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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 |
|---|---|---|---|---|---|
| C0473583 | Nevus elasticus | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0473583 | Nevus elasticus | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0473583 | Nevus elasticus | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0206736 | Nevus, Blue | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C4011754 | Nevus, Keratinocytic, Nonepidermolytic | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0376329 | New Variant Creutzfeldt-Jakob Disease | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0376329 | New Variant Creutzfeldt-Jakob Disease | PRNP | 5621 | prion protein | P04156 |
| C0376329 | New Variant Creutzfeldt-Jakob Disease | PRNP | 5621 | prion protein | F7VJQ1 |
| C1565887 | Newborn physiological jaundice | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0028043 | Nicotine Dependence | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0028043 | Nicotine Dependence | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0028043 | Nicotine Dependence | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0028043 | Nicotine Dependence | AKR1B10 | 57016 | aldo-keto reductase family 1 member B10 | O60218 |
| C0028043 | Nicotine Dependence | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0028043 | Nicotine Dependence | ADH1C | 126 | alcohol dehydrogenase 1C (class I), gamma polypeptide | P00326 |
| C0028043 | Nicotine Dependence | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0028043 | Nicotine Dependence | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0028043 | Nicotine Dependence | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0028043 | Nicotine Dependence | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0028043 | Nicotine Dependence | CACNA2D3 | 55799 | calcium voltage-gated channel auxiliary subunit alpha2delta 3 | Q8IZS8 |
| C0028043 | Nicotine Dependence | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0028043 | Nicotine Dependence | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0028043 | Nicotine Dependence | ADH7 | 131 | alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide | P40394 |
| C0028043 | Nicotine Dependence | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0028043 | Nicotine Dependence | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
