ZIC3, Zic family member 3, 7547

N. diseases: 93; N. variants: 19
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894961
rs104894961
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.800 GeneticVariation UNIPROT Genetic and functional analyses of ZIC3 variants in congenital heart disease. 24123890 2014
dbSNP: rs104894961
rs104894961
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.800 GeneticVariation UNIPROT Characterization of the interactions of human ZIC3 mutants with GLI3. 17764085 2008
dbSNP: rs104894961
rs104894961
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.800 GeneticVariation UNIPROT Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain. 18716025 2008
dbSNP: rs104894961
rs104894961
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.800 GeneticVariation 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
dbSNP: rs104894961
rs104894961
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.800 GeneticVariation UNIPROT Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. 14681828 2004
dbSNP: rs104894961
rs104894961
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.800 GeneticVariation UNIPROT X-linked situs abnormalities result from mutations in ZIC3. 9354794 1997
dbSNP: rs104894961
rs104894961
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		C 0.800 CausalMutation CLINVAR