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

CausalMutation

CLINVAR

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

9211849

1997

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

9634529

1998

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.

10480349

1999

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.

10521290

1999

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.

10521297

1999

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.

11182931

2000

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

CLINVAR

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

11349231

2001

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.

11479732

2001

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

11349231

2001

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

11333381

2001

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.

11545687

2002

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease.

12408188

2002

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.

12401890

2002

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

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

11754101

2002

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

12955717

2003

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease.

12554680

2003

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.

15774455

2005

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

CLINVAR

Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

16098014

2005

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

16098014

2005

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?

16802107

2006

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

UNIPROT

Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.

16126423

2006

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

CLINVAR

Purified NPC1 protein: II. Localization of sterol binding to a 240-amino acid soluble luminal loop.

17989072

2008

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

CLINVAR

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.

19744920

2010

dbSNP:

rs372947142

NPC1

0.800

GeneticVariation

CLINVAR

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

23453666

2013