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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name ▲ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0009691 | Congenital cataract | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0009691 | Congenital cataract | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0009691 | Congenital cataract | LSS | 4047 | lanosterol synthase | P48449 |
| C0009691 | Congenital cataract | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0009691 | Congenital cataract | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0009691 | Congenital cataract | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1275808 | Congenital central hypoventilation | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0009081 | Congenital clubfoot | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0009081 | Congenital clubfoot | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0009081 | Congenital clubfoot | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C0009081 | Congenital clubfoot | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0009081 | Congenital clubfoot | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0009081 | Congenital clubfoot | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0009081 | Congenital clubfoot | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0009081 | Congenital clubfoot | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0009081 | Congenital clubfoot | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0009081 | Congenital clubfoot | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0009081 | Congenital clubfoot | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0009081 | Congenital clubfoot | GUSB | 2990 | glucuronidase beta | P08236 |
| C0009081 | Congenital clubfoot | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0009081 | Congenital clubfoot | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0009081 | Congenital clubfoot | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0009081 | Congenital clubfoot | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
| C0009081 | Congenital clubfoot | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0009081 | Congenital clubfoot | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
