Gene: GJB1 ×
Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031 2017
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 Biomarker disease GENOMICS_ENGLAND Update on Leukodystrophies: A Historical Perspective and Adapted Definition. 27564080 2016
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 Biomarker disease GENOMICS_ENGLAND In this review, the authors focus on the origin and classification of CMTX, the central nervous system manifestations of CMTX1, the possible mechanism by which GJB1 mutations cause CMT1X, and the emerging therapeutic strategies for CMTX. 26385972 2016
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene. 15468313 2005
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Severe neuropathy with leaky connexin32 hemichannels. 15852376 2005
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803 2004
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32. 14627639 2003
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. 12707076 2003
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. 12477701 2003
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. 12497641 2003
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Cx32 is widely expressed in brain and peripheral nerve, yet clinical manifestations of CMTX mainly arise from peripheral neuropathy. 12325071 2002
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. 12402337 2002
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375 2002
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. 12207932 2002
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene. 12536289 2002
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT We recently showed that Cx32 containing the CMTX-associated mutation, Ser-85-Cys (S85C), forms functional cell-cell channels in paired Xenopus oocytes. 11891346 2002
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT This report describes six British CMTX families with six novel mutations (four missense, one nonsense, and one frame shift) of the GJB1 gene. 12185164 2002
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families. 11438991 2001
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity. 11437164 2001
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT X-linked dominant Charcot-Marie-Tooth (CMTX) disease is a motor and sensory neuropathy caused by mutations in the connexin 32 (CX32) gene. 11571214 2001
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene. 11723288 2001
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease. 11180613 2001
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing. 11562788 2001
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease. 10923043 2000