DisGeNET - a database of gene-disease associations

Hereditary Motor and Sensory-Neuropathy Type II, C0270914

Variant: rs863224967 ×

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:

rs863224967

MFN2

0.700

CausalMutation

CLINVAR

Genetic heterogeneity of motor neuropathies.

28251916

2017

dbSNP:

rs863224967

MFN2

0.700

CausalMutation

CLINVAR

MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients.

26801520

2016

dbSNP:

rs863224967

MFN2

0.700

CausalMutation

CLINVAR

Chronic and slowly progressive weakness of the legs and hands.

24473995

2014

dbSNP:

rs863224967

MFN2

0.700

CausalMutation

CLINVAR

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.

22926664

2013

dbSNP:

rs863224967

MFN2

0.700

CausalMutation

CLINVAR

Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.

22851605

2012

dbSNP:

rs863224967

MFN2

0.700

CausalMutation

CLINVAR

MFN2 mutations cause compensatory mitochondrial DNA proliferation.

22492563

2012

dbSNP:

rs863224967

MFN2

0.700

CausalMutation

CLINVAR

Phenotypic spectrum of MFN2 mutations in the Spanish population.

19889647

2010

dbSNP:

rs863224967

MFN2

0.700

CausalMutation

CLINVAR

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

16762064

2006

dbSNP:

rs863224967

MFN2

0.700

CausalMutation

CLINVAR

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

16835246

2006