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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 |
|---|---|---|---|---|---|
| C0220668 | Congenital contractural arachnodactyly | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0220668 | Congenital contractural arachnodactyly | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0220668 | Congenital contractural arachnodactyly | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| 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 |
| C0266551 | Congenital coloboma of iris | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0266551 | Congenital coloboma of iris | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0266551 | Congenital coloboma of iris | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0266551 | Congenital coloboma of iris | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0266551 | Congenital coloboma of iris | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0266551 | Congenital coloboma of iris | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0266551 | Congenital coloboma of iris | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0266551 | Congenital coloboma of iris | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0266551 | Congenital coloboma of iris | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0266551 | Congenital coloboma of iris | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0266551 | Congenital coloboma of iris | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0266551 | Congenital coloboma of iris | GAS1 | 2619 | growth arrest specific 1 | P54826 |
