Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | AGBL1 CL E G H | 123624 | 615523 | Corneal dystrophy, Fuchs endothelial, 8 | 615523 | C3809798 | OMIM | 1 | 2 | 44 | 26504 | 615496 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | CHST6 CL E G H | 4166 | 217800 | Macular corneal dystrophy Type I | 217800 | C1636149 | OMIM | 1 | 178 | 251 | 6938 | 605294 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | COL8A2 CL E G H | 1296 | 136800 | Corneal dystrophy, Fuchs endothelial 1 | 136800 | C1850959 | OMIM | 1 | 8 | 18 | 2216 | 120252 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | COL8A2 CL E G H | 1296 | 609140 | Corneal dystrophy, posterior polymorphous, 2 | 609140 | C1852795 | OMIM | 1 | 8 | 18 | 2216 | 120252 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | EXOSC2 CL E G H | 23404 | 617763 | SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | 617763 | C4540367 | OMIM | 1 | 2 | 59 | 17097 | 602238 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | 966 | 728 | 4296 | 300644 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 1 | 966 | 728 | 4296 | 300644 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | KRT12 CL E G H | 3859 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | 25 | 35 | 6414 | 601687 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | KRT3 CL E G H | 3850 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | 4 | 26 | 6440 | 148043 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | MBTPS2 CL E G H | 51360 | 308800 | Keratosis pilaris decalvans | 308800 | C0343057 | OMIM | 1 | 26 | 207 | 15455 | 300294 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | PRDM5 CL E G H | 11107 | 90354 | | | | ORPHA | 1 | 13 | 131 | 9349 | 614161 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | SLC4A11 CL E G H | 83959 | 1490 | Congenital ichtyosiform erythroderma | | | ORPHA | 1 | 95 | 250 | 16438 | 610206 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | SLC4A11 CL E G H | 83959 | 217400 | Corneal dystrophy and perceptive deafness | 217400 | C1857572 | OMIM | 1 | 95 | 250 | 16438 | 610206 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | SLC4A11 CL E G H | 83959 | 613268 | Corneal dystrophy, Fuchs endothelial, 4 | 613268 | C2750450 | OMIM | 1 | 95 | 250 | 16438 | 610206 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | TACSTD2 CL E G H | 4070 | 204870 | Lattice corneal dystrophy Type III | 204870 | C0339273 | OMIM | 1 | 33 | 70 | 11530 | 137290 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | TGFBI CL E G H | 7045 | 121820 | Corneal epithelial dystrophy | 121820 | C0521723 | OMIM | 1 | 70 | 119 | 11771 | 601692 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | TGFBI CL E G H | 7045 | 608470 | Reis-Bucklers' corneal dystrophy | 608470 | C0339278 | OMIM | 1 | 70 | 119 | 11771 | 601692 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | TGFBI CL E G H | 7045 | 602082 | Thiel-Behnke corneal dystrophy | 602082 | C1562894 | OMIM | 1 | 70 | 119 | 11771 | 601692 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | UBIAD1 CL E G H | 29914 | 121800 | Schnyder crystalline corneal dystrophy | 121800 | C0271287 | OMIM | 1 | 30 | 144 | 30791 | 611632 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | ZEB1 CL E G H | 6935 | 613270 | Corneal dystrophy, Fuchs endothelial, 6 | 613270 | C2750448 | OMIM | 1 | 52 | 41 | 11642 | 189909 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | ZEB1 CL E G H | 6935 | 609141 | Posterior polymorphous corneal dystrophy 3 | 609141 | C1836724 | OMIM | 1 | 52 | 41 | 11642 | 189909 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | ZNF469 CL E G H | 84627 | 90354 | | | | ORPHA | 1 | 69 | 641 | 23216 | 612078 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | AGBL1 CL E G H | 123624 | 615523 | Corneal dystrophy, Fuchs endothelial, 8 | 615523 | C3809798 | OMIM | 1 | 2 | 44 | 26504 | 615496 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | CHST6 CL E G H | 4166 | 217800 | Macular corneal dystrophy