ZIC2, Zic family member 2, 7546

N. diseases: 125; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE No mutations in ZIC2 or in other genes that cause HPE were identified, suggesting that mutation of ZIC2 is a rare cause of, or contributor to, RES associated with HPE. 21638761 2011
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2. 21416594 2011
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE Here we collect and summarize all available mutations in the human ZIC2 gene detected in HPE patients (21 published and 62 novel). 19177455 2009
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.500 GeneticVariation disease BEFREE Mutations in ZIC2, located within region 13q32, cause holoprosencephaly, whereas the 13q32.2q32.3 region is associated with cerebellar vermis hypoplasia (Dandy-Walker syndrome). 25454392 2015
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 GeneticVariation group BEFREE We reviewed the literature for ZIC2-ZIC5 deletions and their involvement in neural tube defects (NTDs). 21496007 2012
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 GeneticVariation group BEFREE The study focused on the associated brain malformations, including neuronal migration defects, which predominated in individuals with ZIC2 mutations, and neural tube defects, which were frequently associated with ZIC2 (rachischisis) and TGIF mutations. 21940735 2011
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 GeneticVariation group 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
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 GeneticVariation group BEFREE If this association is confirmed, subtle alterations in ZIC2 activity may confer a risk of NTD. 11857562 2002
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 GeneticVariation disease BEFREE These findings expanded the spectrum of the ZIC2 gene mutations and associated clinical manifestations, which is the first identification of a mutated ZIC2 gene in a Han infant girl with mild microcephaly, semilobor HPE, and arachnoid cyst. 30855487 2019
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.110 GeneticVariation disease BEFREE Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism. 24706429 2014
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.100 GeneticVariation disease GWASDB Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. 22863734 2012
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 GeneticVariation group BEFREE In previous studies, we showed that the homozygous Zic1 null mutation (Zic1-/-) results in cerebellar malformation with severe ataxia and that holoprosencephaly and spina bifida occur in homozygotes for Zic2 knockdown mutation (Zic2kd/kd). 11699604 2001
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 GeneticVariation group BEFREE Mutation in human ZIC2, a zinc finger protein homologous to Drosophila odd-paired, causes holoprosencephaly (HPE), which is a common, severe malformation of the brain in humans. 10677508 2000
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 GeneticVariation group BEFREE Using samples from a population-based birth defects registry in California, we performed a mutational analysis of the known HPE genes Sonic Hedgehog (SHH), ZIC2, and SIX3, in addition to two HPE candidate genes, TG-interacting factor (TGIF), and Patched (PTC), on a group of sporadic HPE patients. 10710230 2000
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 GeneticVariation group BEFREE All the foetuses had severe cerebral midline malformations associated with a deletion including the ZIC2 gene. 19022413 2009
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.050 GeneticVariation group BEFREE Zic5 is located near Zic2, which is responsible for human brain malformation syndrome (holoprosencephaly, or HPE). 15136147 2004
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.050 GeneticVariation group BEFREE Patients with mutation in the ZIC2 gene usually present a normal or mildly dysmorphic face associated with a severe brain malformation. 24677696 2014
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.050 GeneticVariation group BEFREE Heterozygous loss-of-function mutations in ZIC2 result in the severe brain malformation known as holoprosencephaly (HPE), indicating that forebrain development is exquisitely sensitive to the activity of this poorly understood transcription factor. 15590697 2005
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		0.040 GeneticVariation disease BEFREE Mutations in ZIC2, located within region 13q32, cause holoprosencephaly, whereas the 13q32.2q32.3 region is associated with cerebellar vermis hypoplasia (Dandy-Walker syndrome). 25454392 2015
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.040 GeneticVariation disease BEFREE In previous studies, we showed that the homozygous Zic1 null mutation (Zic1-/-) results in cerebellar malformation with severe ataxia and that holoprosencephaly and spina bifida occur in homozygotes for Zic2 knockdown mutation (Zic2kd/kd). 11699604 2001
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.040 GeneticVariation disease BEFREE The study focused on the associated brain malformations, including neuronal migration defects, which predominated in individuals with ZIC2 mutations, and neural tube defects, which were frequently associated with ZIC2 (rachischisis) and TGIF mutations. 21940735 2011
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.040 GeneticVariation disease BEFREE Spina bifida-predisposing heterozygous mutations in Planar Cell Polarity genes and Zic2 reduce bone mass in young mice. 29463853 2018
CUI: C3711749
Disease: Nonsyndromic Holoprosencephaly
Nonsyndromic Holoprosencephaly 		0.030 GeneticVariation disease BEFREE Mutations in ZIC2, located on chromosome 13q32, are a common cause of non-syndromic, non-chromosomal HPE. 19955556 2010
CUI: C3711749
Disease: Nonsyndromic Holoprosencephaly
Nonsyndromic Holoprosencephaly 		0.030 GeneticVariation disease BEFREE We report on the prevalence of mutations in the zinc finger transcription factor gene, ZIC2, in a group of 509 unrelated individuals with isolated holoprosencephaly (HPE) and normal chromosomes. 11285244 2001
CUI: C3711749
Disease: Nonsyndromic Holoprosencephaly
Nonsyndromic Holoprosencephaly 		0.030 GeneticVariation disease BEFREE ZIC2 mutations are the second-most common cause of non-syndromic non-chromosomal HPE (after sonic hedgehog) and occur de novo in 74% of the affected probands. 24706429 2014