Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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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 | ORPHA:324 | Fabry disease | HP:0040281 - Very frequent | | | 291 | | |
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 | 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 | | | | | | | | | | |