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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 |
|---|---|---|---|---|---|
| C0018553 | Hamartoma Syndrome, Multiple | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0018553 | Hamartoma Syndrome, Multiple | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0018553 | Hamartoma Syndrome, Multiple | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0018523 | Hallervorden-Spatz Syndrome | AKR1B10 | 57016 | aldo-keto reductase family 1 member B10 | O60218 |
| C0018523 | Hallervorden-Spatz Syndrome | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0018523 | Hallervorden-Spatz Syndrome | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0018523 | Hallervorden-Spatz Syndrome | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0018522 | Hallermann's Syndrome | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0018425 | Gyrate Atrophy | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0018425 | Gyrate Atrophy | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0018418 | Gynecomastia | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0018418 | Gynecomastia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0018418 | Gynecomastia | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0018418 | Gynecomastia | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0018418 | Gynecomastia | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0018418 | Gynecomastia | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0018418 | Gynecomastia | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0018418 | Gynecomastia | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0018418 | Gynecomastia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0018418 | Gynecomastia | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0018418 | Gynecomastia | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0018418 | Gynecomastia | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0018418 | Gynecomastia | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0018418 | Gynecomastia | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0018418 | Gynecomastia | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
