Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker CLINGEN Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function. 26632638

2016
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker CLINGEN The study suggests that Cx31 mutant proteins are un/misfolded to cause EKV likely via an AP-1-mediated mechanism and identifies a small molecule with therapeutic potential of the disease. 26251042

2015
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker CLINGEN A sporadic elder case of erythrokeratodermia variabilis with a single base-pair transversion in GJB3 gene successfully treated with systemic vitamin A derivative. 25297803

2014
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker CLINGEN Erythrokeratodermia variabilis: first Japanese case documenting GJB3 mutation. 23442023

2013
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker CLINGEN The study identifies a mechanism of EKV pathogenesis induced by a Cx31 mutant and provides a new avenue for potential treatment strategy of the disease. 22393412

2012
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker CLINGEN A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family. 22681493

2012
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker CLINGEN Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis. 21950330

2012
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker CLINGEN Mutations in the genes GJB3 and GJB4, which encode connexin (Cx)31 and Cx30.3, are associated with EKV. 21188847

2011
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker CLINGEN An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis. 21879244

2011
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker CLINGEN We also show that a mutation of human Connexin 31, which causes erythrokeratoderma variabilis, induces ER stress and p63-dependent epidermal apoptosis in the zebrafish embryo, thus implicating this pathway in the pathogenesis of inherited disease. 21920315

2011
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker CLINGEN A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis. 18482034

2008
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker CLINGEN A novel, recurrent GJB3 mutation (625C-->T; L209F) was identified in the family with EKV and in the unrelated sporadic case. 15948974

2005
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker CLINGEN Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. 12176042

2002
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker CLINGEN We have now investigated GJB3 in two families and three sporadic cases with EKV, and report three new heterozygous mutations. 10798362

2000
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker CLINGEN Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. 10594760

1999
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker CLINGEN Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209

1998