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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 |
|---|---|---|---|---|---|
| C0266544 | Microcornea | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0266544 | Microcornea | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0266544 | Microcornea | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0266544 | Microcornea | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0266544 | Microcornea | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0266544 | Microcornea | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0266544 | Microcornea | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0266544 | Microcornea | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0266544 | Microcornea | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C1384408 | Microcystic meningioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0025988 | Microglossia | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0025988 | Microglossia | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C0025988 | Microglossia | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C2936816 | Micromelic dysplasia, congenital, with dislocation of radius | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C0026010 | Microphthalmos | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0026010 | Microphthalmos | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0026010 | Microphthalmos | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0026010 | Microphthalmos | FKTN | 2218 | fukutin | O75072 |
| C0026010 | Microphthalmos | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0026010 | Microphthalmos | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0026010 | Microphthalmos | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0026010 | Microphthalmos | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0026010 | Microphthalmos | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0026010 | Microphthalmos | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0026010 | Microphthalmos | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
