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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0751036 | Hereditary Motor and Sensory Neuropathy Type I | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0751007 | Intracranial Atherosclerosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0751007 | Intracranial Atherosclerosis | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0751003 | Brain Aneurysm | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0750979 | Primary malignant neoplasm of brain | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0750977 | Recurrent Brain Neoplasm | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0750977 | Recurrent Brain Neoplasm | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0750974 | Brain Tumor, Primary | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C0750974 | Brain Tumor, Primary | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0750974 | Brain Tumor, Primary | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0750974 | Brain Tumor, Primary | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0750974 | Brain Tumor, Primary | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0750974 | Brain Tumor, Primary | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
