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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 |
|---|---|---|---|---|---|
| C0028043 | Nicotine Dependence | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C0028043 | Nicotine Dependence | ARSD | 414 | arylsulfatase D | P51689 |
| C0028043 | Nicotine Dependence | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0268242 | Niemann-Pick Disease, Type A | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0268242 | Niemann-Pick Disease, Type A | CHIT1 | 1118 | chitinase 1 | Q13231 |
| 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 |
| C0220756 | Niemann-Pick Disease, Type C | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0220756 | Niemann-Pick Disease, Type C | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0220756 | Niemann-Pick Disease, Type C | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0220756 | Niemann-Pick Disease, Type C | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| 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 |
| C3179455 | Niemann-Pick Disease, Type C1 | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C3179455 | Niemann-Pick Disease, Type C1 | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C3179455 | Niemann-Pick Disease, Type C1 | CD22 | 933 | CD22 molecule | P20273 |
