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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 |
|---|---|---|---|---|---|
| C0700095 | Central neuroblastoma | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0700095 | Central neuroblastoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0700095 | Central neuroblastoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0700095 | Central neuroblastoma | SHMT2 | 6472 | serine hydroxymethyltransferase 2 | P34897 |
| C0700095 | Central neuroblastoma | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0700095 | Central neuroblastoma | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0700095 | Central neuroblastoma | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0700345 | Candidiasis, Vulvovaginal | GLA | 2717 | galactosidase alpha | P06280 |
| C0700345 | Candidiasis, Vulvovaginal | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0700345 | Candidiasis, Vulvovaginal | PSAP | 5660 | prosaposin | P07602 |
| C0700345 | Candidiasis, Vulvovaginal | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0700345 | Candidiasis, Vulvovaginal | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0700345 | Candidiasis, Vulvovaginal | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0700594 | Radiculopathy | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0700613 | Anxiety state | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0700613 | Anxiety state | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C0700613 | Anxiety state | ARSI | 340075 | arylsulfatase family member I | Q5FYB1 |
| C0700613 | Anxiety state | LGALS3 | 3958 | galectin 3 | P17931 |
| C0700613 | Anxiety state | AMY1B | 277 | amylase alpha 1B | P04745 |
| C0700613 | Anxiety state | AMY1A | 276 | amylase alpha 1A | P04745 |
| C0700613 | Anxiety state | AMY1C | 278 | amylase alpha 1C | P04745 |
| C0700635 | Strudwick syndrome | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0700639 | Pyloric Stenosis, Hypertrophic | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0701163 | Adrenogenital disorder | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0701818 | Choledocholithiasis | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
