ZIC3, Zic family member 3, 7547

N. diseases: 93; N. variants: 19
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED ×
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