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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 |
|---|---|---|---|---|---|
| C0151313 | Sensory neuropathy | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0151313 | Sensory neuropathy | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0151313 | Sensory neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0151313 | Sensory neuropathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0243026 | Sepsis | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0243026 | Sepsis | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0243026 | Sepsis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0243026 | Sepsis | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0243026 | Sepsis | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0243026 | Sepsis | ARSA | 410 | arylsulfatase A | P15289 |
| C0243026 | Sepsis | PSAP | 5660 | prosaposin | P07602 |
| C0243026 | Sepsis | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0243026 | Sepsis | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0243026 | Sepsis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0243026 | Sepsis | CS | 1431 | citrate synthase | O75390 |
| C0243026 | Sepsis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0243026 | Sepsis | ENO2 | 2026 | enolase 2 | P09104 |
| C0243026 | Sepsis | SARM1 | 23098 | sterile alpha and TIR motif containing 1 | Q6SZW1 |
| C0243026 | Sepsis | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C0243026 | Sepsis | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0243026 | Sepsis | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0243026 | Sepsis | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0243026 | Sepsis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0243026 | Sepsis | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C0243026 | Sepsis | PC | 5091 | pyruvate carboxylase | P11498 |
