Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.210 GeneticVariation group BEFREE Our study is the first to suggest a relationship between a probable CCN1 mutation and ASD. 25135600 2015
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.210 Biomarker group MGD Together, these results provide evidence that deficiency in matrix signaling can lead to autosomal dominant AVSD, identify Ccn1(+/-) mice as a genetic model for ostium primum ASD, and implicate CCN1 as a candidate gene for AVSD in humans. 17023674 2006