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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0041351 | Tularemia | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C1328544 | Tubular breast carcinoma | CDH13 | 1012 | cadherin 13 | P55290 |
| C1333791 | Tubular adenocarcinoma gastric | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C1333791 | Tubular adenocarcinoma gastric | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| 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 |
| C0302164 | Tuberous xanthoma | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0041341 | Tuberous Sclerosis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0041341 | Tuberous Sclerosis | OGA | 10724 | O-GlcNAcase | O60502 |
| C0041341 | Tuberous Sclerosis | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0041341 | Tuberous Sclerosis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0041341 | Tuberous Sclerosis | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0041341 | Tuberous Sclerosis | CANX | 821 | calnexin | P27824 |
