GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434643
rs121434643
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		0.800 GeneticVariation UNIPROT Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 23508780 2013
dbSNP: rs121434643
rs121434643
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		0.800 GeneticVariation UNIPROT Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract. 21921990 2011
dbSNP: rs121434643
rs121434643
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		0.800 GeneticVariation UNIPROT Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract. 21174522 2011
dbSNP: rs121434643
rs121434643
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		0.800 GeneticVariation UNIPROT A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. 18006672 2008
dbSNP: rs121434643
rs121434643
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		0.800 GeneticVariation UNIPROT Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. 16604058 2006
dbSNP: rs121434643
rs121434643
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		0.800 GeneticVariation UNIPROT Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract. 16234473 2005
dbSNP: rs121434643
rs121434643
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		0.800 GeneticVariation UNIPROT A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. 14627691 2003
dbSNP: rs121434643
rs121434643
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		0.800 GeneticVariation UNIPROT Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. 11846744 2001
dbSNP: rs121434643
rs121434643
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		0.800 GeneticVariation UNIPROT "Connexin 50 mutation in a family with congenital ""zonular nuclear"" pulverulent cataract of Pakistani origin." 10480374 1999
dbSNP: rs121434643
rs121434643
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		0.800 GeneticVariation UNIPROT "A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant ""zonular pulverulent"" cataract, on chromosome 1q." 9497259 1998
dbSNP: rs121434643
rs121434643
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs80358200
rs80358200
Entrez Id: 2703;105371229
Gene Symbol: GJA8;LOC105371229
GJA8;LOC105371229
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs80358200
rs80358200
Entrez Id: 2703;105371229
Gene Symbol: GJA8;LOC105371229
GJA8;LOC105371229
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs80358201
rs80358201
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs80358201
rs80358201
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs80358203
rs80358203
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs80358203
rs80358203
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs80358204
rs80358204
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs80358204
rs80358204
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs80358205
rs80358205
Entrez Id: 2703;105371229
Gene Symbol: GJA8;LOC105371229
GJA8;LOC105371229
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs80358205
rs80358205
Entrez Id: 2703;105371229
Gene Symbol: GJA8;LOC105371229
GJA8;LOC105371229
CUI: C1861828
Disease:
Cataract, Zonular Pulverulent 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs1553242554
rs1553242554
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family. 27785597 2017
dbSNP: rs864309703
rs864309703
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family. 27785597 2017
dbSNP: rs1553242554
rs1553242554
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
dbSNP: rs864309677
rs864309677
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C0009691
Disease:
Congenital cataract 		T 0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016