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: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4021633
Disease: Patchy palmoplantar keratoderma
Patchy palmoplantar keratoderma 		0.100 Biomarker disease HPO
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 Biomarker disease HPO
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: 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: 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: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		0.020 GeneticVariation group 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: 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: 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: 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: 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: C0037284
Disease: Skin lesion
Skin lesion 		0.010 Biomarker group BEFREE It has similar skin lesions as observed for EKV, including congenital hyperkeratosis and red patches of variable sizes, shapes, and duration. 15668823 2005
CUI: C0859886
Disease: Inherited hearing loss
Inherited hearing loss 		0.020 GeneticVariation disease BEFREE Mutations in five gap junction genes, including GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30) and GJA1 (Cx43) are known to cause inherited hearing loss and/or disorders of the skin and its appendages, often giving rise to overlapping phenotypes. 15757815 2005
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.300 Biomarker disease CTD_human Clinical and genetic heterogeneity of erythrokeratoderma variabilis. 16297190 2005
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		0.020 GeneticVariation group BEFREE The skin disease erythrokeratoderma variabilis (EKV) has been shown to be associated with mutations in GJB3 and GJB4 encoding connexin (Cx)31 and Cx30.3, respectively. 16297190 2005
CUI: C0432330
Disease: Erythrokeratoderma
Erythrokeratoderma 		0.020 GeneticVariation disease BEFREE The skin disease erythrokeratoderma variabilis (EKV) has been shown to be associated with mutations in GJB3 and GJB4 encoding connexin (Cx)31 and Cx30.3, respectively. 16297190 2005
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: 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: C0859886
Disease: Inherited hearing loss
Inherited hearing loss 		0.020 Biomarker disease BEFREE Mutations in connexin genes including GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30) and GJA1 (Cx43) are responsible for various dermatological syndromes and/or inherited hearing loss, frequently showing overlapping phenotypes. 19416251 2009
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.020 GeneticVariation disease BEFREE Our results suggest the variants of GJC3, GJB4, and GJB3 may be the common genetic risk factor, after variants of GJB2, for the development of nonsyndromic HL in Taiwan. 20593197 2010