DisGeNET - a database of gene-disease associations

Charcot-Marie-Tooth disease type 4, C4082197

Variant: rs121908287 ×

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:

rs121908287

FIG4

0.700

CausalMutation

CLINVAR

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

24878229

2014

dbSNP:

rs121908287

FIG4

0.700

CausalMutation

CLINVAR

Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.

23489662

2013

dbSNP:

rs121908287

FIG4

0.700

CausalMutation

CLINVAR

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

21705420

2011

dbSNP:

rs121908287

FIG4

0.700

CausalMutation

CLINVAR

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

18556664

2008

dbSNP:

rs121908287

FIG4

0.700

CausalMutation

CLINVAR

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

17572665

2007