Type I | 217800 | C1636149 | OMIM | 1 | 178 | 251 | 6938 | 605294 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | COL8A2 CL E G H | 1296 | 136800 | Corneal dystrophy, Fuchs endothelial 1 | 136800 | C1850959 | OMIM | 1 | 8 | 18 | 2216 | 120252 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | COL8A2 CL E G H | 1296 | 609140 | Corneal dystrophy, posterior polymorphous, 2 | 609140 | C1852795 | OMIM | 1 | 8 | 18 | 2216 | 120252 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | EXOSC2 CL E G H | 23404 | 617763 | SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | 617763 | C4540367 | OMIM | 1 | 2 | 59 | 17097 | 602238 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | 966 | 728 | 4296 | 300644 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 1 | 966 | 728 | 4296 | 300644 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | KRT12 CL E G H | 3859 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | 25 | 35 | 6414 | 601687 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | KRT3 CL E G H | 3850 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | 4 | 26 | 6440 | 148043 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | MBTPS2 CL E G H | 51360 | 308800 | Keratosis pilaris decalvans | 308800 | C0343057 | OMIM | 1 | 26 | 207 | 15455 | 300294 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | PRDM5 CL E G H | 11107 | 90354 | | | | ORPHA | 1 | 13 | 131 | 9349 | 614161 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | SLC4A11 CL E G H | 83959 | 1490 | Congenital ichtyosiform erythroderma | | | ORPHA | 1 | 95 | 250 | 16438 | 610206 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | SLC4A11 CL E G H | 83959 | 217400 | Corneal dystrophy and perceptive deafness | 217400 | C1857572 | OMIM | 1 | 95 | 250 | 16438 | 610206 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | SLC4A11 CL E G H | 83959 | 613268 | Corneal dystrophy, Fuchs endothelial, 4 | 613268 | C2750450 | OMIM | 1 | 95 | 250 | 16438 | 610206 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | TACSTD2 CL E G H | 4070 | 204870 | Lattice corneal dystrophy Type III | 204870 | C0339273 | OMIM | 1 | 33 | 70 | 11530 | 137290 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | TGFBI CL E G H | 7045 | 121820 | Corneal epithelial dystrophy | 121820 | C0521723 | OMIM | 1 | 70 | 119 | 11771 | 601692 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | TGFBI CL E G H | 7045 | 608470 | Reis-Bucklers' corneal dystrophy | 608470 | C0339278 | OMIM | 1 | 70 | 119 | 11771 | 601692 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | TGFBI CL E G H | 7045 | 602082 | Thiel-Behnke corneal dystrophy | 602082 | C1562894 | OMIM | 1 | 70 | 119 | 11771 | 601692 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | UBIAD1 CL E G H | 29914 | 121800 | Schnyder crystalline corneal dystrophy | 121800 | C0271287 | OMIM | 1 | 30 | 144 | 30791 | 611632 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | ZEB1 CL E G H | 6935 | 613270 | Corneal dystrophy, Fuchs endothelial, 6 | 613270 | C2750448 | OMIM | 1 | 52 | 41 | 11642 | 189909 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | ZEB1 CL E G H | 6935 | 609141 | Posterior polymorphous corneal dystrophy 3 | 609141 | C1836724 | OMIM | 1 | 52 | 41 | 11642 | 189909 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | ZNF469 CL E G H | 84627 | 90354 | | | | ORPHA | 1 | 69 | 641 | 23216 | 612078 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | AGBL1 CL E G H | 123624 | 615523 | Corneal dystrophy, Fuchs endothelial, 8 | 615523 | C3809798 | OMIM | 1 | 2 | 44 | 26504 | 615496 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | CHST6 CL E G H | 4166 | 217800 | Macular corneal dystrophy Type I | 217800 | C1636149 | OMIM | 1 | 178 | 251 | 6938 | 605294 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | COL8A2 CL E G H | 1296 | 136800 | Corneal dystrophy, Fuchs endothelial 1 | 136800 | C1850959 | OMIM | 1 | 8 | 18 | 2216 | 120252 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | COL8A2 