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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 |
|---|---|---|---|---|---|
| C3714636 | Pneumonitis | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C3714644 | Thymus Neoplasms | LGALS1 | 3956 | galectin 1 | P09382 |
| C3714644 | Thymus Neoplasms | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3714731 | Early childhood caries | PSAP | 5660 | prosaposin | P07602 |
| C3714731 | Early childhood caries | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C3714731 | Early childhood caries | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C3714731 | Early childhood caries | ALOX15 | 246 | arachidonate 15-lipoxygenase | P16050 |
| C3714753 | RETINOSCHISIS 1, X-LINKED, JUVENILE | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C3714753 | RETINOSCHISIS 1, X-LINKED, JUVENILE | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C3714756 | Intellectual Disability | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C3714756 | Intellectual Disability | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3714756 | Intellectual Disability | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C3714756 | Intellectual Disability | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C3714756 | Intellectual Disability | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C3714756 | Intellectual Disability | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C3714756 | Intellectual Disability | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C3714756 | Intellectual Disability | FKTN | 2218 | fukutin | O75072 |
| C3714756 | Intellectual Disability | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C3714756 | Intellectual Disability | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C3714756 | Intellectual Disability | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C3714756 | Intellectual Disability | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C3714756 | Intellectual Disability | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C3714756 | Intellectual Disability | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C3714756 | Intellectual Disability | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C3714756 | Intellectual Disability | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
