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 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 BEFREE Despite slight differences, phenotypes of EKV Mendes Da Costa (Cx31) and EKV Cram-Mevorah (Cx30.3) show major clinical overlap and both Cx30.3 and Cx31 are expressed in the upper epidermal layers. 14583444 2003
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease BEFREE Mutations in the GJB3 gene, encoding the gap junction protein connexin 31 (Cx31), have been pathogenically linked to erythrokeratodermia variabilis and nonsyndromic autosomal recessive or dominant hereditary hearing impairment. 15131355 2004
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 GeneticVariation disease BEFREE All families with EKV show mapping to chromosome 1p34-p35, and mutations in the gene for connexin 31 (Cx31) have been reported in some but not all families. 11017804 2000
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 CTD_human 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 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 GeneticVariation disease BEFREE 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 GeneticVariation disease BEFREE Only the proband and her unaffected mother exhibited the GJB3 mutation, which is in the same amino acid of a known Erythrokeratodermia variabilis mutation. 29044474 2018
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 GeneticVariation disease BEFREE Erythrokeratodermia variabilis et progressiva (EKV-P) is caused by mutations in either the GJB3 (Cx31) or GJB4 genes (Cx30.3). 29570224 2019