ZIC2, Zic family member 2, 7546

N. diseases: 125; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13542
rs13542
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C0008924
Disease:
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
dbSNP: rs756225250
rs756225250
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
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
dbSNP: rs794729641
rs794729641
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
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
dbSNP: rs794729641
rs794729641
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
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
dbSNP: rs756225250
rs756225250
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
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
dbSNP: rs756225250
rs756225250
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
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
dbSNP: rs756225250
rs756225250
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
HOLOPROSENCEPHALY 5
AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG 0.700 CausalMutation CLINVAR Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. 9771712 1998
dbSNP: rs1060499562
rs1060499562
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
HOLOPROSENCEPHALY 5
A 0.700 CausalMutation CLINVAR
dbSNP: rs1060499562
rs1060499562
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C0751617
Disease:
Semilobar Holoprosencephaly
A 0.700 CausalMutation CLINVAR
dbSNP: rs1060499563
rs1060499563
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C0751617
Disease:
Semilobar Holoprosencephaly
T 0.700 CausalMutation CLINVAR
dbSNP: rs1060499563
rs1060499563
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
HOLOPROSENCEPHALY 5
T 0.700 CausalMutation CLINVAR
dbSNP: rs1060499564
rs1060499564
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
HOLOPROSENCEPHALY 5
T 0.700 CausalMutation CLINVAR
dbSNP: rs1185333947
rs1185333947
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
HOLOPROSENCEPHALY 5
0.700 GeneticVariation UNIPROT
dbSNP: rs1456001894
rs1456001894
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
HOLOPROSENCEPHALY 5
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555332212
rs1555332212
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
HOLOPROSENCEPHALY 5
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555332361
rs1555332361
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
HOLOPROSENCEPHALY 5
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555332362
rs1555332362
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
HOLOPROSENCEPHALY 5
A 0.700 CausalMutation CLINVAR
dbSNP: rs1566405714
rs1566405714
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
HOLOPROSENCEPHALY 5
G 0.700 GeneticVariation CLINVAR
dbSNP: rs397515364
rs397515364
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
HOLOPROSENCEPHALY 5
GC 0.700 CausalMutation CLINVAR
dbSNP: rs397515364
rs397515364
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C0079541
Disease:
Holoprosencephaly
GC 0.700 CausalMutation CLINVAR
dbSNP: rs397515365
rs397515365
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C0079541
Disease:
Holoprosencephaly
T 0.700 CausalMutation CLINVAR
dbSNP: rs397515365
rs397515365
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
HOLOPROSENCEPHALY 5
T 0.700 CausalMutation CLINVAR
dbSNP: rs397515499
rs397515499
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs397515500
rs397515500
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1840528
Disease:
HOLOPROSENCEPHALY 4 (disorder)
C 0.700 CausalMutation CLINVAR
dbSNP: rs749567106
rs749567106
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
HOLOPROSENCEPHALY 5
0.700 CausalMutation CLINVAR