ZIC3, Zic family member 3, 7547

N. diseases: 93; N. variants: 19
Disease: Situs inversus totalis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		0.020 GeneticVariation disease BEFREE The pedigree demonstrates the first reported case of situs inversus totalis associated with a ZIC3 mutation in a male and the second reported case of incomplete penetrance in an unaffected transmitting male, as well as a wide range of phenotypes of varying severity. 22171628 2013
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		0.020 GeneticVariation disease BEFREE To determine the relative contribution of ZIC3 mutations to both heterotaxy and isolated CHD, we screened the coding region of ZIC3 in 194 unrelated patients, including 61 patients with classic heterotaxy, 93 patients with heart defects characteristic of heterotaxy, and 11 patients with situs inversus totalis. 14681828 2004