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 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 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
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: 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: 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: 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: 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: 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: 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: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.020 Biomarker disease BEFREE On the basis of the above results, it was hypothesized that GJB4 may be a genetic risk factor for the development of nonsyndromic hearing loss and the data from the present study can be used to direct the clinical evaluation and effectively manage the care of families of children with GJB4. 25333454 2015
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
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE In addition, we demonstrated that Gjb4-mediated Src activation enhanced chemoresistance of cancer cells toward gemcitabine and etoposide. 30177841 2019
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.010 AlteredExpression group 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: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 PosttranslationalModification disease BEFREE We used Progression-free survival Kaplan-Meier analysis and Western blot analysis to detect the expression of GJB4 in GC tissues and cells. 31692499 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE Gjb4 serves as a novel biomarker for lung cancer and promotes metastasis and chemoresistance via Src activation. 30177841 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Using syngeneic mouse model, we observed that Gjb4 was able to promote tumor growth. 30177841 2019
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		0.010 GeneticVariation group 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: 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: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.010 Biomarker disease BEFREE Overexpression or knockdown of Gjb4 increased or decreased lung metastasis of syngeneic mice, respectively. 30177841 2019