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: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.100 Biomarker phenotype HPO
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE Gap junction beta-4 protein (GJB4), or connexin 30.3, a member of integral membrane proteins, has been shown to involve and may function as a tumor promoter in tumorigenesis. 31692499 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 AlteredExpression disease BEFREE We found that Gjb4 expression was higher in lung tumors than normal tissues (p = 0.0026), and Gjb4 levels in blood buffy coat samples showed significant performance in diagnosing stage I-III (p = 0.002814) and stage IV (p < 0.0001) lung cancer. 30177841 2019
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		0.100 Biomarker phenotype HPO
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: 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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.100 Biomarker group HPO
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 Biomarker phenotype HPO
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0041834
Disease: Erythema
Erythema 		0.100 Biomarker phenotype HPO
CUI: C0432330
Disease: Erythrokeratoderma
Erythrokeratoderma 		0.020 GeneticVariation disease BEFREE Erythrokeratoderma variabilis (EKV) is a rare disorder of cornification usually associated with dominant mutations in the genes GJB3 and GJB4, which code for connexin (Cx)31 and Cx30.3, respectively, and contribute to the formation of functional gap junctions in the epidermis. 21564177 2011
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 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 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 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 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 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 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 BEFREE Apparently, the same GJB4 mutation may cause either an EKV or a PSEK phenotype. 19291775 2009