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: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 GeneticVariation disease CLINVAR
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 GeneticVariation disease UNIPROT Characterization of the interactions of human ZIC3 mutants with GLI3. 17764085 2008
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 GeneticVariation disease UNIPROT X-linked situs abnormalities result from mutations in ZIC3. 9354794 1997
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 GeneticVariation disease UNIPROT Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain. 18716025 2008
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 GeneticVariation disease UNIPROT Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain. 17295247 2007
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 GeneticVariation disease UNIPROT Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. 14681828 2004
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 GeneticVariation disease UNIPROT Genetic and functional analyses of ZIC3 variants in congenital heart disease. 24123890 2014
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.600 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: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.600 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: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.600 GeneticVariation disease BEFREE A study population of 348 patients collected over more than 10 years with a large variety of congenital heart disease including heterotaxy was screened for variants in the ZIC3 gene. 27406248 2016
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.600 GeneticVariation disease BEFREE We report a four generation family with X-linked heterotaxy associated with a deletion of the ZIC3 gene at Xq26.3. 21465648 2011
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.600 GeneticVariation disease BEFREE A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease. 30120289 2018
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.600 GeneticVariation disease BEFREE Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? 20452998 2010
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.600 GeneticVariation disease BEFREE Identified cytogenetic abnormalities ranged from large unbalanced translocations to smaller, kilobase-scale CNVs, including a rare, single exon deletion in ZIC3, a gene known to cause X-linked heterotaxy. 27821535 2016
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.600 GeneticVariation disease BEFREE This screening of a cohort of patients with sporadic heterotaxy indicates that ZIC3 mutations account for approximately 1% of affected individuals. 14681828 2004
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.600 GeneticVariation disease BEFREE Longitudinal follow-up revealed that this family has X-linked heterotaxy due to a missense mutation, c.1048A>G(R350G), in the third zinc finger domain of ZIC3. 22171628 2013
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.600 GeneticVariation disease BEFREE Mutations in ZIC3 are associated with situs ambiguus and cardiac defects predominantly in males. 16926859 2006
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.600 GeneticVariation disease BEFREE The birth incidence of heterotaxy-spectrum malformations is significantly higher in males, but our previous work indicated that mutations within ZIC3 did not account for the male over-representation. 21858219 2011
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		0.520 GeneticVariation disease BEFREE Moreover, morpholino-knockdown experiments in zebrafish demonstrated that zic3 mutant mRNA failed to rescue the abnormal phenotype, suggesting a role for the novel ZIC3 mutation in heterotaxy syndrome. 30120289 2018
CUI: C2931228
Disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 		0.500 GeneticVariation disease UNIPROT Genetic and functional analyses of ZIC3 variants in congenital heart disease. 24123890 2014
CUI: C2931228
Disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 		0.500 GeneticVariation disease UNIPROT Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? 20452998 2010
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 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 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: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.130 GeneticVariation disease BEFREE In humans, loss-of-function mutations in ZIC3 cause isolated cardiovascular malformations and X-linked heterotaxy, a disorder with abnormal left-right asymmetry of organs. 23303524 2013