CL E G H | 1296 | 609140 | Corneal dystrophy, posterior polymorphous, 2 | 609140 | C1852795 | OMIM | 1 | 8 | 18 | 2216 | 120252 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | EXOSC2 CL E G H | 23404 | 617763 | SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | 617763 | C4540367 | OMIM | 1 | 2 | 59 | 17097 | 602238 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | 966 | 728 | 4296 | 300644 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 1 | 966 | 728 | 4296 | 300644 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | KRT12 CL E G H | 3859 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | 25 | 35 | 6414 | 601687 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | KRT3 CL E G H | 3850 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | 4 | 26 | 6440 | 148043 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | MBTPS2 CL E G H | 51360 | 308800 | Keratosis pilaris decalvans | 308800 | C0343057 | OMIM | 1 | 26 | 207 | 15455 | 300294 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | PRDM5 CL E G H | 11107 | 90354 | | | | ORPHA | 1 | 13 | 131 | 9349 | 614161 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | SLC4A11 CL E G H | 83959 | 1490 | Congenital ichtyosiform erythroderma | | | ORPHA | 1 | 95 | 250 | 16438 | 610206 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | SLC4A11 CL E G H | 83959 | 217400 | Corneal dystrophy and perceptive deafness | 217400 | C1857572 | OMIM | 1 | 95 | 250 | 16438 | 610206 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | SLC4A11 CL E G H | 83959 | 613268 | Corneal dystrophy, Fuchs endothelial, 4 | 613268 | C2750450 | OMIM | 1 | 95 | 250 | 16438 | 610206 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | TACSTD2 CL E G H | 4070 | 204870 | Lattice corneal dystrophy Type III | 204870 | C0339273 | OMIM | 1 | 33 | 70 | 11530 | 137290 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | TGFBI CL E G H | 7045 | 121820 | Corneal epithelial dystrophy | 121820 | C0521723 | OMIM | 1 | 70 | 119 | 11771 | 601692 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | TGFBI CL E G H | 7045 | 608470 | Reis-Bucklers' corneal dystrophy | 608470 | C0339278 | OMIM | 1 | 70 | 119 | 11771 | 601692 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | TGFBI CL E G H | 7045 | 602082 | Thiel-Behnke corneal dystrophy | 602082 | C1562894 | OMIM | 1 | 70 | 119 | 11771 | 601692 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | UBIAD1 CL E G H | 29914 | 121800 | Schnyder crystalline corneal dystrophy | 121800 | C0271287 | OMIM | 1 | 30 | 144 | 30791 | 611632 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | ZEB1 CL E G H | 6935 | 613270 | Corneal dystrophy, Fuchs endothelial, 6 | 613270 | C2750448 | OMIM | 1 | 52 | 41 | 11642 | 189909 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | ZEB1 CL E G H | 6935 | 609141 | Posterior polymorphous corneal dystrophy 3 | 609141 | C1836724 | OMIM | 1 | 52 | 41 | 11642 | 189909 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | ZNF469 CL E G H | 84627 | 90354 | | | | ORPHA | 1 | 69 | 641 | 23216 | 612078 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | AGK CL E G H | 55750 | 1369 | | | | ORPHA | 0 | 27 | 186 | 21869 | 610345 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | COL1A1 CL E G H | 1277 | 287 | | | | ORPHA | 0 | 967 | 1105 | 2197 | 120150 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | COL5A1 CL E G H | 1289 | 287 | | | | ORPHA | 0 | 159 | 1630 | 2209 | 120215 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | COL5A2 CL E G H | 1290 | 287 | | | | ORPHA | 0 | 39 | 793 | 2210 | 120190 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | CRYAA CL E G H | 1409 | 1377 | | | | ORPHA | 0 | 27 | 129 | 2388 | 123580 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | CRYBA4 CL E G H | 1413 | 1377 | | | | ORPHA | 0 | 10 | 84 | 2396 | 123631 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | CRYBB1 CL E G H | 1414 | 1377 | | | | ORPHA | 0 | 20 | 65 | 2397 | 600929 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | CRYBB2 CL E G H | 1415 | 1377 | | | | ORPHA | 0 | 27 | 53 | 2398 | 123620 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | CRYGC CL E G H | 1420 | 1377 | | | | ORPHA | 0 | 28 | 50 | 2410 | 123680 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | CRYGD CL E G H | 1421 | 1377 | | | | ORPHA | 0 | 27 | 73 | 2411 | 123690 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | GJA8 CL E G H | 2703 | 1377 | | | | ORPHA | 0 | 63 | 347 | 4281 | 600897 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | 6 | 58 | 4390 | 600998 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | GNPTAB CL E G H | 79158 | 576 | | | | ORPHA | 0 | 188 | 462 | 29670 | 607840 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | KRT16 CL E G H | 3868 | 2309 | Fetal parainfluenza virus type 3 syndrome | | | ORPHA | 0 | 31 | 59 | 6423 | 148067 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | KRT17 CL E G H | 3872 | 2309 | Fetal parainfluenza virus type 3 syndrome | | | ORPHA | 0 | 29 | 50 | 6427 | 148069 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | KRT6A CL E G H | 3853 | 2309 | Fetal parainfluenza virus type 3 syndrome | | | ORPHA | 0 | 47 | 67 | 6443 | 148041 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | KRT6B CL E G H | 3854 | 2309 | Fetal parainfluenza virus type 3 syndrome | | | ORPHA | 0 | 5 | 30 | 6444 | 148042 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | MAF CL E G H | 4094 | 1377 | | | | ORPHA | 0 | 22 | 172 | 6776 | 177075 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | OPN1LW CL E G H | 5956 | 16 | | | | ORPHA | 0 | 63 | 250 | 9936 | 300822 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | OPN1MW CL E G H | 2652 | 16 | | | | ORPHA | 0 | 21 | 240 | 4206 | 300821 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | PLOD1 CL E G H | 5351 | 1900 | | | | ORPHA | 0 | 42 | 440 | 9081 | 153454 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 0 | SLC25A4 CL E G H | 291 | 1369 | | | | ORPHA | 0 | 17 | 234 | 10990 | 103220 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | AGK CL E G H | 55750 | 1369 | | | | ORPHA | 0 | 27 | 186 | 21869 | 610345 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | COL1A1 CL E G H | 1277 | 287 | | | | ORPHA | 0 | 967 | 1105 | 2197 | 120150 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | COL5A1 CL E G H | 1289 | 287 | | | | ORPHA | 0 | 159 | 1630 | 2209 | 120215 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | COL5A2 CL E G H | 1290 | 287 | | | | ORPHA | 0 | 39 | 793 | 2210 | 120190 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | CRYAA CL E G H | 1409 | 1377 | | | | ORPHA | 0 | 27 | 129 | 2388 | 123580 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | CRYBA4 CL E G H | 1413 | 1377 | | | | ORPHA | 0 | 10 | 84 | 2396 | 123631 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | CRYBB1 CL E G H | 1414 | 1377 | | | | ORPHA | 0 | 20 | 65 | 2397 | 600929 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | CRYBB2 CL E G H | 1415 | 1377 | | | | ORPHA | 0 | 27 | 53 | 2398 | 123620 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | CRYGC CL E G H | 1420 | 1377 | | | | ORPHA | 0 | 28 | 50 | 2410 | 123680 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | CRYGD CL E G H | 1421 | 1377 | | | | ORPHA | 0 | 27 | 73 | 2411 | 123690 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | GJA8 CL E G H | 2703 | 1377 | | | | ORPHA | 0 | 63 | 347 | 4281 | 600897 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | 6 | 58 | 4390 | 600998 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | GNPTAB CL E G H | 79158 | 576 | | | | ORPHA | 0 | 188 | 462 | 29670 | 607840 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | KRT16 CL E G H | 3868 | 2309 | Fetal parainfluenza virus type 3 syndrome | | | ORPHA | 0 | 31 | 59 | 6423 | 148067 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | KRT17 CL E G H | 3872 | 2309 | Fetal parainfluenza virus type 3 