Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation BEFREE X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary neuropathy caused by mutations in <i>GJB1</i> coding for connexin-32, a gap junction protein expressed in Schwann cells, but also found in oligodendrocytes. 30196252

2019
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation BEFREE A relatively lower frequency of CMTX1 (5.9%) was demonstrated and a broad mutation spectrum of GJB1 was described. 29998508

2018
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation BEFREE The current study uncovered that loss of the C-terminus in Cx32 (R220X mutation), which causes a severe CMTX1 phenotype, inhibits hemichannel opening during a canonical IP3-mediated increase in cytosolic Ca2+ in HeLa cells. 29077882

2018
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation BEFREE We assessed manifestations associated with a rare 3' untranslated region mutation (UTR) of GJB1 in a large family with X-linked Charcot-Marie-Tooth disease (CMTX). 29236290

2018
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation BEFREE Generation of induced pluripotent stem cell (iPSC) line from a 36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation (CMTX). 28677541

2017
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation BEFREE This study provides a comprehensive summary of the clinical features and spectrum of GJB1 gene mutations in Korean CMTX1 patients. 28448691

2017
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 Biomarker BEFREE Mutations in <i>GJB1</i> cause the main X-linked form of CMTX (CMTX1). 28768847

2017
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 CausalMutation CLINVAR Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT. 28283593

2017
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 CausalMutation CLINVAR Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). 28768847

2017
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation 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
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 Biomarker GENOMICS_ENGLAND Update on Leukodystrophies: A Historical Perspective and Adapted Definition. 27564080

2016
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 Biomarker 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
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation BEFREE Pathogenic variants of the gap junction beta 1 (GJB1) gene are responsible for the Charcot-Marie-Tooth neuropathy X type 1 (CMTX1). 27544631

2016
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 Biomarker BEFREE 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
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 Biomarker BEFREE The phenotypic analysis of these cells confirmed strong similarities between the GJB1 transgenic mouse cell lines and CMTX1 patient fibroblast cell lines. 25947624

2015
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

2015
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation BEFREE We investigated a Chinese family with CMTX and identified a novel GJB1 point mutation. 25595958

2015
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 CausalMutation CLINVAR Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. 26392352

2015
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation BEFREE X-linked Charcot-Marie-Tooth disease (CMTX1) results from numerous mutations in the GJB1 gene encoding the gap junction protein connexin32 (Cx32) and is one of the commonest forms of inherited neuropathy. 25771809

2015
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 Biomarker GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685

2014
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 CausalMutation CLINVAR Mutational analysis of the 5' non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy. 23827825

2013
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 CausalMutation CLINVAR Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32. 23209285

2013
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation BEFREE The frequency of CMTX (5.3%) caused by Cx32 mutation in Koreans is similar to those in Asians but lower than those in Europeans. 21291455

2012
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation BEFREE This family represents a novel mutation in the GJB1 form of CMTX1. 21607969

2011