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:0001131	HP:0001131	Corneal dystrophy	0	AGBL1 CL E G H	123624	26504	OMIM:615523	Corneal dystrophy, fuchs endothelial, 8	.	3
HP:0001131	HP:0001131	Corneal dystrophy	0	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040283 - Occasional	82
HP:0001131	HP:0001131	Corneal dystrophy	0	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA		9
HP:0001131	HP:0001131	Corneal dystrophy	0	CHST6 CL E G H	4166	6938	OMIM:217800	Macular dystrophy, corneal, 1	.	129
HP:0001131	HP:0001131	Corneal dystrophy	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040281 - Very frequent	129
HP:0001131	HP:0001131	Corneal dystrophy	0	COL8A2 CL E G H	1296	2216	OMIM:136800	Corneal dystrophy, fuchs endothelial, 1	.	3
HP:0001131	HP:0001131	Corneal dystrophy	0	COL8A2 CL E G H	1296	2216	OMIM:609140	Corneal dystrophy, posterior polymorphous, 2	.	3
HP:0001131	HP:0001131	Corneal dystrophy	0	CRYAA CL E G H	1409	2388	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional	33
HP:0001131	HP:0001131	Corneal dystrophy	0	CRYBA4 CL E G H	1413	2396	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional	10
HP:0001131	HP:0001131	Corneal dystrophy	0	CRYBB1 CL E G H	1414	2397	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional	18
HP:0001131	HP:0001131	Corneal dystrophy	0	CRYBB2 CL E G H	1415	2398	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional	13
HP:0001131	HP:0001131	Corneal dystrophy	0	CRYGC CL E G H	1420	2410	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional	11
HP:0001131	HP:0001131	Corneal dystrophy	0	CRYGD CL E G H	1421	2411	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional	29
HP:0001131	HP:0001131	Corneal dystrophy	0	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy		126
HP:0001131	HP:0001131	Corneal dystrophy	0	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal		31
HP:0001131	HP:0001131	Corneal dystrophy	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0001131	HP:0001131	Corneal dystrophy	0	GJA8 CL E G H	2703	4281	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional	34
HP:0001131	HP:0001131	Corneal dystrophy	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0001131	HP:0001131	Corneal dystrophy	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0001131	HP:0001131	Corneal dystrophy	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional	7
HP:0001131	HP:0001131	Corneal dystrophy	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0001131	HP:0001131	Corneal dystrophy	0	GSN CL E G H	2934	4620	OMIM:105120	Amyloidosis, Finnish type		53
HP:0001131	HP:0001131	Corneal dystrophy	0	KRT12 CL E G H	3859	6414	OMIM:122100	Meesmann corneal dystrophy 1		22
HP:0001131	HP:0001131	Corneal dystrophy	0	MAF CL E G H	4094	6776	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional	21
HP:0001131	HP:0001131	Corneal dystrophy	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0001131	HP:0001131	Corneal dystrophy	0	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism	HP:0040283 - Occasional	7
HP:0001131	HP:0001131	Corneal dystrophy	0	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism	HP:0040283 - Occasional	5
HP:0001131	HP:0001131	Corneal dystrophy	0	OSMR CL E G H	9180	8507	OMIM:105250	Amyloidosis, primary localized cutaneous, 1		5
HP:0001131	HP:0001131	Corneal dystrophy	0	PIKFYVE CL E G H	200576	23785	OMIM:121850	Corneal fleck dystrophy		112
HP:0001131	HP:0001131	Corneal dystrophy	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040281 - Very frequent	58
HP:0001131	HP:0001131	Corneal dystrophy	0	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040283 - Occasional	68
HP:0001131	HP:0001131	Corneal dystrophy	0	SLC4A11 CL E G H	83959	16438	OMIM:613268	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4		66
HP:0001131	HP:0001131	Corneal dystrophy	0	SLC4A11 CL E G H	83959	16438	ORPHA:1490	Corneal dystrophy-perceptive deafness syndrome	HP:0040281 - Very frequent	66
