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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 |
|---|---|---|---|---|---|
| C0752125 | Spinocerebellar Ataxia Type 7 | PRNP | 5621 | prion protein | P04156 |
| C0752125 | Spinocerebellar Ataxia Type 7 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0752125 | Spinocerebellar Ataxia Type 7 | ENPP2 | 5168 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | Q13822 |
| C0752125 | Spinocerebellar Ataxia Type 7 | PRNP | 5621 | prion protein | F7VJQ1 |
| C0752130 | Spinal Cord Ischemia | CD38 | 952 | CD38 molecule | P28907 |
| C0752130 | Spinal Cord Ischemia | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0752130 | Spinal Cord Ischemia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0752130 | Spinal Cord Ischemia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0752130 | Spinal Cord Ischemia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0752143 | Intracranial Thrombosis | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0752166 | Bardet-Biedl Syndrome | PIGX | 54965 | phosphatidylinositol glycan anchor biosynthesis class X | Q8TBF5 |
| C0752166 | Bardet-Biedl Syndrome | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0752197 | Adult-Onset Dystonias | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0752202 | Childhood Onset Dystonias | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0752202 | Childhood Onset Dystonias | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0752203 | Dystonia, Primary | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0752205 | Dystonia, Secondary | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0752206 | Dystonias, Sporadic | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0752207 | Familial Dystonia | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0752208 | Pseudodystonia | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0752235 | Lyme Neuroborreliosis | FOLR2 | 2350 | folate receptor beta | P14207 |
| C0752282 | Congenital Structural Myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0752282 | Congenital Structural Myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0752282 | Congenital Structural Myopathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0752347 | Lewy Body Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
