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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 |
|---|---|---|---|---|---|
| C0030186 | Paget Disease Extramammary | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1368019 | Paget Disease | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C1368019 | Paget Disease | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C1368019 | Paget Disease | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0266483 | Pachygyria | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0266483 | Pachygyria | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0266483 | Pachygyria | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0266483 | Pachygyria | FKTN | 2218 | fukutin | O75072 |
| C0266483 | Pachygyria | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0266483 | Pachygyria | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0266483 | Pachygyria | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0266483 | Pachygyria | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0266483 | Pachygyria | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0266483 | Pachygyria | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0266483 | Pachygyria | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0266483 | Pachygyria | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0266483 | Pachygyria | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0266483 | Pachygyria | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0266483 | Pachygyria | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0266483 | Pachygyria | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0266483 | Pachygyria | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0266483 | Pachygyria | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0266483 | Pachygyria | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0266483 | Pachygyria | DLST | 1743 | dihydrolipoamide S-succinyltransferase | P36957 |
| C0266483 | Pachygyria | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
