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: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
0.120 GeneticVariation disease BEFREE The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle. 23427188 2013
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
0.120 GeneticVariation disease BEFREE X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3. 10980576 2000
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
0.120 Biomarker disease HPO