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: C0014511
Disease: Epithelial cyst
Epithelial cyst 		0.010 GeneticVariation phenotype 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: C0016169
Disease: pathologic fistula
pathologic fistula 		0.010 GeneticVariation phenotype 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: C0020488
Disease: Hypernatremia
Hypernatremia 		0.010 GeneticVariation phenotype 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: 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 AlteredExpression disease BEFREE In summary, ZIC2 was upregulated in AML tissues, and restoration of ZIC2 expression was able to promote the proliferation and reduce the apoptosis of AML cells transfected with miR‑1271‑5p mimics. 30483794 2019
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: C0085636
Disease: Photophobia
Photophobia 		0.010 AlteredExpression phenotype BEFREE A subset of Zic2cre<sup>ER</sup> neurons are PSDC neurons that project to brainstem dorsal column nuclei, and chemogenetic activation of Zic2 PSDC neurons increases sensitivity to light touch stimuli. 31586516 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 AlteredExpression disease BEFREE We first showed that ZIC2 is highly expressed in osteosarcoma cells and tissues. 28857346 2018
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: 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: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract 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: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 Biomarker 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
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		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: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 AlteredExpression disease BEFREE We first showed that ZIC2 is highly expressed in osteosarcoma cells and tissues. 28857346 2018
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: 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
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE Zic2 overexpression promoted, whereas Zic2 knockdown inhibited, cell proliferation and migration in vitro as well as tumor growth and metastasis in vivo. 28577975 2017
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma 		0.010 Biomarker disease BEFREE ZIC2 Is Essential for Maintenance of Latency and Is a Target of an Immediate Early Protein during Kaposi's Sarcoma-Associated Herpesvirus Lytic Reactivation. 28835494 2017
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.010 Biomarker group 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: 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: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 Biomarker disease BEFREE Functionally, the HOXA10-ZIC2 axis can enhance NPC cell proliferation and invasion. 28338202 2017
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
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: C0685787
Disease: Cleft face
Cleft face 		0.010 GeneticVariation disease BEFREE In documented patients from the literature, only 2% of individuals with described pathogenic mutations in the ZIC2 gene (3/171) presented facial clefts, one of them a nasal cleft, while common oral clefts were observed in 27% of individuals (7/26) described with nonpathogenic ZIC2 mutations or presenting a concomitant mutation in another HPE gene. 24677696 2014
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		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: 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