GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Prelingual Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE Among 336 children with prelingual deafness who underwent implantation in our department between 1997 and 2007, 85 with GJB2 gene-related (Cx) deafness and 30 patients with Waardenburg syndrome (WaardS) were included. 22569142 2012
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE Mutations in the genes GJB2 and GJB6 encoding human connnexin26 (hCx26) and connexin30 (hCx30), respectively, are the leading cause of non-syndromic prelingual deafness in several human populations. 22292956 2012
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE This study shows that GJB2 mutations are an important cause of prelingual deafness in the Mexican population. 22925408 2012
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE Determine the prevalence of 35delG mutation in GJB2 gene in patients with prelingual deafness of no defined etiology whose underwent cochlear implant in the Otolaryngology Department at the Hospital de Clínicas de Porto Alegre and compare the speech recognition index using an open-set of sentences according to the presence or absence of the 35delG mutation. 22178340 2012
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE Mutations in Gjb2 and Gjb6 genes, coding for connexin26 (Cx26) and Cx30 proteins, respectively, are linked to about half of all cases of human autosomal non-syndromic prelingual deafness. 22142852 2012
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 Biomarker disease BEFREE Mutations in the genes GJB2 and GJB6, which encode the proteins Connexin 26 (Cx26) and Connexin 30 (Cx30), have been linked to nonsyndromic prelingual deafness in humans. 19450429 2009
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE The GJB2, SLC26A4 and mtDNA A1555G mutations are the prevalent causes of prelingual deafness worldwide. 18274916 2008
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 Biomarker disease BEFREE DFNB1 is the most common identifiable etiology of nonsyndromic prelingual deafness both in sporadic and familial cases in this cohort with ethnic diversity. 18758381 2008
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE Mutations in genes coding for connexin26 (Cx26) and/or Cx30 are linked to approximately half of all cases of human autosomal nonsyndromic prelingual deafness. 17227867 2007
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE Mutations in the GJB2 gene are the most common cause of autosomal recessive nonsyndromic hearing loss and occur in approximately 20% of all cases of prelingual deafness. 18294064 2007
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 Biomarker disease CTD_human Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad. 16172043 2006
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE This is the first reported Czech case, and probably also the first central European case, of prelingual deafness due to mutations involving both the GJB2 and GJB6 genes. 15638823 2005
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE The de135G mutation in the GJB2 gene is the most common cause of prelingual deafness. 16258398 2005
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness. 15305352 2004
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE The most significant clinical finding to date has been the discovery that mutations of GJB2 at the DFNB1 locus are the major cause of profound prelingual deafness in many countries. 12865758 2004
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE Mutations in the connexin 26 gene (GJB2) are responsible for the major part of nonsyndromic autosomal recessive or apparently sporadic prelingual deafness in Caucasians (DFNB1). 12497637 2003
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness. 12792423 2003
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE The aim of our study was to determine the prevalence and spectrum of GJB2 mutations in prelingual deafness in the Greek population. 12176179 2002
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE Hypogonadotrophic hypogonadism associated with prelingual deafness due to a connexin 26 gene mutation. 11874189 2002
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE Some of the 25 families with multiple cases of inherited prelingual deafness and wildtype GJB2 sequences may represent as-yet-unknown genes for inherited hearing loss. 11935342 2002
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE We have sequenced the coding region of GJB2 gene from 169 Taiwanese patients with prelingual deafness and 100 unrelated normal individuals. 12111646 2002
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 Biomarker disease BEFREE Rapid screening procedure of GJB2 can be potentially useful for the identification of prelingual deafness. 12167443 2002
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE We evaluated 33 unrelated probands with nonsyndromic prelingual deafness who had only one GJB2 mutant allele. 11807148 2002
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE Previously, we and others reported a common GJB2 mutation (235delC) in Japanese patients with prelingual deafness. 11698809 2001
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.400 GeneticVariation disease BEFREE (1) The prevalence and types of connexin 26 mutations in a cohort of children with prelingual deafness; (2) the carrier frequency of the common connexin 26 mutation, 35delG, in the general population. 11587277 2001