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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 |
|---|---|---|---|---|---|
| C0270853 | Juvenile Myoclonic Epilepsy | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0270855 | Early myoclonic encephalopathy | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0270855 | Early myoclonic encephalopathy | AMT | 275 | aminomethyltransferase | P48728 |
| C0270857 | Epilepsy, Reflex | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0270911 | Charcot-Marie-Tooth Disease, Type Ia (disorder) | CANX | 821 | calnexin | P27824 |
| C0270911 | Charcot-Marie-Tooth Disease, Type Ia (disorder) | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0270911 | Charcot-Marie-Tooth Disease, Type Ia (disorder) | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0270911 | Charcot-Marie-Tooth Disease, Type Ia (disorder) | PRNP | 5621 | prion protein | P04156 |
| C0270911 | Charcot-Marie-Tooth Disease, Type Ia (disorder) | PRNP | 5621 | prion protein | F7VJQ1 |
| C0270912 | Charcot-Marie-Tooth Disease, Type Ib | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0270912 | Charcot-Marie-Tooth Disease, Type Ib | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0270914 | Hereditary Motor and Sensory-Neuropathy Type II | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0270914 | Hereditary Motor and Sensory-Neuropathy Type II | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0270921 | Axonal neuropathy | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0270921 | Axonal neuropathy | PIGB | 9488 | phosphatidylinositol glycan anchor biosynthesis class B | Q92521 |
| C0270921 | Axonal neuropathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0270922 | Peripheral demyelinating neuropathy | ARSA | 410 | arylsulfatase A | P15289 |
| C0270922 | Peripheral demyelinating neuropathy | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0270922 | Peripheral demyelinating neuropathy | ACO2 | 50 | aconitase 2 | Q99798 |
| C0270922 | Peripheral demyelinating neuropathy | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0270922 | Peripheral demyelinating neuropathy | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0270922 | Peripheral demyelinating neuropathy | PRNP | 5621 | prion protein | P04156 |
| C0270922 | Peripheral demyelinating neuropathy | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0270922 | Peripheral demyelinating neuropathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0270922 | Peripheral demyelinating neuropathy | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
