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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 |
|---|---|---|---|---|---|
| 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 |
| C0266483 | Pachygyria | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0266483 | Pachygyria | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| 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 |
| C0030186 | Paget Disease Extramammary | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0030186 | Paget Disease Extramammary | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0030186 | Paget Disease Extramammary | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0030186 | Paget Disease Extramammary | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0030186 | Paget Disease Extramammary | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0030186 | Paget Disease Extramammary | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0030186 | Paget Disease Extramammary | VTCN1 | 79679 | V-set domain containing T cell activation inhibitor 1 | Q7Z7D3 |
| C0030186 | Paget Disease Extramammary | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
