GJB3, gap junction protein beta 3, 2707

N. diseases: 79; N. variants: 16
Disease: Erythrokeratodermia variabilis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease CLINGEN Mutations in the genes GJB3 and GJB4, which encode connexin (Cx)31 and Cx30.3, are associated with EKV. 21188847 2011
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease CLINGEN A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis. 18482034 2008
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease CLINGEN An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis. 21879244 2011
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease 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
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease CLINGEN We have now investigated GJB3 in two families and three sporadic cases with EKV, and report three new heterozygous mutations. 10798362 2000
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease CLINGEN A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family. 22681493 2012
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease CLINGEN A novel, recurrent GJB3 mutation (625C-->T; L209F) was identified in the family with EKV and in the unrelated sporadic case. 15948974 2005
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease CLINGEN Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function. 26632638 2016
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease CLINGEN Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis. 21950330 2012
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease CLINGEN Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. 10594760 1999
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease CLINGEN Erythrokeratodermia variabilis: first Japanese case documenting GJB3 mutation. 23442023 2013
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease 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
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease 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
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease 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
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease CLINGEN Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209 1998
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease CLINGEN Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. 12176042 2002
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease GENOMICS_ENGLAND We have now investigated GJB3 in two families and three sporadic cases with EKV, and report three new heterozygous mutations. 10798362 2000
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease GENOMICS_ENGLAND Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209 1998
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease GENOMICS_ENGLAND Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. 10594760 1999
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 GermlineCausalMutation disease ORPHANET Erythrokeratoderma variabilis caused by a recessive mutation in GJB3. 21564177 2011
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease MGD
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease CTD_human Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209 1998
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 GeneticVariation disease BEFREE A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. 12019212 2002
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 GeneticVariation disease BEFREE 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
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 GeneticVariation disease BEFREE These mutations include G12D, which replaces a conserved glycine residue in the amino-terminus of Cx31 and is associated with a severe EKV phenotype. 12702148 2003