rs1185333947
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 5
0.700
GeneticVariation
UNIPROT
rs13542
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
Cleft upper lip
0.700
GeneticVariation
GWASDB
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
22863734
2012
rs749567106
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 5
0.700
CausalMutation
CLINVAR
rs749567106
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
Holoprosencephaly
0.700
CausalMutation
CLINVAR
rs1831992
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
Neural Tube Defects
0.010
GeneticVariation
BEFREE
Transmission disequilibrium testing of a frequent polymorphism in the ZIC2 gene (1059C > T , H353H) in parent-spina bifida aperta child triads showed no association with NTD .
14679585
2004
rs1831992
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
Spina Bifida Cystica
0.010
GeneticVariation
BEFREE
Transmission disequilibrium testing of a frequent polymorphism in the ZIC2 gene (1059C > T , H353H) in parent-spina bifida aperta child triads showed no association with NTD.
14679585
2004
rs1060499562
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 5
A
0.700
CausalMutation
CLINVAR
rs1060499562
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
Semilobar Holoprosencephaly
A
0.700
CausalMutation
CLINVAR
rs1555332362
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 5
A
0.700
CausalMutation
CLINVAR
rs397515499
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 2 (disorder)
A
0.700
CausalMutation
CLINVAR
rs756225250
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 5
AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG
0.700
CausalMutation
CLINVAR
In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.
15590697
2005
rs756225250
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 5
AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG
0.700
CausalMutation
CLINVAR
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
9771712
1998
rs756225250
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 5
AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG
0.700
CausalMutation
CLINVAR
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
19955556
2010
rs756225250
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 5
AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG
0.700
CausalMutation
CLINVAR
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
11285244
2001
rs1456001894
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 5
C
0.700
GeneticVariation
CLINVAR
rs397515500
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 4 (disorder)
C
0.700
CausalMutation
CLINVAR
rs1566405714
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 5
G
0.700
GeneticVariation
CLINVAR
rs794729641
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 5
G
0.700
GeneticVariation
CLINVAR
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
19177455
2009
rs794729641
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 5
G
0.700
GeneticVariation
CLINVAR
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
19955556
2010
rs397515364
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 5
GC
0.700
CausalMutation
CLINVAR
rs397515364
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
Holoprosencephaly
GC
0.700
CausalMutation
CLINVAR
rs1060499563
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
Semilobar Holoprosencephaly
T
0.700
CausalMutation
CLINVAR
rs1060499563
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 5
T
0.700
CausalMutation
CLINVAR
rs1060499564
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 5
T
0.700
CausalMutation
CLINVAR
rs1555332212
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
HOLOPROSENCEPHALY 5
T
0.700
CausalMutation
CLINVAR