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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 |
|---|---|---|---|---|---|
| C0948242 | Nuchal bleb, familial | LPL | 4023 | lipoprotein lipase | P06858 |
| C0028432 | Nose Diseases | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0028432 | Nose Diseases | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1864923 | Northern epilepsy syndrome | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0266526 | Norrie disease | CD38 | 952 | CD38 molecule | P28907 |
| C0266526 | Norrie disease | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0266526 | Norrie disease | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0266526 | Norrie disease | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0085577 | Normocytic anemia | ALDOA | 226 | aldolase, fructose-bisphosphate A | P04075 |
| C0085577 | Normocytic anemia | HK1 | 3098 | hexokinase 1 | P19367 |
| C0085577 | Normocytic anemia | BPGM | 669 | bisphosphoglycerate mutase | P07738 |
| C0085577 | Normocytic anemia | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0085577 | Normocytic anemia | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0028326 | Noonan Syndrome | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0028326 | Noonan Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1290344 | Nonspecific interstitial pneumonia | SFTPC | 6440 | surfactant protein C | P11686 |
| C0004606 | Nonproliferative diabetic retinopathy | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0004606 | Nonproliferative diabetic retinopathy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0004606 | Nonproliferative diabetic retinopathy | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0004606 | Nonproliferative diabetic retinopathy | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C3888391 | Nonnuclear polymorphic congenital cataract | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C3888391 | Nonnuclear polymorphic congenital cataract | LGALS1 | 3956 | galectin 1 | P09382 |
| C3888391 | Nonnuclear polymorphic congenital cataract | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C3888391 | Nonnuclear polymorphic congenital cataract | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C3888391 | Nonnuclear polymorphic congenital cataract | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
