DisGeNET - a database of gene-disease associations

GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121917823

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Alterations at Arg⁷⁶ of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function.

30044662

2018

dbSNP:

rs121917825

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Alterations at Arg⁷⁶ of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function.

30044662

2018

dbSNP:

rs121917827

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Alterations at Arg⁷⁶ of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function.

30044662

2018

dbSNP:

rs140332366

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Alterations at Arg⁷⁶ of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function.

30044662

2018

dbSNP:

rs397514703

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Alterations at Arg⁷⁶ of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function.

30044662

2018

dbSNP:

rs121917823

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.

26683566

2016

dbSNP:

rs121917825

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.

26683566

2016

dbSNP:

rs121917827

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.

26683566

2016

dbSNP:

rs140332366

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.

26683566

2016

dbSNP:

rs397514703

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.

26683566

2016

dbSNP:

rs121917823

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Identification of a novel GJA3 mutation in congenital nuclear cataract.

25635993

2015

dbSNP:

rs121917825

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Identification of a novel GJA3 mutation in congenital nuclear cataract.

25635993

2015

dbSNP:

rs121917827

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Identification of a novel GJA3 mutation in congenital nuclear cataract.

25635993

2015

dbSNP:

rs140332366

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Identification of a novel GJA3 mutation in congenital nuclear cataract.

25635993

2015

dbSNP:

rs397514703

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Identification of a novel GJA3 mutation in congenital nuclear cataract.

25635993

2015

dbSNP:

rs121917823

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.

24772942

2013

dbSNP:

rs121917825

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.

24772942

2013

dbSNP:

rs121917827

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.

24772942

2013

dbSNP:

rs140332366

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.

24772942

2013

dbSNP:

rs397514703

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.

24772942

2013

dbSNP:

rs121917823

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.

22312188

2012

dbSNP:

rs121917825

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.

22312188

2012

dbSNP:

rs121917827

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.

22312188

2012

dbSNP:

rs140332366

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.

22312188

2012

dbSNP:

rs397514703

Entrez Id:	2700
Gene Symbol:	GJA3

GJA3

CUI:	C1866078
Disease:

Cataract, Zonular Pulverulent 3

0.800

GeneticVariation

UNIPROT

Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.

22312188

2012