GJB4, gap junction protein beta 4, 127534

N. diseases: 50; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.670 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
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.670 GeneticVariation disease BEFREE Erythrokeratodermia variabilis et progressiva (EKVP) is a genodermatosis with clinical and genetic heterogeneity, most often transmitted in an autosomal dominant manner, caused by mutations in GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3, respectively.In this issue, Boyden et al. 25964267 2015
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.670 GermlineCausalMutation disease ORPHANET Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis. 23037955 2013
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.670 Biomarker disease BEFREE Mutations associated with EKV have been identified in the connexin (Cx) genes GJB3 (Cx31) and GJB4 (Cx30.3), however, several cases of EKV have been tested negative for mutations in these two Cx genes. 22266302 2012
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.670 GeneticVariation disease BEFREE Apparently, the same GJB4 mutation may cause either an EKV or a PSEK phenotype. 19291775 2009
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.670 GeneticVariation disease BEFREE In this study, we sequenced the coding region of GJB4 in 13 unrelated erythrokeratodermia variabilis families without detectable mutations in GJB3. 12648223 2003
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.670 Biomarker disease GENOMICS_ENGLAND In this study, we sequenced the coding region of GJB4 in 13 unrelated erythrokeratodermia variabilis families without detectable mutations in GJB3. 12648223 2003
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.670 GeneticVariation disease BEFREE We recently identified mutations in either GJB3 or GJB4 genes, encoding respectively connexin 31 (Cx31) or 30.3 (Cx30.3), as causally involved in erythrokeratodermia variabilis (EKV), a mostly autosomal dominant disorder of keratinization. 14583444 2003
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.670 GeneticVariation disease BEFREE The human GJB4 gene has been deduced in silico and a mutation in a family with erythrokeratodermia variabilis has been reported. 11933201 2002
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.670 GeneticVariation disease CLINVAR
CUI: C4479618
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.600 Biomarker disease GENOMICS_ENGLAND Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis. 23037955 2013
CUI: C4479618
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.600 Biomarker disease GENOMICS_ENGLAND Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis. 21950330 2012
CUI: C4479618
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.600 GeneticVariation disease UNIPROT The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. 19291775 2009
CUI: C4479618
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.600 Biomarker disease GENOMICS_ENGLAND Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. 12648223 2003
CUI: C4479618
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.600 GeneticVariation disease UNIPROT Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. 12648223 2003
CUI: C4479618
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.600 GeneticVariation disease UNIPROT Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. 11017804 2000
CUI: C4479618
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.600 CausalMutation disease CLINVAR
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.300 Biomarker disease CTD_human Clinical and genetic heterogeneity of erythrokeratoderma variabilis. 16297190 2005
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.110 Biomarker disease BEFREE Mutations in connexin 31 (GJB3) and connexin 30.3 (GJB4), implicated in previous reports of EKV, and connexin 26 (GJB2), implicated in palmoplantar keratoderma, were unlikely given the lack of shared homozygous haplotypes in the regions surrounding these genes. 15668823 2005
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 GeneticVariation phenotype BEFREE These GJB4 variants should help to define the putative role of connexin 30.3 in both skin disorders and hearing impairment. 11933201 2002
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 Biomarker phenotype HPO
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.110 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		0.100 Biomarker phenotype HPO
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.100 Biomarker group HPO