DisGeNET - a database of gene-disease associations

Charcot-Marie-Tooth disease type 4, C4082197

Variant: rs104894714 ×

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:

rs104894714

PRX

0.700

CausalMutation

CLINVAR

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

15197604

2004

dbSNP:

rs104894714

PRX

0.700

CausalMutation

CLINVAR

Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

11133365

2001