GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
Disease: Cataract, Zonular Pulverulent 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 Biomarker disease GENOMICS_ENGLAND Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 GeneticVariation disease CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 GeneticVariation disease CLINVAR Structure-function correlation analysis of connexin50 missense mutations causing congenital cataract: electrostatic potential alteration could determine intracellular trafficking fate of mutants. 25003127 2014
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 GeneticVariation disease BEFREE A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract. 23592913 2013
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 GeneticVariation disease UNIPROT Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 23508780 2013
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 Biomarker disease MGD Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2. 23300808 2012
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 GeneticVariation disease UNIPROT Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract. 21174522 2011
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 GeneticVariation disease CLINVAR Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50. 21228318 2011
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 GeneticVariation disease UNIPROT Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract. 21921990 2011
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 GeneticVariation disease UNIPROT A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. 18006672 2008
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 Biomarker disease RGD Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q. 18470322 2008
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 GeneticVariation disease CLINVAR A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin. 18334946 2008
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 GeneticVariation disease UNIPROT Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. 16604058 2006
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 GeneticVariation disease UNIPROT Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract. 16234473 2005
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 Biomarker disease GENOMICS_ENGLAND A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. 14627691 2003
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 GeneticVariation disease UNIPROT A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. 14627691 2003
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 GeneticVariation disease UNIPROT Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. 11846744 2001
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 GeneticVariation disease BEFREE Loci for autosomal dominant "zonular pulverulent" cataract have been mapped to chromosomes 1q (CZP1) and 13q (CZP3). 10205266 1999
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 GeneticVariation disease UNIPROT "Connexin 50 mutation in a family with congenital ""zonular nuclear"" pulverulent cataract of Pakistani origin." 10480374 1999
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 GeneticVariation disease BEFREE A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. 9497259 1998
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 GeneticVariation disease UNIPROT "A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant ""zonular pulverulent"" cataract, on chromosome 1q." 9497259 1998
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 Biomarker disease MGD Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts. 9813099 1998
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 CausalMutation disease CLINVAR
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 Biomarker disease CTD_human
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		0.930 Biomarker disease GENOMICS_ENGLAND