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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 | 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 |
| C0028738 | Nystagmus | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0028738 | Nystagmus | RPIA | 22934 | ribose 5-phosphate isomerase A | P49247 |
| C0028738 | Nystagmus | IDH3A | 3419 | isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | P50213 |
| C0028738 | Nystagmus | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0028738 | Nystagmus | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
