	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	164
HP:0011486	HP:0000563	Keratoconus	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0011486	HP:0000563	Keratoconus	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0011486	HP:0000563	Keratoconus	2	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	156
HP:0011486	HP:0000563	Keratoconus	2	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8	.	156
HP:0011486	HP:0000563	Keratoconus	2	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	156
HP:0011486	HP:0000563	Keratoconus	2	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	158
HP:0011486	HP:0000563	Keratoconus	2	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7	.	158
HP:0011486	HP:0000563	Keratoconus	2	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	158
HP:0011486	HP:0000563	Keratoconus	2	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	47
HP:0011486	HP:0000563	Keratoconus	2	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	1
HP:0011486	HP:0000563	Keratoconus	2	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	209
HP:0011486	HP:0000563	Keratoconus	2	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	56
HP:0011486	HP:0000563	Keratoconus	2	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	26
HP:0011486	HP:0000563	Keratoconus	2	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	64
HP:0011486	HP:0000563	Keratoconus	2	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040283 - Occasional	7
HP:0011486	HP:0000563	Keratoconus	2	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	36
HP:0011486	HP:0000563	Keratoconus	2	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	124
HP:0011486	HP:0000563	Keratoconus	2	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.	124
HP:0011486	HP:0000563	Keratoconus	2	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	86
HP:0011486	HP:0000563	Keratoconus	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:0011486	HP:0000563	Keratoconus	2	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0011486	HP:0000563	Keratoconus	2	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	30
HP:0011486	HP:0000563	Keratoconus	2	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	148
HP:0011486	HP:0000563	Keratoconus	2	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	148
HP:0011486	HP:0000563	Keratoconus	2	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	48
HP:0011486	HP:0000563	Keratoconus	2	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	3
HP:0011486	HP:0000563	Keratoconus	2	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	52
HP:0011486	HP:0000563	Keratoconus	2	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	52
HP:0011486	HP:0000563	Keratoconus	2	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	4
HP:0011486	HP:0000563	Keratoconus	2	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	120
HP:0011486	HP:0000563	Keratoconus	2	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	61
HP:0011486	HP:0000563	Keratoconus	2	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	42
HP:0011486	HP:0000563	Keratoconus	2	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0011486	HP:0000563	Keratoconus	2	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	3
HP:0011486	HP:0000563	Keratoconus	2	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	42
HP:0011486	HP:0000563	Keratoconus	2	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	70
HP:0011486	HP:0000563	Keratoconus	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0011486	HP:0000563	Keratoconus	2	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	62
HP:0011486	HP:0000563	Keratoconus	2	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	62
HP:0011486	HP:0000563	Keratoconus	2	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	53
HP:0011486	HP:0000563	Keratoconus	2	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	75
HP:0011486	HP:0000563	Keratoconus	2	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome	HP:0040283 - Occasional	1
HP:0011486	HP:0000563	Keratoconus	2	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	5
HP:0011486	HP:0000563	Keratoconus	2	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	15
HP:0011486	HP:0000563	Keratoconus	2	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0011486	HP:0000563	Keratoconus	2	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	58
HP:0011486	HP:0000563	Keratoconus	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040284 - Very rare	37
HP:0011486	HP:0000563	Keratoconus	2	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	30
HP:0011486	HP:0000563	Keratoconus	2	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	201
HP:0011486	HP:0000563	Keratoconus	2	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0011486	HP:0000563	Keratoconus	2	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	11
HP:0011486	HP:0000563	Keratoconus	2	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	116
HP:0011486	HP:0000563	Keratoconus	2	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	126
HP:0011486	HP:0000563	Keratoconus	2	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	18
HP:0011486	HP:0000563	Keratoconus	2	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0011486	HP:0001119	Keratoglobus	2	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0011486	HP:0000563	Keratoconus	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0011486	HP:0000563	Keratoconus	2	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	180
HP:0011486	HP:0000563	Keratoconus	2	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	39
HP:0011486	HP:0001119	Keratoglobus	2	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040281 - Very frequent	58
HP:0011486	HP:0000563	Keratoconus	2	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	.	58
HP:0011486	HP:0001119	Keratoglobus	2	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	.	58
HP:0011486	HP:0000563	Keratoconus	2	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	110
HP:0011486	HP:0000563	Keratoconus	2	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	28
HP:0011486	HP:0000563	Keratoconus	2	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	70
HP:0011486	HP:0000563	Keratoconus	2	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	2
HP:0011486	HP:0000563	Keratoconus	2	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	51
HP:0011486	HP:0000563	Keratoconus	2	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	94
HP:0011486	HP:0000563	Keratoconus	2	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	159
HP:0011486	HP:0000563	Keratoconus	2	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	108
HP:0011486	HP:0000563	Keratoconus	2	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	95
HP:0011486	HP:0000563	Keratoconus	2	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	45
HP:0011486	HP:0000563	Keratoconus	2	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	45
HP:0011486	HP:0000563	Keratoconus	2	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	5
HP:0011486	HP:0000563	Keratoconus	2	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	28
HP:0011486	HP:0000563	Keratoconus	2	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	107
HP:0011486	HP:0000563	Keratoconus	2	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	47
HP:0011486	HP:0000563	Keratoconus	2	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	38
HP:0011486	HP:0000563	Keratoconus	2	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	111
HP:0011486	HP:0000563	Keratoconus	2	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	284
HP:0011486	HP:0000563	Keratoconus	2	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	45
HP:0011486	HP:0000563	Keratoconus	2	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	14
HP:0011486	HP:0000563	Keratoconus	2	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	129
HP:0011486	HP:0000563	Keratoconus	2	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	129
HP:0011486	HP:0000563	Keratoconus	2	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	200
HP:0011486	HP:0000563	Keratoconus	2	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	109
HP:0011486	HP:0000563	Keratoconus	2	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6	.	109
HP:0011486	HP:0000563	Keratoconus	2	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	32
HP:0011486	HP:0000563	Keratoconus	2	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0011486	HP:0000563	Keratoconus	2	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	48
HP:0011486	HP:0000563	Keratoconus	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0011486	HP:0000563	Keratoconus	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0011486	HP:0001119	Keratoglobus	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0011486	HP:0000563	Keratoconus	2	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	4
HP:0011486	HP:0000563	Keratoconus	2	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	83
HP:0011486	HP:0000563	Keratoconus	2	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	48
HP:0011486	HP:0000563	Keratoconus	2	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	48
HP:0011486	HP:0000563	Keratoconus	2	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	61
HP:0011486	HP:0000563	Keratoconus	2	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	41
HP:0011486	HP:0000563	Keratoconus	2	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	1
HP:0011486	HP:0000563	Keratoconus	2	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0011486	HP:0000563	Keratoconus	2	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	66
HP:0011486	HP:0000563	Keratoconus	2	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	66
HP:0011486	HP:0000563	Keratoconus	2	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	777
HP:0011486	HP:0000563	Keratoconus	2	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0011486	HP:0000563	Keratoconus	2	VSX1 CL E G H	30813	12723	OMIM:148300	Keratoconus 1	.	47
HP:0011486	HP:0000563	Keratoconus	2	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	14
HP:0011486	HP:0001119	Keratoglobus	2	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040281 - Very frequent	397
HP:0011486	HP:0001119	Keratoglobus	2	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397
HP:0011486	HP:0000563	Keratoconus	2	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397
HP:0011486	HP:0000563	Keratoconus	2	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	27