ZIC3, Zic family member 3, 7547

N. diseases: 93; N. variants: 19
Disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931228
Disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 		0.500 GeneticVariation disease UNIPROT Genetic and functional analyses of ZIC3 variants in congenital heart disease. 24123890 2014
CUI: C2931228
Disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 		0.500 Biomarker disease GENOMICS_ENGLAND From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders. 21465648 2011
CUI: C2931228
Disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 		0.500 Biomarker disease GENOMICS_ENGLAND Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? 20452998 2010
CUI: C2931228
Disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 		0.500 GeneticVariation disease UNIPROT Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? 20452998 2010
CUI: C2931228
Disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C2931228
Disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C2931228
Disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 		0.500 Biomarker disease GENOMICS_ENGLAND