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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 | CEL | 1056 | carboxyl ester lipase | P19835 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | VCAN | 1462 | versican | P13611 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | FDPS | 2224 | farnesyl diphosphate synthase | P14324 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| 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 |
