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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 |
|---|---|---|---|---|---|
| C0752121 | Spinocerebellar Ataxia Type 2 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0752121 | Spinocerebellar Ataxia Type 2 | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0752121 | Spinocerebellar Ataxia Type 2 | CAT | 847 | catalase | P04040 |
| C0752120 | Spinocerebellar Ataxia Type 1 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0752120 | Spinocerebellar Ataxia Type 1 | CAT | 847 | catalase | P04040 |
| C0752120 | Spinocerebellar Ataxia Type 1 | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0752120 | Spinocerebellar Ataxia Type 1 | GLO1 | 2739 | glyoxalase I | Q04760 |
| C0752048 | Hypocatalasemia | CAT | 847 | catalase | P04040 |
| C0751967 | Multiple Sclerosis, Relapsing-Remitting | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0751967 | Multiple Sclerosis, Relapsing-Remitting | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0751967 | Multiple Sclerosis, Relapsing-Remitting | SDC1 | 6382 | syndecan 1 | P18827 |
| C0751967 | Multiple Sclerosis, Relapsing-Remitting | KL | 9365 | klotho | Q9UEF7 |
| C0751967 | Multiple Sclerosis, Relapsing-Remitting | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0751967 | Multiple Sclerosis, Relapsing-Remitting | RTN4R | 65078 | reticulon 4 receptor | Q9BZR6 |
| C0751967 | Multiple Sclerosis, Relapsing-Remitting | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0751967 | Multiple Sclerosis, Relapsing-Remitting | CD14 | 929 | CD14 molecule | P08571 |
| C0751967 | Multiple Sclerosis, Relapsing-Remitting | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0751967 | Multiple Sclerosis, Relapsing-Remitting | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0751967 | Multiple Sclerosis, Relapsing-Remitting | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0751965 | Multiple Sclerosis, Secondary Progressive | LGALS3 | 3958 | galectin 3 | P17931 |
| C0751965 | Multiple Sclerosis, Secondary Progressive | RGMA | 56963 | repulsive guidance molecule BMP co-receptor a | Q96B86 |
| C0751965 | Multiple Sclerosis, Secondary Progressive | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0751956 | Acute Cerebrovascular Accidents | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0751956 | Acute Cerebrovascular Accidents | ENO2 | 2026 | enolase 2 | P09104 |
| C0751956 | Acute Cerebrovascular Accidents | ACE | 1636 | angiotensin I converting enzyme | P12821 |
