HOLOPROSENCEPHALY 5
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
|
11285244 |
2001 |
HOLOPROSENCEPHALY 5
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism.
|
24706429 |
2014 |
HOLOPROSENCEPHALY 5
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
|
9771712 |
1998 |
HOLOPROSENCEPHALY 5
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
|
19955556 |
2010 |
HOLOPROSENCEPHALY 5
|
0.900 |
Biomarker
|
disease |
MGD |
Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling.
|
27466203 |
2016 |
HOLOPROSENCEPHALY 5
|
0.900 |
GeneticVariation
|
disease |
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 |
HOLOPROSENCEPHALY 5
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.
|
15590697 |
2005 |
HOLOPROSENCEPHALY 5
|
0.900 |
Biomarker
|
disease |
MGD |
Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation.
|
18617531 |
2008 |
HOLOPROSENCEPHALY 5
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
|
19955556 |
2010 |
HOLOPROSENCEPHALY 5
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
|
21976454 |
2011 |
HOLOPROSENCEPHALY 5
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
|
9771712 |
1998 |
HOLOPROSENCEPHALY 5
|
0.900 |
Biomarker
|
disease |
MGD |
Zic2 is required for neural crest formation and hindbrain patterning during mouse development.
|
14651926 |
2003 |
HOLOPROSENCEPHALY 5
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
HOLOPROSENCEPHALY 5
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
|
11285244 |
2001 |
HOLOPROSENCEPHALY 5
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
|
9771712 |
1998 |
HOLOPROSENCEPHALY 5
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.
|
15590697 |
2005 |
HOLOPROSENCEPHALY 5
|
0.900 |
Biomarker
|
disease |
MGD |
Zic2 regulates the kinetics of neurulation.
|
10677508 |
2000 |
HOLOPROSENCEPHALY 5
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
|
15221788 |
2004 |
HOLOPROSENCEPHALY 5
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
|
19955556 |
2010 |
HOLOPROSENCEPHALY 5
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
|
19177455 |
2009 |
Schizophrenia
|
0.520 |
GeneticVariation
|
disease |
BEFREE |
Zic2 hypomorphic mutant mice exhibit schizophrenia-related behavioral abnormalities such as cognitive dysfunction and impaired sensorimotor gating and social behaviors, and ZIC2 mutations found in schizophrenia patients included a severely functionally defective one.
|
29442325 |
2018 |
Schizophrenia
|
0.520 |
Biomarker
|
disease |
MGD |
These results warrant further study of ZIC2 in the pathogenesis of schizophrenia.
|
22355535 |
2011 |
Schizophrenia
|
0.520 |
Biomarker
|
disease |
PSYGENET |
These results warrant further study of ZIC2 in the pathogenesis of schizophrenia.
|
22355535 |
2011 |
Schizophrenia
|
0.520 |
Biomarker
|
disease |
BEFREE |
These results warrant further study of ZIC2 in the pathogenesis of schizophrenia.
|
22355535 |
2011 |
Holoprosencephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
ZIC2 is a causal gene for holoprosencephaly and encodes a zinc-finger-type transcriptional regulator.
|
22355535 |
2011 |