Source: UNIPROT

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 UNIPROT Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. Online. 10220155

1999
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 Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1). 9452099

1998
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 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
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation 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
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation 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
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 Two point mutations affecting different domains of Cx32 were identified in two CMTX patients. 11140841

2000
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 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
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation UNIPROT A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease. 10938190

2000
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 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375

2002
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 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
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation UNIPROT Ten families with X-linked dominant CMT neuropathy (CMTX1) were screened for point mutations of the connexin32 (Cx32, GJB1) gene. 8004109

1994
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 New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. 7477983

1995
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 The identification of new CMTX-causing mutations is a critical step for carrier detection and presymptomatic diagnosis, and should provide essential information on the structure-function relationship of Cx32 in vitro as well as in vivo. 8698335

1996
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 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
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation 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
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation UNIPROT HMSN and HNPP. Laboratory service provision in the south west of England--two years' experience. 10586284

1999
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 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
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation 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
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation UNIPROT Five CMTX1 families with mild clinical phenotype showed no point mutations of the cx32 gene coding region. 8737658

1996
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 Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). 9099841

1997
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 Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. 12497641

2003
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 Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene. 10071100

1999
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 Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations. 8990008

1997
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 Our findings show the difficulty in distinguishing CMTX patients from CMT1 and CMT2 patients, and they emphasize the need for Cx32 mutation screening in families previously diagnosed with CMT2. 9272161

1997
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 Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene. 10894999

2000