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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 |
|---|---|---|---|---|---|
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | ARSH | 347527 | arylsulfatase family member H | Q5FYA8 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | LGALS1 | 3956 | galectin 1 | P09382 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | LGALS3 | 3958 | galectin 3 | P17931 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | ME2 | 4200 | malic enzyme 2 | P23368 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | SLC35F6 | 54978 | solute carrier family 35 member F6 | Q8N357 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | LPCAT2 | 54947 | lysophosphatidylcholine acyltransferase 2 | Q7L5N7 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PRNP | 5621 | prion protein | P04156 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | CERK | 64781 | ceramide kinase | Q8TCT0 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | VTCN1 | 79679 | V-set domain containing T cell activation inhibitor 1 | Q7Z7D3 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | GPC5 | 2262 | glypican 5 | P78333 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | GPC1 | 2817 | glypican 1 | P35052 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | HK2 | 3099 | hexokinase 2 | P52789 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | MDH1 | 4190 | malate dehydrogenase 1 | P40925 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | SDC2 | 6383 | syndecan 2 | P34741 |
