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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 |
|---|---|---|---|---|---|
| C0007758 | Cerebellar Ataxia | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0007758 | Cerebellar Ataxia | ENO2 | 2026 | enolase 2 | P09104 |
| C0007758 | Cerebellar Ataxia | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0007758 | Cerebellar Ataxia | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0007758 | Cerebellar Ataxia | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0007758 | Cerebellar Ataxia | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0007758 | Cerebellar Ataxia | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0007758 | Cerebellar Ataxia | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0007758 | Cerebellar Ataxia | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C0007758 | Cerebellar Ataxia | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0007758 | Cerebellar Ataxia | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0007758 | Cerebellar Ataxia | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0007758 | Cerebellar Ataxia | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0007758 | Cerebellar Ataxia | PRNP | 5621 | prion protein | P04156 |
| C0007758 | Cerebellar Ataxia | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0007758 | Cerebellar Ataxia | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0007758 | Cerebellar Ataxia | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0007758 | Cerebellar Ataxia | CAT | 847 | catalase | P04040 |
| C0007758 | Cerebellar Ataxia | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0007758 | Cerebellar Ataxia | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0007758 | Cerebellar Ataxia | PPT2 | 9374 | palmitoyl-protein thioesterase 2 | Q9UMR5 |
| C0007758 | Cerebellar Ataxia | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0007758 | Cerebellar Ataxia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0007758 | Cerebellar Ataxia | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0007758 | Cerebellar Ataxia | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
