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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 | 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 |
| C0266568 | Persistent Hyperplastic Primary Vitreous | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0266667 | Cyclocephaly | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0266667 | Cyclocephaly | LSS | 4047 | lanosterol synthase | P48449 |
| C0266929 | Chronic Periodontitis | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0266929 | Chronic Periodontitis | CD38 | 952 | CD38 molecule | P28907 |
| C0266929 | Chronic Periodontitis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0266929 | Chronic Periodontitis | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0266929 | Chronic Periodontitis | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0266929 | Chronic Periodontitis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0266929 | Chronic Periodontitis | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| C0266929 | Chronic Periodontitis | STS | 412 | steroid sulfatase | P08842 |
| C0266929 | Chronic Periodontitis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
