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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 |
|---|---|---|---|---|---|
| C0265219 | Miller Dieker syndrome | CD33 | 945 | CD33 molecule | P20138 |
| C0265219 | Miller Dieker syndrome | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0265219 | Miller Dieker syndrome | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0265219 | Miller Dieker syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0393799 | Miller Fisher Syndrome | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C1704423 | Milroy Disease | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C1704423 | Milroy Disease | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1704423 | Milroy Disease | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1704423 | Milroy Disease | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0342488 | Mineralocorticoid Excess Syndrome, Apparent | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0342488 | Mineralocorticoid Excess Syndrome, Apparent | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C1855008 | Mitochondrial Complex II Deficiency | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C1855008 | Mitochondrial Complex II Deficiency | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C1855008 | Mitochondrial Complex II Deficiency | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C1855008 | Mitochondrial Complex II Deficiency | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C4551995 | Mitochondrial DNA Depletion Syndrome 1 | TYMP | 1890 | thymidine phosphorylase | P19971 |
| 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 |
