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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 |
|---|---|---|---|---|---|
| C0004779 | Basal Cell Nevus Syndrome | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0004779 | Basal Cell Nevus Syndrome | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0004782 | Basal Ganglia Diseases | ST8SIA3 | 51046 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 | O43173 |
| C0007117 | Basal cell carcinoma | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C0007117 | Basal cell carcinoma | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0007117 | Basal cell carcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1854245 | Basal cell carcinoma, multiple | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C1266005 | Basaloid squamous cell carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0917713 | Becker Muscular Dystrophy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0917713 | Becker Muscular Dystrophy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0917713 | Becker Muscular Dystrophy | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0917713 | Becker Muscular Dystrophy | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0917713 | Becker Muscular Dystrophy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0917713 | Becker Muscular Dystrophy | ALOX12 | 239 | arachidonate 12-lipoxygenase, 12S type | P18054 |
| C0917713 | Becker Muscular Dystrophy | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0917713 | Becker Muscular Dystrophy | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0917713 | Becker Muscular Dystrophy | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0917713 | Becker Muscular Dystrophy | GK | 2710 | glycerol kinase | P32189 |
| C0917713 | Becker Muscular Dystrophy | RGN | 9104 | regucalcin | Q15493 |
| C0917713 | Becker Muscular Dystrophy | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0004903 | Beckwith-Wiedemann Syndrome | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0004903 | Beckwith-Wiedemann Syndrome | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0004903 | Beckwith-Wiedemann Syndrome | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0004903 | Beckwith-Wiedemann Syndrome | LGALS1 | 3956 | galectin 1 | P09382 |
| C0004903 | Beckwith-Wiedemann Syndrome | CD48 | 962 | CD48 molecule | P09326 |
