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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 |
|---|---|---|---|---|---|
| C0750977 | Recurrent Brain Neoplasm | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0750979 | Primary malignant neoplasm of brain | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0751003 | Brain Aneurysm | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0751007 | Intracranial Atherosclerosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0751007 | Intracranial Atherosclerosis | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0751036 | Hereditary Motor and Sensory Neuropathy Type I | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0751038 | Cockayne Syndrome, Type II | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0751038 | Cockayne Syndrome, Type II | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0751039 | Cockayne Syndrome, Type I | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0751039 | Cockayne Syndrome, Type I | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0751039 | Cockayne Syndrome, Type I | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0751039 | Cockayne Syndrome, Type I | CD38 | 952 | CD38 molecule | P28907 |
| C0751039 | Cockayne Syndrome, Type I | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0751039 | Cockayne Syndrome, Type I | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0751039 | Cockayne Syndrome, Type I | ANXA5 | 308 | annexin A5 | P08758 |
| C0751039 | Cockayne Syndrome, Type I | CAT | 847 | catalase | P04040 |
| C0751039 | Cockayne Syndrome, Type I | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0751039 | Cockayne Syndrome, Type I | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0751075 | Cancer of Digestive System | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0751075 | Cancer of Digestive System | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0751075 | Cancer of Digestive System | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0751075 | Cancer of Digestive System | HK2 | 3099 | hexokinase 2 | P52789 |
| C0751075 | Cancer of Digestive System | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0751075 | Cancer of Digestive System | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0751093 | Dystonia, Limb | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
