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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 |
|---|---|---|---|---|---|
| C0221013 | Mastocytosis, Systemic | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0221013 | Mastocytosis, Systemic | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0221013 | Mastocytosis, Systemic | CALR | 811 | calreticulin | P27797 |
| C0221013 | Mastocytosis, Systemic | CD38 | 952 | CD38 molecule | P28907 |
| C0221013 | Mastocytosis, Systemic | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0221013 | Mastocytosis, Systemic | FH | 2271 | fumarate hydratase | P07954 |
| C0221013 | Mastocytosis, Systemic | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
| C0221013 | Mastocytosis, Systemic | CD33 | 945 | CD33 molecule | P20138 |
| C0024904 | Mastoiditis | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0342276 | Maturity onset diabetes mellitus in young | FBP1 | 2203 | fructose-bisphosphatase 1 | P09467 |
| C0342276 | Maturity onset diabetes mellitus in young | HK1 | 3098 | hexokinase 1 | P19367 |
| C0342276 | Maturity onset diabetes mellitus in young | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0342276 | Maturity onset diabetes mellitus in young | PPP1R3B | 79660 | protein phosphatase 1 regulatory subunit 3B | Q86XI6 |
| C0342276 | Maturity onset diabetes mellitus in young | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0342276 | Maturity onset diabetes mellitus in young | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C0342276 | Maturity onset diabetes mellitus in young | FOLR2 | 2350 | folate receptor beta | P14207 |
| C0342276 | Maturity onset diabetes mellitus in young | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0342276 | Maturity onset diabetes mellitus in young | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0342276 | Maturity onset diabetes mellitus in young | CYB5R4 | 51167 | cytochrome b5 reductase 4 | Q7L1T6 |
| C0342276 | Maturity onset diabetes mellitus in young | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0342276 | Maturity onset diabetes mellitus in young | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0342276 | Maturity onset diabetes mellitus in young | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0342276 | Maturity onset diabetes mellitus in young | GCK | 2645 | glucokinase | P35557 |
| C0342276 | Maturity onset diabetes mellitus in young | GPD1 | 2819 | glycerol-3-phosphate dehydrogenase 1 | P21695 |
| C0342276 | Maturity onset diabetes mellitus in young | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
