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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 |
|---|---|---|---|---|---|
| C0086543 | Cataract | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0086543 | Cataract | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0086543 | Cataract | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0086543 | Cataract | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0086543 | Cataract | TKFC | 26007 | triokinase and FMN cyclase | Q3LXA3 |
| C0086543 | Cataract | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0086543 | Cataract | IDH3A | 3419 | isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | P50213 |
| C0086543 | Cataract | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0086543 | Cataract | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0086543 | Cataract | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0086543 | Cataract | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0086543 | Cataract | RGN | 9104 | regucalcin | Q15493 |
| C0086543 | Cataract | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0086543 | Cataract | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0086543 | Cataract | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0086543 | Cataract | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0086543 | Cataract | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0086543 | Cataract | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0086543 | Cataract | ALDH3A1 | 218 | aldehyde dehydrogenase 3 family member A1 | P30838 |
| C0086543 | Cataract | FDFT1 | 2222 | farnesyl-diphosphate farnesyltransferase 1 | P37268 |
| C0086543 | Cataract | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0086543 | Cataract | KLRB1 | 3820 | killer cell lectin like receptor B1 | Q12918 |
| C0086543 | Cataract | LSS | 4047 | lanosterol synthase | P48449 |
| C0086543 | Cataract | ALDH6A1 | 4329 | aldehyde dehydrogenase 6 family member A1 | Q02252 |
| C0086543 | Cataract | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
