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 UNIPROT Genetic and functional analyses of ZIC3 variants in congenital heart disease. 24123890 2014
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 Biomarker disease MGD Zic3 is required in the migrating primitive streak for node morphogenesis and left-right patterning. 23303524 2013
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 Biomarker disease MGD Zic3 is required in the extra-cardiac perinodal region of the lateral plate mesoderm for left-right patterning and heart development. 23184148 2013
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 Biomarker disease GENOMICS_ENGLAND From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders. 21465648 2011
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 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 Biomarker disease BEFREE The phenotype of these mice correctly models the defects found in human HTX1 and indicates an important role for Zic3 in both left-right and axial patterning. 11959836 2002
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 Biomarker disease MGD The phenotype of these mice correctly models the defects found in human HTX1 and indicates an important role for Zic3 in both left-right and axial patterning. 11959836 2002
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 Biomarker disease MGD A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects. 10861288 2000
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 Biomarker disease MGD The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus. 10942421 2000
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 Biomarker disease GENOMICS_ENGLAND 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 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 Biomarker disease MGD The interfrontal bone and mutant genes in the mouse. 1018005 1976
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 Biomarker disease MGD """Bent-Tail,"" A Dominant, Sex-Linked Mutation in the Mouse." 16589192 1952
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 Biomarker disease GENOMICS_ENGLAND
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 CausalMutation disease CLINVAR
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 Biomarker disease CTD_human
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.910 Biomarker disease GENOMICS_ENGLAND
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 Biomarker disease BEFREE Here we summarise our current understanding of ZIC3 function and describe the potential role ZIC3 plays in important signalling pathways and their links to heterotaxy. 29442328 2018
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 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