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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 | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0266544 | Microcornea | FKTN | 2218 | fukutin | O75072 |
| C0266544 | Microcornea | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0266544 | Microcornea | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0266544 | Microcornea | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0266544 | Microcornea | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| 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 |
| C0266551 | Congenital coloboma of iris | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C0266551 | Congenital coloboma of iris | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0266551 | Congenital coloboma of iris | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0266551 | Congenital coloboma of iris | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0266551 | Congenital coloboma of iris | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0266551 | Congenital coloboma of iris | FKTN | 2218 | fukutin | O75072 |
| C0266551 | Congenital coloboma of iris | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0266551 | Congenital coloboma of iris | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0266551 | Congenital coloboma of iris | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0266551 | Congenital coloboma of iris | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