HP:0001131	HP:0001131	Corneal dystrophy	0	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness	.	66
HP:0001131	HP:0001131	Corneal dystrophy	0	SLC4A11 CL E G H	83959	16438	OMIM:217700	CORNEAL ENDOTHELIAL DYSTROPHY; CHED		66
HP:0001131	HP:0001131	Corneal dystrophy	0	TACSTD2 CL E G H	4070	11530	OMIM:204870	Corneal dystrophy, gelatinous drop-like	.	42
HP:0001131	HP:0001131	Corneal dystrophy	0	TGFBI CL E G H	7045	11771	OMIM:602082	Corneal dystrophy of bowman layer, type II	.	58
HP:0001131	HP:0001131	Corneal dystrophy	0	TGFBI CL E G H	7045	11771	OMIM:607541	Corneal dystrophy, Avellino type		58
HP:0001131	HP:0001131	Corneal dystrophy	0	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane	.	58
HP:0001131	HP:0001131	Corneal dystrophy	0	TGFBI CL E G H	7045	11771	OMIM:122200	Corneal dystrophy, lattice type I		58
HP:0001131	HP:0001131	Corneal dystrophy	0	TGFBI CL E G H	7045	11771	OMIM:608471	Corneal dystrophy, lattice type IIIA		58
HP:0001131	HP:0001131	Corneal dystrophy	0	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type	.	58
HP:0001131	HP:0001131	Corneal dystrophy	0	TGFBI CL E G H	7045	11771	ORPHA:98963	Granular corneal dystrophy type II		58
HP:0001131	HP:0001131	Corneal dystrophy	0	TGFBI CL E G H	7045	11771	OMIM:121900	Groenouw type I corneal dystrophy		58
HP:0001131	HP:0001131	Corneal dystrophy	0	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I		58
HP:0001131	HP:0001131	Corneal dystrophy	0	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040283 - Occasional
HP:0001131	HP:0001131	Corneal dystrophy	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0001131	HP:0001131	Corneal dystrophy	0	UBIAD1 CL E G H	29914	30791	OMIM:121800	Corneal dystrophy, crystalline, of schnyder	.	69
HP:0001131	HP:0001131	Corneal dystrophy	0	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6	.	8
HP:0001131	HP:0001131	Corneal dystrophy	0	ZEB1 CL E G H	6935	11642	OMIM:609141	Corneal dystrophy, posterior polymorphous, 3	.	8
HP:0001131	HP:0001131	Corneal dystrophy	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040281 - Very frequent	397
HP:0001131	HP:0007836	Mosaic corneal dystrophy	1	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA		9
HP:0001131	HP:0007880	Marginal corneal dystrophy	1	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy	.	126
HP:0001131	HP:0007709	Band-shaped corneal dystrophy	1	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal		31
HP:0001131	HP:0001149	Lattice corneal dystrophy	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040281 - Very frequent	53
HP:0001131	HP:0001149	Lattice corneal dystrophy	1	GSN CL E G H	2934	4620	OMIM:105120	Amyloidosis, Finnish type	.	53
HP:0001131	HP:0001149	Lattice corneal dystrophy	1	OSMR CL E G H	9180	8507	OMIM:105250	Amyloidosis, primary localized cutaneous, 1	.	5
HP:0001131	HP:0007962	Speckled corneal dystrophy	1	PIKFYVE CL E G H	200576	23785	OMIM:121850	Corneal fleck dystrophy	.	112
HP:0001131	HP:0001149	Lattice corneal dystrophy	1	TGFBI CL E G H	7045	11771	OMIM:607541	Corneal dystrophy, Avellino type	.	58
HP:0001131	HP:0001149	Lattice corneal dystrophy	1	TGFBI CL E G H	7045	11771	OMIM:122200	Corneal dystrophy, lattice type I	.	58
HP:0001131	HP:0001149	Lattice corneal dystrophy	1	TGFBI CL E G H	7045	11771	OMIM:608471	Corneal dystrophy, lattice type IIIA	.	58
HP:0001131	HP:0007802	Granular corneal dystrophy	1	TGFBI CL E G H	7045	11771	ORPHA:98963	Granular corneal dystrophy type II		58
HP:0001131	HP:0007809	Punctate corneal dystrophy	1	TGFBI CL E G H	7045	11771	OMIM:121900	Groenouw type I corneal dystrophy	.	58
HP:0001131	HP:0007802	Granular corneal dystrophy	1	TGFBI CL E G H	7045	11771	OMIM:121900	Groenouw type I corneal dystrophy	.	58
HP:0001131	HP:0001149	Lattice corneal dystrophy	1	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040281 - Very frequent	58
HP:0001131	HP:0100690	Mosaic central corneal dystrophy	2	CL E G H