GJB3, gap junction protein beta 3, 2707

N. diseases: 79; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315315
rs74315315
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. 10798362 2000
dbSNP: rs74315316
rs74315316
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. 10798362 2000
dbSNP: rs74315317
rs74315317
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. 10798362 2000
dbSNP: rs74315321
rs74315321
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. 10798362 2000
dbSNP: rs74315315
rs74315315
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. 10594760 1999
dbSNP: rs74315316
rs74315316
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. 10594760 1999
dbSNP: rs74315317
rs74315317
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. 10594760 1999
dbSNP: rs74315321
rs74315321
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. 10594760 1999
dbSNP: rs74315315
rs74315315
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209 1998
dbSNP: rs74315316
rs74315316
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209 1998
dbSNP: rs74315317
rs74315317
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209 1998
dbSNP: rs74315318
rs74315318
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C2675236
Disease:
Deafness, Autosomal Dominant 2B 		0.800 GeneticVariation UNIPROT Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. 9843210 1998
dbSNP: rs74315321
rs74315321
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209 1998
dbSNP: rs74315315
rs74315315
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs74315316
rs74315316
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs74315317
rs74315317
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs74315318
rs74315318
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C2675236
Disease:
Deafness, Autosomal Dominant 2B 		A 0.800 CausalMutation CLINVAR
dbSNP: rs74315321
rs74315321
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs2359644
rs2359644
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C0040420
Disease:
Tonometry 		C 0.700 GeneticVariation GWASCAT Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population. 30591961 2019
dbSNP: rs74315320
rs74315320
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C2675236
Disease:
Deafness, Autosomal Dominant 2B 		0.700 GeneticVariation UNIPROT Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. 9843210 1998
dbSNP: rs121908851
rs121908851
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C2673761
Disease:
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs144964568
rs144964568
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C3711374
Disease:
Nonsyndromic Deafness 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1557659237
rs1557659237
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C2673759
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1557659237
rs1557659237
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C1384666
Disease:
hearing impairment 		A 0.700 CausalMutation CLINVAR
dbSNP: rs28937583
rs28937583
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		C 0.700 CausalMutation CLINVAR