syndrome | | | ORPHA | 0 | 29 | 50 | 6427 | 148069 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | KRT6A CL E G H | 3853 | 2309 | Fetal parainfluenza virus type 3 syndrome | | | ORPHA | 0 | 47 | 67 | 6443 | 148041 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | KRT6B CL E G H | 3854 | 2309 | Fetal parainfluenza virus type 3 syndrome | | | ORPHA | 0 | 5 | 30 | 6444 | 148042 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | MAF CL E G H | 4094 | 1377 | | | | ORPHA | 0 | 22 | 172 | 6776 | 177075 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | OPN1LW CL E G H | 5956 | 16 | | | | ORPHA | 0 | 63 | 250 | 9936 | 300822 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | OPN1MW CL E G H | 2652 | 16 | | | | ORPHA | 0 | 21 | 240 | 4206 | 300821 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | PLOD1 CL E G H | 5351 | 1900 | | | | ORPHA | 0 | 42 | 440 | 9081 | 153454 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 1 | SLC25A4 CL E G H | 291 | 1369 | | | | ORPHA | 0 | 17 | 234 | 10990 | 103220 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | AGK CL E G H | 55750 | 1369 | | | | ORPHA | 0 | 27 | 186 | 21869 | 610345 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | COL1A1 CL E G H | 1277 | 287 | | | | ORPHA | 0 | 967 | 1105 | 2197 | 120150 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | COL5A1 CL E G H | 1289 | 287 | | | | ORPHA | 0 | 159 | 1630 | 2209 | 120215 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | COL5A2 CL E G H | 1290 | 287 | | | | ORPHA | 0 | 39 | 793 | 2210 | 120190 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | CRYAA CL E G H | 1409 | 1377 | | | | ORPHA | 0 | 27 | 129 | 2388 | 123580 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | CRYBA4 CL E G H | 1413 | 1377 | | | | ORPHA | 0 | 10 | 84 | 2396 | 123631 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | CRYBB1 CL E G H | 1414 | 1377 | | | | ORPHA | 0 | 20 | 65 | 2397 | 600929 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | CRYBB2 CL E G H | 1415 | 1377 | | | | ORPHA | 0 | 27 | 53 | 2398 | 123620 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | CRYGC CL E G H | 1420 | 1377 | | | | ORPHA | 0 | 28 | 50 | 2410 | 123680 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | CRYGD CL E G H | 1421 | 1377 | | | | ORPHA | 0 | 27 | 73 | 2411 | 123690 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | GJA8 CL E G H | 2703 | 1377 | | | | ORPHA | 0 | 63 | 347 | 4281 | 600897 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | 6 | 58 | 4390 | 600998 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | GNPTAB CL E G H | 79158 | 576 | | | | ORPHA | 0 | 188 | 462 | 29670 | 607840 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | KRT16 CL E G H | 3868 | 2309 | Fetal parainfluenza virus type 3 syndrome | | | ORPHA | 0 | 31 | 59 | 6423 | 148067 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | KRT17 CL E G H | 3872 | 2309 | Fetal parainfluenza virus type 3 syndrome | | | ORPHA | 0 | 29 | 50 | 6427 | 148069 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | KRT6A CL E G H | 3853 | 2309 | Fetal parainfluenza virus type 3 syndrome | | | ORPHA | 0 | 47 | 67 | 6443 | 148041 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | KRT6B CL E G H | 3854 | 2309 | Fetal parainfluenza virus type 3 syndrome | | | ORPHA | 0 | 5 | 30 | 6444 | 148042 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | MAF CL E G H | 4094 | 1377 | | | | ORPHA | 0 | 22 | 172 | 6776 | 177075 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | OPN1LW CL E G H | 5956 | 16 | | | | ORPHA | 0 | 63 | 250 | 9936 | 300822 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | OPN1MW CL E G H | 2652 | 16 | | | | ORPHA | 0 | 21 | 240 | 4206 | 300821 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | PLOD1 CL E G H | 5351 | 1900 | | | | ORPHA | 0 | 42 | 440 | 9081 | 153454 |
HP:0001131 | HP:0001131 | Corneal dystrophy | 2 | SLC25A4 CL E G H | 291 | 1369 | | | | ORPHA | 0 | 17 | 234 | 10990 | 103220 |