DisGeNET - a database of gene-disease associations

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B, C4310725

Variant: rs387906990 ×

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:

rs387906990

MFN2

0.800

GeneticVariation

UNIPROT

Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.

26955893

2016

dbSNP:

rs387906990

MFN2

0.800

GeneticVariation

UNIPROT

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

26085578

2015

dbSNP:

rs387906990

MFN2

0.800

GeneticVariation

UNIPROT

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

21715711

2011

dbSNP:

rs387906990

MFN2

0.800

GeneticVariation

UNIPROT

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

20350294

2010

dbSNP:

rs387906990

MFN2

0.800

GeneticVariation

UNIPROT

Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.

18458227

2008

dbSNP:

rs387906990

MFN2

0.800

CausalMutation

CLINVAR