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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 |
|---|---|---|---|---|---|
| C0410207 | Tubular Aggregate Myopathy | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0410207 | Tubular Aggregate Myopathy | OVGP1 | 5016 | oviductal glycoprotein 1 | Q12889 |
| C0410207 | Tubular Aggregate Myopathy | CLEC10A | 10462 | C-type lectin domain containing 10A | Q8IUN9 |
| C0410207 | Tubular Aggregate Myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0410207 | Tubular Aggregate Myopathy | SIRT4 | 23409 | sirtuin 4 | Q9Y6E7 |
| C0410207 | Tubular Aggregate Myopathy | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0410207 | Tubular Aggregate Myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1333791 | Tubular adenocarcinoma gastric | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C1333791 | Tubular adenocarcinoma gastric | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1328544 | Tubular breast carcinoma | CDH13 | 1012 | cadherin 13 | P55290 |
| C0041351 | Tularemia | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0263628 | Tumoral calcinosis | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0263628 | Tumoral calcinosis | KL | 9365 | klotho | Q9UEF7 |
| C0263628 | Tumoral calcinosis | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0001618 | Tumors of Adrenal Cortex | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0001618 | Tumors of Adrenal Cortex | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0001618 | Tumors of Adrenal Cortex | AKR1B10 | 57016 | aldo-keto reductase family 1 member B10 | O60218 |
| C0001618 | Tumors of Adrenal Cortex | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0001618 | Tumors of Adrenal Cortex | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0001618 | Tumors of Adrenal Cortex | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0001618 | Tumors of Adrenal Cortex | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0001618 | Tumors of Adrenal Cortex | TKT | 7086 | transketolase | P29401 |
| C0041408 | Turner Syndrome | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0041408 | Turner Syndrome | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0041408 | Turner Syndrome | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
