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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 |
|---|---|---|---|---|---|
| C0019572 | Hirsutism | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0019572 | Hirsutism | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0019572 | Hirsutism | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0019572 | Hirsutism | GNS | 2799 | glucosamine (N-acetyl)-6-sulfatase | P15586 |
| C0019572 | Hirsutism | GUSB | 2990 | glucuronidase beta | P08236 |
| C0019572 | Hirsutism | ARSB | 411 | arylsulfatase B | P15848 |
| C0019572 | Hirsutism | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0019572 | Hirsutism | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0019572 | Hirsutism | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0019572 | Hirsutism | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C0019572 | Hirsutism | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0019572 | Hirsutism | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C0019572 | Hirsutism | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0019572 | Hirsutism | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0019572 | Hirsutism | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0019569 | Hirschsprung Disease | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0019569 | Hirschsprung Disease | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0019569 | Hirschsprung Disease | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0019569 | Hirschsprung Disease | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0019569 | Hirschsprung Disease | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0019569 | Hirschsprung Disease | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0019569 | Hirschsprung Disease | CSGALNACT2 | 55454 | chondroitin sulfate N-acetylgalactosaminyltransferase 2 | Q8N6G5 |
| C0019569 | Hirschsprung Disease | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0019569 | Hirschsprung Disease | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0019569 | Hirschsprung Disease | ENO2 | 2026 | enolase 2 | P09104 |
