Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|---|---|
| C0394005 | Ataxic cerebral palsy | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0004138 | Ataxias, Hereditary | PRNP | 5621 | prion protein | P04156 |
| C0004138 | Ataxias, Hereditary | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0004138 | Ataxias, Hereditary | PRNP | 5621 | prion protein | F7VJQ1 |
| C0087012 | Ataxia, Spinocerebellar | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0087012 | Ataxia, Spinocerebellar | OGA | 10724 | O-GlcNAcase | O60502 |
| C0087012 | Ataxia, Spinocerebellar | TREH | 11181 | trehalase | O43280 |
| C0087012 | Ataxia, Spinocerebellar | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0087012 | Ataxia, Spinocerebellar | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C0087012 | Ataxia, Spinocerebellar | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0087012 | Ataxia, Spinocerebellar | PRNP | 5621 | prion protein | P04156 |
| C0087012 | Ataxia, Spinocerebellar | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0087012 | Ataxia, Spinocerebellar | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0087012 | Ataxia, Spinocerebellar | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0087012 | Ataxia, Spinocerebellar | CAT | 847 | catalase | P04040 |
| C0087012 | Ataxia, Spinocerebellar | GLO1 | 2739 | glyoxalase I | Q04760 |
| C0087012 | Ataxia, Spinocerebellar | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0087012 | Ataxia, Spinocerebellar | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751597 | Ataxia with Lactic Acidosis, Type I | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0751597 | Ataxia with Lactic Acidosis, Type I | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0004135 | Ataxia Telangiectasia | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0004135 | Ataxia Telangiectasia | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0004135 | Ataxia Telangiectasia | ARSA | 410 | arylsulfatase A | P15289 |
| C0004135 | Ataxia Telangiectasia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0004135 | Ataxia Telangiectasia | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
