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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 |
|---|---|---|---|---|---|
| C0027947 | Neutropenia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0027947 | Neutropenia | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C0027947 | Neutropenia | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0027947 | Neutropenia | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0027947 | Neutropenia | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0027947 | Neutropenia | CYP2C8 | 1558 | cytochrome P450 family 2 subfamily C member 8 | P10632 |
| C0027947 | Neutropenia | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0027947 | Neutropenia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0027947 | Neutropenia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0235032 | Neurotoxicity Syndromes | ST8SIA1 | 6489 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 | Q92185 |
| C0235032 | Neurotoxicity Syndromes | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0235032 | Neurotoxicity Syndromes | CAT | 847 | catalase | P04040 |
| C0235032 | Neurotoxicity Syndromes | PTGES3 | 10728 | prostaglandin E synthase 3 | Q15185 |
| C0027932 | Neurotic Disorders | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0027932 | Neurotic Disorders | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C0027932 | Neurotic Disorders | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0027932 | Neurotic Disorders | MDGA2 | 161357 | MAM domain containing glycosylphosphatidylinositol anchor 2 | Q7Z553 |
| C1854449 | Neuropathy, hereditary motor and sensory, Russe type | HK1 | 3098 | hexokinase 1 | P19367 |
| C0442874 | Neuropathy | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0442874 | Neuropathy | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0442874 | Neuropathy | ENO2 | 2026 | enolase 2 | P09104 |
| C0442874 | Neuropathy | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0442874 | Neuropathy | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0442874 | Neuropathy | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0442874 | Neuropathy | LYZ | 4069 | lysozyme | P61626 |
