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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 |
|---|---|---|---|---|---|
| C1857395 | De Toni-Debre-Fanconi Syndrome | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C1857395 | De Toni-Debre-Fanconi Syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1850555 | De La Chapelle Dysplasia | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0010964 | Dandy-Walker Syndrome | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0010964 | Dandy-Walker Syndrome | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0010964 | Dandy-Walker Syndrome | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0010964 | Dandy-Walker Syndrome | FKTN | 2218 | fukutin | O75072 |
| C0010964 | Dandy-Walker Syndrome | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0010964 | Dandy-Walker Syndrome | B4GALT1 | 2683 | beta-1,4-galactosyltransferase 1 | P15291 |
| C0010964 | Dandy-Walker Syndrome | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0010964 | Dandy-Walker Syndrome | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0010964 | Dandy-Walker Syndrome | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0010964 | Dandy-Walker Syndrome | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0010964 | Dandy-Walker Syndrome | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0010964 | Dandy-Walker Syndrome | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0010964 | Dandy-Walker Syndrome | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0010964 | Dandy-Walker Syndrome | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0010964 | Dandy-Walker Syndrome | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0010964 | Dandy-Walker Syndrome | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0010964 | Dandy-Walker Syndrome | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0010964 | Dandy-Walker Syndrome | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0010964 | Dandy-Walker Syndrome | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0010964 | Dandy-Walker Syndrome | GPC3 | 2719 | glypican 3 | P51654 |
| C0010964 | Dandy-Walker Syndrome | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0010964 | Dandy-Walker Syndrome | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
