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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 |
|---|---|---|---|---|---|
| C0017205 | Gaucher Disease | CD1D | 912 | CD1d molecule | P15813 |
| C0017205 | Gaucher Disease | CD14 | 929 | CD14 molecule | P08571 |
| C0017205 | Gaucher Disease | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0017205 | Gaucher Disease | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C0017205 | Gaucher Disease | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0017411 | Female Genital Diseases | LGALS9 | 3965 | galectin 9 | O00182 |
| C0017411 | Female Genital Diseases | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0017411 | Female Genital Diseases | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0017411 | Female Genital Diseases | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0017411 | Female Genital Diseases | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | GYG1 | 2992 | glycogenin 1 | P46976 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | PRNP | 5621 | prion protein | P04156 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | SI | 6476 | sucrase-isomaltase | P14410 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | MDH1 | 4190 | malate dehydrogenase 1 | P40925 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | PRNP | 5621 | prion protein | F7VJQ1 |
