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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 |
|---|---|---|---|---|---|
| C0015397 | Disorder of eye | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0015397 | Disorder of eye | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0015397 | Disorder of eye | ENO1 | 2023 | enolase 1 | P06733 |
| C0015397 | Disorder of eye | ENO2 | 2026 | enolase 2 | P09104 |
| C0015397 | Disorder of eye | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0015397 | Disorder of eye | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0015397 | Disorder of eye | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0015397 | Disorder of eye | CDS2 | 8760 | CDP-diacylglycerol synthase 2 | O95674 |
| C0015397 | Disorder of eye | VCAN | 1462 | versican | P13611 |
| C0015397 | Disorder of eye | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0015397 | Disorder of eye | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0015397 | Disorder of eye | ARSI | 340075 | arylsulfatase family member I | Q5FYB1 |
| C0015397 | Disorder of eye | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0015397 | Disorder of eye | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0015397 | Disorder of eye | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0015397 | Disorder of eye | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0015397 | Disorder of eye | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0015397 | Disorder of eye | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0015397 | Disorder of eye | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0015397 | Disorder of eye | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0015397 | Disorder of eye | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0015397 | Disorder of eye | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0015397 | Disorder of eye | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0015397 | Disorder of eye | DGKG | 1608 | diacylglycerol kinase gamma | P49619 |
| C0015397 | Disorder of eye | PLA2G5 | 5322 | phospholipase A2 group V | P39877 |
