DisGeNET - a database of gene-disease associations

Hereditary Motor and Sensory Neuropathy Type I, C0751036

Variant: rs1553259648 ×

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:

rs1553259648

MPZ

0.700

GeneticVariation

CLINVAR

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

26310628

2015

dbSNP:

rs1553259648

MPZ

0.700

CausalMutation

CLINVAR

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

26310628

2015

dbSNP:

rs1553259648

MPZ

0.700

GeneticVariation

CLINVAR

[Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene].

22433810

2011

dbSNP:

rs1553259648

MPZ

0.700

CausalMutation

CLINVAR

[Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene].

22433810

2011