DisGeNET - a database of gene-disease associations

Charcot-Marie-Tooth disease, Type 1D (disorder), C1843247

Variant: rs104894159 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894159

EGR2

0.800

GeneticVariation

UNIPROT

Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.

15947997

2005

dbSNP:

rs104894159

EGR2

0.800

GeneticVariation

UNIPROT

Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

15241803

2004

dbSNP:

rs104894159

EGR2

0.800

GeneticVariation

UNIPROT

Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.

12736090

2003

dbSNP:

rs104894159

EGR2

0.800

GeneticVariation

UNIPROT

A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1.

11239949

2001

dbSNP:

rs104894159

EGR2

0.800

GeneticVariation

UNIPROT

Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.

10762521

2000

dbSNP:

rs104894159

EGR2

0.800

GeneticVariation

UNIPROT

A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.

10502832

1999

dbSNP:

rs104894159

EGR2

0.800

GeneticVariation

UNIPROT

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.

9537424

1998

dbSNP:

rs104894159

EGR2

0.800

CausalMutation

CLINVAR