Marfan Syndrome Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_14323)
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Genes

8 genes associated with the Marfan Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ACTA2 actin, alpha 2, smooth muscle, aorta
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
FBN1 fibrillin 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGFBR3 transforming growth factor, beta receptor III