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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 |
|---|---|---|---|---|---|
| C0752124 | Spinocerebellar Ataxia Type 6 (disorder) | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0752123 | Spinocerebellar Ataxia Type 5 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0752122 | Spinocerebellar Ataxia Type 4 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0752121 | Spinocerebellar Ataxia Type 2 | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0752121 | Spinocerebellar Ataxia Type 2 | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| 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 |
| C1304508 | Spindle cell hemangioma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1304508 | Spindle cell hemangioma | ANXA5 | 308 | annexin A5 | P08758 |
| C1304508 | Spindle cell hemangioma | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C1304508 | Spindle cell hemangioma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1304508 | Spindle cell hemangioma | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C1304508 | Spindle cell hemangioma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0158288 | Spinal stenosis of lumbar region | CAT | 847 | catalase | P04040 |
| C0158288 | Spinal stenosis of lumbar region | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0158288 | Spinal stenosis of lumbar region | LSS | 4047 | lanosterol synthase | P48449 |
| C0158288 | Spinal stenosis of lumbar region | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0158288 | Spinal stenosis of lumbar region | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0037939 | Spinal Neoplasms | ARSA | 410 | arylsulfatase A | P15289 |
| C0037939 | Spinal Neoplasms | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
