DisGeNET - a database of gene-disease associations

Hereditary Motor and Sensory Neuropathy Type I, C0751036

Variant: rs121913584 ×

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:

rs121913584

MPZ

0.700

CausalMutation

CLINVAR

Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation.

25694466

2015

dbSNP:

rs121913584

MPZ

0.700

CausalMutation

CLINVAR

Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.

20571287

2010

dbSNP:

rs121913584

MPZ

0.700

CausalMutation

CLINVAR

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.

7693129

1993