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: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.020 GeneticVariation phenotype BEFREE Behavioral abnormalities of Zic1 and Zic2 mutant mice: implications as models for human neurological disorders. 11699604 2001
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.020 AlteredExpression phenotype BEFREE Zic2(kd/+) mice showed increased locomotor activity in novel environments, cognitive and sensorimotor gating dysfunctions, and social behavioral abnormalities. 22355535 2011
CUI: C0702169
Disease: Acrania
Acrania
0.300 Biomarker disease CTD_human Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives. 15136147 2004
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.010 AlteredExpression disease BEFREE Here, using expression profiling and CRISPR-interference assays with clinical samples of human liver cancers, we identified a long noncoding RNA (lncRNA), lncZic2, that is located near the ZIC2 locus and was highly expressed in liver cancer and liver TICs. 29588366 2018
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.100 Biomarker disease HPO
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly
0.300 GermlineCausalMutation disease ORPHANET
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
0.100 Biomarker disease HPO
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 AlteredExpression disease BEFREE Immunohistochemical analyses further supported the correlation of ZIC2 expression and these genes in human pancreata harboring PDAC. 26318045 2015
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
0.100 Biomarker phenotype HPO
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts
0.010 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: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome
0.010 GeneticVariation disease BEFREE A strong bias towards right isomerism indicates a failure to establish left identity in the lateral plate mesoderm (LPM), a phenotype that cannot be explained simply by the defective ciliogenesis previously noted in Zic2 mutants. 29992973 2018
CUI: C0004096
Disease: Asthma
Asthma
0.100 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia
0.010 GeneticVariation phenotype 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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.010 Biomarker disease BEFREE Our results suggest that EZH2 is involved in regulating ZIC2 and SHANK1 which have been linked to neurological diseases such as autism spectrum disorder. 28720872 2017
CUI: C0221363
Disease: Bifid nose
Bifid nose
0.010 GeneticVariation disease BEFREE We report on a patient with holoprosencephaly caused by a rare ZIC2 mutation presenting a bifid nose associated with a nasal fistula and an epidermal cyst, besides hypernatremia. 30894326 2020
CUI: C1849089
Disease: Broad forehead
Broad forehead
0.100 Biomarker phenotype HPO
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 AlteredExpression phenotype BEFREE We found that lncZic2 is required for the self-renewal of liver TICs in a ZIC2-independent manner. lncZic2 drove the expression of myristoylated alanine-rich protein kinase C substrate (MARCKS) and MARCKS-like 1 (MARCKSL1), whose expression levels were increased during liver tumorigenesis and liver TIC self-renewal. 29588366 2018
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 AlteredExpression disease BEFREE The zinc finger gene ZIC2 has features of an oncogene and its overexpression correlates strongly with the clinical course of epithelial ovarian cancer. 22733541 2012
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.010 GeneticVariation phenotype 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: C4048328
Disease: cervical cancer
cervical cancer
0.020 Biomarker disease BEFREE Hence, the aim of the present study was to evaluate the ability of miR-129-5p to influence cell angiogenesis, invasion and migration by targeting ZIC2 through the Hedgehog signaling pathway in CC. 30260270 2018
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.020 Biomarker disease BEFREE Our results also suggested that centromere protein M, methionine sulfoxide reductase B3 and Zic family member 2 could be promising biomarkers for the prognosis of cervical cancer. 31612001 2019
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.020 Biomarker disease BEFREE Our results also suggested that centromere protein M, methionine sulfoxide reductase B3 and Zic family member 2 could be promising biomarkers for the prognosis of cervical cancer. 31612001 2019
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.020 Biomarker disease BEFREE Hence, the aim of the present study was to evaluate the ability of miR-129-5p to influence cell angiogenesis, invasion and migration by targeting ZIC2 through the Hedgehog signaling pathway in CC. 30260270 2018
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.010 PosttranslationalModification disease BEFREE Additional analysis of 18 sporadic medulloblastomas revealed an overall correlation between highly methylated tumors and poor clinical outcome and identified ZIC2 as a frequently methylated gene in pediatric medulloblastoma. 17344319 2007
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.010 AlteredExpression disease BEFREE We first showed that ZIC2 is highly expressed in osteosarcoma cells and tissues. 28857346 2018