DisGeNET - a database of gene-disease associations

Niemann-Pick Disease, Type C1, C3179455

Variant: rs372947142 ×

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:

rs372947142

NPC1

0.800

GeneticVariation

CLINVAR

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.

26666848

2015

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.

27238017

2016

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

CLINVAR

Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.

27378690

2016

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

CLINVAR

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.

27139891

2016