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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 | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | CHKA | 1119 | choline kinase alpha | P35790 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | REG3G | 130120 | regenerating family member 3 gamma | Q6UW15 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | FASN | 2194 | fatty acid synthase | P49327 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | FCN2 | 2220 | ficolin 2 | Q15485 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | GP2 | 2813 | glycoprotein 2 | P55259 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PAFAH1B2 | 5049 | platelet activating factor acetylhydrolase 1b catalytic subunit 2 | P68402 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PRNP | 5621 | prion protein | F7VJQ1 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | SQLE | 6713 | squalene epoxidase | Q14534 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | ACYP2 | 98 | acylphosphatase 2 | P14621 |
| C2720289 | ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C1834304 | AMYOTROPHY, HEREDITARY NEURALGIC | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C1842675 | AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) | SARM1 | 23098 | sterile alpha and TIR motif containing 1 | Q6SZW1 |
