DisGeNET - a database of gene-disease associations

Niemann-Pick Disease, Type C, C0220756

Variant: rs377130051 ×

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:

rs377130051

NPC1

0.700

CausalMutation

CLINVAR

Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.

23430855

2012

dbSNP:

rs377130051

NPC1

0.700

CausalMutation

CLINVAR

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.

19252935

2009

dbSNP:

rs377130051

NPC1

0.700

CausalMutation

CLINVAR

NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.

11754101

2002