DisGeNET - a database of gene-disease associations

Hereditary Motor and Sensory Neuropathy Type I, C0751036

Variant: rs121913585 ×

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:

rs121913585

MPZ

0.700

CausalMutation

CLINVAR

P0 (protein zero) mutation S34C underlies instability of internodal myelin in S63C mice.

20937820

2010

dbSNP:

rs121913585

MPZ

0.700

CausalMutation

CLINVAR

Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice.

16495463

2006

dbSNP:

rs121913585

MPZ

0.700

CausalMutation

CLINVAR

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).

7506095

1993