Human Gene Set: BRUNEAU_HEART_GREAT_VESSELS_AND_VALVULOGENESIS


Standard name BRUNEAU_HEART_GREAT_VESSELS_AND_VALVULOGENESIS
Systematic name M9884
Brief description Genes for which mutations result in developmental defects in the great vessels formation and valvulogenesis, a major class of congenital heart disease.
Full description or abstract Congenital heart disease is the leading cause of infant morbidity in the Western world, but only in the past ten years has its aetiology been understood. Recent studies have uncovered the genetic basis for some common forms of the disease and provide new insight into how the heart develops and how dysregulation of heart development leads to disease.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 18288184   Authors: Bruneau BG
Exact source Fig. 3: Great vessel formation and valvulogenesis
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Source species Homo sapiens
Contributed by Jessica Robertson (MSigDB Team)
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