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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 |
|---|---|---|---|---|---|
| C0028738 | Nystagmus | PLD3 | 23646 | phospholipase D family member 3 | Q8IV08 |
| C0028738 | Nystagmus | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0028738 | Nystagmus | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0028738 | Nystagmus | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0028738 | Nystagmus | AGRN | 375790 | agrin | O00468 |
| C0028738 | Nystagmus | STS | 412 | steroid sulfatase | P08842 |
| C0028738 | Nystagmus | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0028738 | Nystagmus | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0028738 | Nystagmus | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0028738 | Nystagmus | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0028738 | Nystagmus | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0028738 | Nystagmus | PRNP | 5621 | prion protein | P04156 |
| C0028738 | Nystagmus | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0028738 | Nystagmus | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0028738 | Nystagmus | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0028738 | Nystagmus | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0028738 | Nystagmus | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0028738 | Nystagmus | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0028738 | Nystagmus | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0028738 | Nystagmus | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0028738 | Nystagmus | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0028738 | Nystagmus | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0028738 | Nystagmus | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0028738 | Nystagmus | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0028738 | Nystagmus | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
