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 |
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DisGeNET | July 29, 2024 |
Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
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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 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | MSLN | 10232 | mesothelin | Q13421 |
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 |
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Last updated: August 19, 2024