ZIC3, Zic family member 3, 7547

N. diseases: 93; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037221
Disease: Situs Inversus
Situs Inversus
0.130 GeneticVariation disease BEFREE Mutations in ZIC3 are associated with situs ambiguus and cardiac defects predominantly in males. 16926859 2006
CUI: C0037221
Disease: Situs Inversus
Situs Inversus
0.130 GeneticVariation disease BEFREE Situs ambiguus in a female fetus with balanced (X;21) translocation--evidence for functional nullisomy of the ZIC3 gene? 15470371 2005
CUI: C0037221
Disease: Situs Inversus
Situs Inversus
0.130 GeneticVariation disease BEFREE Previously we mapped a locus for situs abnormalities in humans, HTX1, to Xq26.2 by linkage analysis in a single family (LR1) and by detection of a deletion in an unrelated situs ambiguus male (Family LR2; refs 2,3). 9354794 1997
CUI: C0037221
Disease: Situs Inversus
Situs Inversus
0.130 Biomarker disease HPO