ZIC3, Zic family member 3, 7547

N. diseases: 93; N. variants: 19
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 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104894962
rs104894962
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		G 0.800 CausalMutation CLINVAR
dbSNP: rs122462165
rs122462165
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.800 GeneticVariation UNIPROT
dbSNP: rs122462165
rs122462165
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		T 0.800 CausalMutation CLINVAR
dbSNP: rs122463168
rs122463168
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		G 0.800 CausalMutation CLINVAR
dbSNP: rs122463168
rs122463168
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.800 GeneticVariation UNIPROT
dbSNP: rs104894960
rs104894960
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1203069392
rs1203069392
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		A 0.700 CausalMutation CLINVAR
dbSNP: rs122462166
rs122462166
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		A 0.700 CausalMutation CLINVAR
dbSNP: rs122463167
rs122463167
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1556029841
rs1556029841
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1569345504
rs1569345504
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1569345723
rs1569345723
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		CG 0.700 CausalMutation CLINVAR
dbSNP: rs1569345742
rs1569345742
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387906498
rs387906498
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C3151867
Disease:
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398122850
rs398122850
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1848599
Disease:
VACTERL Association With Hydrocephalus 		TGCCGCC 0.700 CausalMutation CLINVAR
dbSNP: rs886041111
rs886041111
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		C 0.700 GeneticVariation CLINVAR
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: rs104894962
rs104894962
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: rs104894963
rs104894963
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.700 GeneticVariation UNIPROT Characterization of the interactions of human ZIC3 mutants with GLI3. 17764085 2008
dbSNP: rs373628598
rs373628598
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.700 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 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: rs104894962
rs104894962
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: rs104894963
rs104894963
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
CUI: C1844020
Disease:
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.700 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 Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain. 18716025 2008