DisGeNET - a database of gene-disease associations

Source: ALL

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

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

CausalMutation

CLINVAR

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

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

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

BEFREE

However, further studies are required to elucidate the exact mechanism by which CMTX mutant Cx32 proteins, which retain the ability to form homotypic junctional channels, damage Schwann cells and cause demyelinating neuropathy.

15006706

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

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

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

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

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

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 identified five individuals across three generations in a family with CMTX associated with a mutation in the gene coding for connexin 32.

10639608

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

CausalMutation

CLINVAR

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

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

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

GeneticVariation

BEFREE

This family represents a novel mutation in the GJB1 form of CMTX1.

21607969

2011

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

CausalMutation

CLINVAR

3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands.

10093067

1998