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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 |
|---|---|---|---|---|---|
| C0394005 | Ataxic cerebral palsy | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0393929 | Familial infantile myasthenia | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0393911 | Pure Autonomic Failure | PRNP | 5621 | prion protein | P04156 |
| C0393911 | Pure Autonomic Failure | PRNP | 5621 | prion protein | F7VJQ1 |
| C0393851 | Polyneuropathy, Critical Illness | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0393851 | Polyneuropathy, Critical Illness | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0393819 | Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0393819 | Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0393819 | Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0393819 | Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0393819 | Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0393819 | Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0393814 | Hereditary liability to pressure palsies | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0393808 | Charcot-Marie-Tooth disease, X-linked, 1 | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0393799 | Miller Fisher Syndrome | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0393720 | Reflex Epilepsy, Photosensitive | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | GPC3 | 2719 | glypican 3 | P51654 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | HK2 | 3099 | hexokinase 2 | P52789 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
