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 | 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 |
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 |
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Last updated: August 19, 2024