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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 |
|---|---|---|---|---|---|
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0393720 | Reflex Epilepsy, Photosensitive | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0393799 | Miller Fisher Syndrome | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0393808 | Charcot-Marie-Tooth disease, X-linked, 1 | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0393814 | Hereditary liability to pressure palsies | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| 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 |
| C0393851 | Polyneuropathy, Critical Illness | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0393851 | Polyneuropathy, Critical Illness | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0393911 | Pure Autonomic Failure | PRNP | 5621 | prion protein | P04156 |
| C0393911 | Pure Autonomic Failure | PRNP | 5621 | prion protein | F7VJQ1 |
| C0393929 | Familial infantile myasthenia | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| 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 |
| C0394006 | Dysequilibrium syndrome | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0394006 | Dysequilibrium syndrome | ADH1C | 126 | alcohol dehydrogenase 1C (class I), gamma polypeptide | P00326 |
| C0394006 | Dysequilibrium syndrome | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0394006 | Dysequilibrium syndrome | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0394006 | Dysequilibrium syndrome | SFTPC | 6440 | surfactant protein C | P11686 |
