Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 Biomarker disease BEFREE Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome. 16679758 2006
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE GJB2 mutations can cause deafness in KID syndrome, and possibly in other GJB2 mutant phenotypes, by disrupting cochlear differentiation. 16885744 2006
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE Mutation analysis revealed a novel GJB2 mutation p.Gly59Ser in the patient with Vohwinkel syndrome, whereas a recurrent mutation p.Asp50Asn was found in the patient with KID syndrome. 17106596 2006
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE Clinical examination and molecular analysis of GJB2 were performed in a cohort of 14 patients with KID syndrome originating from 11 families. 17381453 2007
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 CausalMutation disease CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888 2007
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. 18024254 2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 CausalMutation disease CLINVAR Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. 18294064 2007
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss. 18412859 2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome? 18950394 2009
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE The Cx26 N14K mutation was also examined that is associated with deafness but has a skin disorder distinct from the KID syndrome mutations. 18987669 2009
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE These results indicate that KID syndrome in this patient was caused by a dominant mutation of GJB2. 19175781 2009
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE This report describes a patient exhibiting characteristics suggestive of a late-onset, incomplete form of KID syndrome with the GJB2 mutation (p.G12R). 19785089 2009
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26. 19793313 2009
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. 20230788 2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. 20307501 2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE KID syndrome is mostly related to mutations of GJB2 gene encoding connexin-26. 20412116 2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		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
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		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
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		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
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		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
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		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
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		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
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		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
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		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
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		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