DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Charcot-Marie-Tooth disease, X-linked, 1 ×

Gene: GJB1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

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

Biomarker

CTD_human

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

Connexin mutations in X-linked Charcot-Marie-Tooth disease.

8266101

1993

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

Connexin mutations in X-linked Charcot-Marie-Tooth disease.

8266101

1993

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

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

CUI:	C0393808
Disease:	Charcot-Marie-Tooth disease, X-linked, 1

Charcot-Marie-Tooth disease, X-linked, 1

1.000

GeneticVariation

UNIPROT

X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.

7833935

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

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

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

CUI:	C0393808
Disease:	Charcot-Marie-Tooth disease, X-linked, 1

Charcot-Marie-Tooth disease, X-linked, 1

1.000

GeneticVariation

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

CUI:	C0393808
Disease:	Charcot-Marie-Tooth disease, X-linked, 1

Charcot-Marie-Tooth disease, X-linked, 1

1.000

GeneticVariation

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

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 connexin 32 gene associated with X-linked Charcot-Marie tooth disease.

8829637

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

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

CUI:	C0393808
Disease:	Charcot-Marie-Tooth disease, X-linked, 1

Charcot-Marie-Tooth disease, X-linked, 1

1.000

GeneticVariation

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

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

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

Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.

10732813

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

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

CUI:	C0393808
Disease:	Charcot-Marie-Tooth disease, X-linked, 1

Charcot-Marie-Tooth disease, X-linked, 1

1.000

GeneticVariation

UNIPROT

New mutations in the X-linked form of Charcot-Marie-Tooth disease.

9018031

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

Connexin32 and X-linked Charcot-Marie-Tooth disease.

9361298

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

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

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

CUI:	C0393808
Disease:	Charcot-Marie-Tooth disease, X-linked, 1

Charcot-Marie-Tooth disease, X-linked, 1

1.000

GeneticVariation

UNIPROT

A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease.

9452025

1998