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: 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 Biomarker group CTD_human Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives. 15136147 2004
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: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.300 Biomarker group CTD_human Integrative molecular concept modeling of prostate cancer progression. 17173048 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 Biomarker group HPO
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.050 Biomarker group BEFREE ZIC5 is also located close to ZIC2 in humans, and deletions of 13q32, where ZIC2 is located, lead to congenital brain and digit malformations known as the "13q32 deletion syndrome". 15136147 2004
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 Biomarker group BEFREE Haploinsufficiency for ZIC2 is likely to cause the brain malformations seen in 13q deletion patients. 9771712 1998
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 AlteredExpression group BEFREE Studies in the mouse models have suggested that over expression of ZIC2 may also lead to brain malformations. 22105922 2012
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: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE The prognostic value of ZIC2 proved to be independent from established clinicopathological variables including Gleason grade, tumour stage, nodal stage and prostate-specific-antigen. 31640781 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group 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: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE Zic2 promotes tumor growth and metastasis via PAK4 in hepatocellular carcinoma. 28577975 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 AlteredExpression group BEFREE ZIC2 expression was about 40-fold in terms of mRNA and about 17-fold in terms of protein in MAL (n = 193) versus LMP (n = 39) tumors. 22733541 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 AlteredExpression group BEFREE Our data showed that Zic2 expression gradually increased from normal to cancer to metastatic tissues. 28577975 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 AlteredExpression group BEFREE The mRNA and protein expression levels of ZIC1 were both found to be significantly decreased in the GC tissues compared to matched normal mucosa tissues (GC vs. normal, 2.15±0.69 vs. 4.28±0.95; P<0.001); however, ZIC2-5 expression exhibited no significant difference between the cancer and normal tissue samples. 27177248 2016
CUI: C0302142
Disease: Deformity
Deformity
0.020 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: C0302142
Disease: Deformity
Deformity
0.020 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