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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 |
|---|---|---|---|---|---|
| C0004606 | Nonproliferative diabetic retinopathy | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0004606 | Nonproliferative diabetic retinopathy | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C1290344 | Nonspecific interstitial pneumonia | SFTPC | 6440 | surfactant protein C | P11686 |
| C0028326 | Noonan Syndrome | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0028326 | Noonan Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| 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 |
| 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 |
| C1864923 | Northern epilepsy syndrome | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0028432 | Nose Diseases | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0028432 | Nose Diseases | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0948242 | Nuchal bleb, familial | LPL | 4023 | lipoprotein lipase | P06858 |
| C3714509 | Nutrition Disorders | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0028077 | Nyctalopia | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0028077 | Nyctalopia | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0028077 | Nyctalopia | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0028077 | Nyctalopia | HK1 | 3098 | hexokinase 1 | P19367 |
| C0028077 | Nyctalopia | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C0028077 | Nyctalopia | NYX | 60506 | nyctalopin | Q9GZU5 |
