GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011053
Disease: Deafness
Deafness 		0.450 GeneticVariation phenotype LHGDN Mutations in Gap Junction Beta 2 (GJB2) (the gene encoding the protein Connexin 26) have been found to be a major cause of non-syndromic sensorineural recessive deafness. 18983339 2008
CUI: C0011053
Disease: Deafness
Deafness 		0.450 Biomarker phenotype CTD_human Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad. 16172043 2006
CUI: C0011053
Disease: Deafness
Deafness 		0.450 GeneticVariation phenotype LHGDN We show that in the Czech Republic the Delta(GJB6-D13S1830) is not the second most common causal factor in deafness patients heterozygous for a single GJB2 mutation, and that Delta(GJB6-D13S1830) is very rare in central Europe compared to reports from Spain, France and Israel. 15638823 2005
CUI: C0011053
Disease: Deafness
Deafness 		0.450 GeneticVariation phenotype LHGDN Transport and function of cx26 mutants involved in skin and deafness disorders. 14681041 2004
CUI: C0011053
Disease: Deafness
Deafness 		0.450 GeneticVariation phenotype LHGDN In contrast, most recessive Cx26 mutations (identified in DFNB1 patients) resulted in a simple loss of channel activity. 12505163 2003
CUI: C0011053
Disease: Deafness
Deafness 		0.450 GeneticVariation phenotype LHGDN Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. 11935342 2002
CUI: C0011053
Disease: Deafness
Deafness 		0.450 CausalMutation phenotype CLINVAR