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 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 Immunostaining of a biopsy taken from an EKV patient harbouring the R42P mutation revealed sparse epidermal staining of Cx31, and, when present, it had a perinuclear localization. 12165562 2002
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 Mutations in the connexin 31 (GJB3) gene have been found in subjects with dominant and recessive deafness and in patients with erythrokeratodermia variabilis. 11309368 2001
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 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 GeneticVariation disease BEFREE 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 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 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 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 GeneticVariation disease BEFREE 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 Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209 1998
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 CLINGEN Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209 1998
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.900 Biomarker disease MGD