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

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

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

GeneticVariation

UNIPROT

X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.

15468313

2005

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 neuropathy with leaky connexin32 hemichannels.

15852376

2005

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

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

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

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

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

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

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 neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.

12207932

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

X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene.

12536289

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

We recently showed that Cx32 containing the CMTX-associated mutation, Ser-85-Cys (S85C), forms functional cell-cell channels in paired Xenopus oocytes.

11891346

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

This report describes six British CMTX families with six novel mutations (four missense, one nonsense, and one frame shift) of the GJB1 gene.

12185164

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

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

X-linked dominant Charcot-Marie-Tooth (CMTX) disease is a motor and sensory neuropathy caused by mutations in the connexin 32 (CX32) gene.

11571214

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

Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.

11723288

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

A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.

11180613

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

Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.

11562788

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

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