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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 |
|---|---|---|---|---|---|
| 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 |
| C0266551 | Congenital coloboma of iris | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0220668 | Congenital contractural arachnodactyly | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0220668 | Congenital contractural arachnodactyly | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0220668 | Congenital contractural arachnodactyly | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0220668 | Congenital contractural arachnodactyly | ENO1 | 2023 | enolase 1 | P06733 |
| C0220668 | Congenital contractural arachnodactyly | FBP1 | 2203 | fructose-bisphosphatase 1 | P09467 |
| C0220668 | Congenital contractural arachnodactyly | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C0220668 | Congenital contractural arachnodactyly | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0220668 | Congenital contractural arachnodactyly | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0220668 | Congenital contractural arachnodactyly | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0220668 | Congenital contractural arachnodactyly | LDHA | 3939 | lactate dehydrogenase A | P00338 |
