DisGeNET - a database of gene-disease associations

Peripheral demyelinating neuropathy, C0270922

Variant: rs104894708 ×

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:

rs104894708

PRX

0.700

CausalMutation

CLINVAR

The use of whole-exome sequencing to disentangle complex phenotypes.

26059842

2016

dbSNP:

rs104894708

PRX

0.700

CausalMutation

CLINVAR

Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.

22847150

2012

dbSNP:

rs104894708

PRX

0.700

CausalMutation

CLINVAR

Four novel cases of periaxin-related neuropathy and review of the literature.

21079185

2010

dbSNP:

rs104894708

PRX

0.700

CausalMutation

CLINVAR

Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.

15197604

2004

dbSNP:

rs104894708

PRX

0.700

CausalMutation

CLINVAR

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

11157804

2001