ZIC2, Zic family member 2, 7546

N. diseases: 125; N. variants: 18
Disease: HOLOPROSENCEPHALY 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.900 Biomarker disease MGD Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling. 27466203 2016
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.900 Biomarker disease GENOMICS_ENGLAND Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism. 24706429 2014
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.900 Biomarker disease GENOMICS_ENGLAND A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. 21976454 2011
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
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
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
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
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
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
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
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
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
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
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.900 Biomarker disease MGD Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation. 18617531 2008
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
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
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
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
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
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
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.900 Biomarker disease MGD Zic2 is required for neural crest formation and hindbrain patterning during mouse development. 14651926 2003
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
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
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
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
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.900 Biomarker disease MGD Zic2 regulates the kinetics of neurulation. 10677508 2000
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.900 CausalMutation disease CLINVAR Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. 9771712 1998
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.900 Biomarker disease GENOMICS_ENGLAND Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. 9771712 1998
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.900 GeneticVariation disease UNIPROT Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. 9771712 1998
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.900 Biomarker disease CTD_human