GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 31160754 2019
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE A group of human mutations within the N-terminal (NT) domain of connexin 26 (Cx26) hemichannels produce aberrant channel activity, which gives rise to deafness and skin disorders, including keratitis-ichthyosis-deafness (KID) syndrome. 30530766 2019
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE GJB2 p.G45E and p.A88V are the only KID syndrome mutations associated with uniform early lethality. 30287322 2019
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE Furthermore, we revealed that the expressions of IL15, CCL5, IL1A, IL23R and TLR5 are down-regulated in keratinocytes expressing Cx26-D50N, suggesting that immune deficiency in KID syndrome expressing Cx26-D50N might be associated not only with skin barrier defects, but also with the down-regulated expression of immune response-related genes. 30150638 2018
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE Keratitis-ichthyosis-deafness (KID) syndrome is a rare genodermatosis that typically results from mutations of the GJB2 gene or, less commonly, the GJB6 gene. 29742560 2018
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE In 2009 the term porokeratotic anexial ostial nevus was proposed to comprehend porokeratotic eccrine and hair follicle nevus and a related and more common process without follicular involvement: porokeratotic eccrine ostial and dermal duct nevus Recent findings suggest that both entities may be produced by a mutation in GJB2 gene, which is associated to KID syndrome. 29267468 2017
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE These results indicated that GJB2 mutation (p.G12R) in this case of KID syndrome, which was susceptible to T. rubrum infection, might be attributed to a limited native immune response. 28635012 2017
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report. 27141831 2016
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE Here, we assessed the effect of two Cx26 mutations associated with KID syndrome, Cx26I30N and D50Y, on protein biosynthesis and channel function in N2A and HeLa cells. 26831144 2016
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE There are significant differences in the clinical picture of two rare autosomal dominant syndromes: keratitis-ichthyosis-deafness (KID) syndrome and hidrotic ectodermal dysplasia (Clouston syndrome), which are caused by GJB2 and GJB6 mutations, respectively. 25575739 2015
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 AlteredExpression disease BEFREE Because in the human skin connexin 26 (Cx26) is co-expressed with other connexins, like Cx43 and Cx30, and as the KID syndrome is inherited as autosomal dominant condition, it is possible that KID mutations change the way Cx26 interacts with other co-expressed connexins. 25625422 2015
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 Biomarker disease BEFREE Pharmacological modulators of Cx26 are needed to assess the pathomechanistic involvement of hemichannels in the development of hyperkeratosis in KID syndrome. 25229253 2015
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 Biomarker disease BEFREE Excessive opening of undocked Cx26 hemichannels in the plasma membrane is associated with disease pathogenesis in keratitis-ichthyosis-deafness (KID) syndrome. 24939841 2014
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. 23924173 2013
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE Collectively, these data provide insight into Cx26 structure-function and the underlying bases for the phenotypes associated with KID syndrome patients carrying the D50N mutation. 23797419 2013
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE These results show that these two mutations exhibit a shared gain of functional activity and support the hypothesis that increased hemichannel activity is a common feature of human Cx26 mutations responsible for KID syndrome. 23447037 2013
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE Substitution of glycine at the position 45 of Cx26 to glutamic acid (p.G45E mutation) causes the Keratitis-ichthyosis-deafness (KID) syndrome. 23756814 2013
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE Several cases of widespread involvement have been reported, including one in association with the keratitis-ichthyosis-deafness (KID) syndrome (OMIM #148210), a rare disorder caused by mutations in the GJB2 gene coding for the gap junction protein connexin26 (Cx26). 22592158 2012
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE Mutations in Connexin26 (Cx26) give rise to a spectrum of dominantly inherited hyperproliferating skin disorders, the severest being keratitis-ichthyosis-deafness (KID) syndrome, an inflammatory skin disorder, with patients prone to opportunistic infections. 22643125 2012
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE Here, we review a proposed role for hemichannels in the pathogenesis of Keratitis-Ichthyosis-Deafness (KID) syndrome associated with connexin26 (Cx26) mutations. 21933663 2012
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE A G12R (p.Gly12Arg) is a GJB2 mutation reported in only two patients with KID syndrome to date. 22011219 2012
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C>T; p.Ala88Val) leading to KID syndrome. 20846357 2011
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. 20307501 2010
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE KID syndrome is mostly related to mutations of GJB2 gene encoding connexin-26. 20412116 2010
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease BEFREE Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. 20230788 2010