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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 | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0086543 | Cataract | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0086543 | Cataract | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0086543 | Cataract | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0086543 | Cataract | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0086543 | Cataract | VCAN | 1462 | versican | P13611 |
| C0086543 | Cataract | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0086543 | Cataract | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0086543 | Cataract | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C0086543 | Cataract | FH | 2271 | fumarate hydratase | P07954 |
| C0086543 | Cataract | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0086543 | Cataract | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C0086543 | Cataract | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0086543 | Cataract | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0086543 | Cataract | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0086543 | Cataract | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C0086543 | Cataract | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0086543 | Cataract | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0086543 | Cataract | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0086543 | Cataract | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0086543 | Cataract | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0086543 | Cataract | CAT | 847 | catalase | P04040 |
| C0086543 | Cataract | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0086543 | Cataract | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0086543 | Cataract | CD14 | 929 | CD14 molecule | P08571 |
