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 Biomarker disease CTD_human
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. 7477983 1995
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32. 7833935 1994
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT These findings are consistent with the disease CMTX1 being the result of mutations affecting the gene connexin 32 (Cx32). 8162049 1994
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 Biomarker disease GENOMICS_ENGLAND Connexin mutations in X-linked Charcot-Marie-Tooth disease. 8266101 1993
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Connexin mutations in X-linked Charcot-Marie-Tooth disease. 8266101 1993
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13. 8628473 1996
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease. 8733054 1996
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. 8807343 1996
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease. 8829637 1996
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families. 8889588 1996
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy. 8956046 1996
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT New mutations in the X-linked form of Charcot-Marie-Tooth disease. 9018031 1997
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). 9099841 1997
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. 9187667 1997
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Connexin32 and X-linked Charcot-Marie-Tooth disease. 9361298 1997
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease. 9452025 1998
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1). 9452099 1998
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression. 9469569 1998
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		1.000 GeneticVariation disease UNIPROT Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies. 9633821 1998