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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0394005 | Ataxic cerebral palsy | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0394005 | Ataxic cerebral palsy | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0394005 | Ataxic cerebral palsy | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C1850554 | Atelosteogenesis type 2 | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C1850554 | Atelosteogenesis type 2 | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1850554 | Atelosteogenesis type 2 | ANXA5 | 308 | annexin A5 | P08758 |
| C0265283 | Atelosteogenesis, type 1 | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0264956 | Atheroma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
