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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 |
|---|---|---|---|---|---|
| C0751606 | Adult Acute Lymphocytic Leukemia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0751606 | Adult Acute Lymphocytic Leukemia | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C0751606 | Adult Acute Lymphocytic Leukemia | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0751617 | Semilobar Holoprosencephaly | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0751633 | Carotid Artery Plaque | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0751633 | Carotid Artery Plaque | LPL | 4023 | lipoprotein lipase | P06858 |
| C0751633 | Carotid Artery Plaque | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0751633 | Carotid Artery Plaque | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0751645 | Human Transmissible Spongiform Encephalopathies, Inherited | PRNP | 5621 | prion protein | P04156 |
| C0751645 | Human Transmissible Spongiform Encephalopathies, Inherited | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751651 | Mitochondrial Diseases | ARSA | 410 | arylsulfatase A | P15289 |
| C0751651 | Mitochondrial Diseases | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0751651 | Mitochondrial Diseases | CS | 1431 | citrate synthase | O75390 |
| C0751651 | Mitochondrial Diseases | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0751651 | Mitochondrial Diseases | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0751651 | Mitochondrial Diseases | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0751651 | Mitochondrial Diseases | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0751651 | Mitochondrial Diseases | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0751651 | Mitochondrial Diseases | FOLR2 | 2350 | folate receptor beta | P14207 |
| C0751651 | Mitochondrial Diseases | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0751651 | Mitochondrial Diseases | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0751651 | Mitochondrial Diseases | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0751651 | Mitochondrial Diseases | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0751651 | Mitochondrial Diseases | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0751651 | Mitochondrial Diseases | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
