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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 |
|---|---|---|---|---|---|
| C0751336 | Distal Muscular Dystrophies | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0751336 | Distal Muscular Dystrophies | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C3711384 | Distal Hereditary Motor Neuropathy, Type II | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C3711384 | Distal Hereditary Motor Neuropathy, Type II | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0012746 | Dissociative disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0012739 | Disseminated Intravascular Coagulation | PC | 5091 | pyruvate carboxylase | P11498 |
| C0012739 | Disseminated Intravascular Coagulation | SDC1 | 6382 | syndecan 1 | P18827 |
| C0012739 | Disseminated Intravascular Coagulation | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0012739 | Disseminated Intravascular Coagulation | ANXA5 | 308 | annexin A5 | P08758 |
| C0012739 | Disseminated Intravascular Coagulation | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0012739 | Disseminated Intravascular Coagulation | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0012739 | Disseminated Intravascular Coagulation | SELL | 6402 | selectin L | P14151 |
| C0012739 | Disseminated Intravascular Coagulation | CD14 | 929 | CD14 molecule | P08571 |
| C0012739 | Disseminated Intravascular Coagulation | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0012739 | Disseminated Intravascular Coagulation | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0012739 | Disseminated Intravascular Coagulation | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0021122 | Disruptive, Impulse Control, and Conduct Disorders | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0021122 | Disruptive, Impulse Control, and Conduct Disorders | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0021122 | Disruptive, Impulse Control, and Conduct Disorders | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0021122 | Disruptive, Impulse Control, and Conduct Disorders | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0021122 | Disruptive, Impulse Control, and Conduct Disorders | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C0012734 | Disruptive Behavior Disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0036875 | Disorders of Sex Development | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0036875 | Disorders of Sex Development | AKR1C1 | 1645 | aldo-keto reductase family 1 member C1 | Q04828 |
| C0036875 | Disorders of Sex Development | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
