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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 |
|---|---|---|---|---|---|
| C0220756 | Niemann-Pick Disease, Type C | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0220756 | Niemann-Pick Disease, Type C | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0220756 | Niemann-Pick Disease, Type C | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0220756 | Niemann-Pick Disease, Type C | LGALS9 | 3965 | galectin 9 | O00182 |
| C0220756 | Niemann-Pick Disease, Type C | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0220756 | Niemann-Pick Disease, Type C | CALR | 811 | calreticulin | P27797 |
| C0220756 | Niemann-Pick Disease, Type C | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0220756 | Niemann-Pick Disease, Type C | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0220756 | Niemann-Pick Disease, Type C | FASN | 2194 | fatty acid synthase | P49327 |
| C0220756 | Niemann-Pick Disease, Type C | FCN2 | 2220 | ficolin 2 | Q15485 |
| C0268243 | Niemann-Pick Disease, Type B | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0268243 | Niemann-Pick Disease, Type B | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0268243 | Niemann-Pick Disease, Type B | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0268242 | Niemann-Pick Disease, Type A | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0268242 | Niemann-Pick Disease, Type A | CHIT1 | 1118 | chitinase 1 | Q13231 |
| 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 |
