ZIC3, Zic family member 3, 7547

N. diseases: 93; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		0.100 Biomarker phenotype HPO
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.130 Biomarker disease HPO
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.130 Biomarker disease BEFREE The Zic3 mouse model provides a novel tool to dissect the mechanistic underpinnings of conduction system patterning and dysfunction and its relationship to cardiovascular malformations, making it a promising model to improve understanding and risk assessment in the clinical arena. 20581739 2010
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.130 GeneticVariation disease BEFREE In humans, loss-of-function mutations in ZIC3 cause isolated cardiovascular malformations and X-linked heterotaxy, a disorder with abnormal left-right asymmetry of organs. 23303524 2013
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.130 GeneticVariation disease BEFREE Mutations in Zinc Finger Protein of the Cerebellum 3 (ZIC3) cause X-linked heterotaxy and isolated cardiovascular malformations. 23999067 2013
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column 		0.100 Biomarker phenotype HPO
CUI: C1405984
Disease: Absent radius
Absent radius 		0.100 Biomarker disease HPO
CUI: C0266631
Disease: Accessory spleen
Accessory spleen 		0.100 Biomarker disease HPO
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		0.300 Biomarker group GENOMICS_ENGLAND From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders. 21465648 2011
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.100 Biomarker disease HPO
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.010 AlteredExpression disease BEFREE Further, miR-155-5p was negative correlated with the expression of FOS and ZIC3 in cells from AAA patients. 30898623 2019
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		0.010 AlteredExpression disease BEFREE Further, miR-155-5p was negative correlated with the expression of FOS and ZIC3 in cells from AAA patients. 30898623 2019
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.100 Biomarker disease HPO
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		0.010 GeneticVariation disease BEFREE Patients with TGA (n = 169), double outlet right ventricle (DORV; n = 89), common atrioventricular canal (CAVC; n = 41), and heterotaxy (n = 54) underwent sequencing of ZIC3 exons. 23427188 2013
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		0.100 Biomarker disease HPO
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		0.300 Biomarker group CTD_human Craniofacial, skeletal, and cardiac defects associated with altered embryonic murine Zic3 expression following targeted insertion of a PGK-NEO cassette. 17127413 2007
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 AlteredExpression disease BEFREE ZIC3 overexpression impaired the suppressive effects of miR-564 on the capacity of lung cancer cells for proliferation and motility. 26498524 2015
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		0.010 GeneticVariation group BEFREE Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3. 16926859 2006
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.100 Biomarker phenotype HPO
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		0.010 Biomarker disease BEFREE Zic1, Zic2, Zic3, and Zic5 proteins are required for the development of neural crest derivatives, including the meningeal membrane and facial bones, and deficiency of these proteins causes cortical lamination defects resembling those in type II lissencephaly. 29442325 2018
CUI: C0221215
Disease: Common atrioventricular canal
Common atrioventricular canal 		0.010 GeneticVariation disease BEFREE Patients with TGA (n = 169), double outlet right ventricle (DORV; n = 89), common atrioventricular canal (CAVC; n = 41), and heterotaxy (n = 54) underwent sequencing of ZIC3 exons. 23427188 2013
CUI: C0392482
Disease: Common atrium
Common atrium 		0.100 Biomarker disease HPO
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.040 GeneticVariation group BEFREE The birth incidence of heterotaxy-spectrum malformations is significantly higher in males, but our previous work indicated that mutations within ZIC3 did not account for the male over-representation. 21858219 2011