DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Niemann-Pick Disease, Type C1 ×

Gene: NPC1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients.

3378364

1988

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

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

9211849

1997

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.

9211850

1997

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

CausalMutation

CLINVAR

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

9634529

1998

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

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

9634529

1998

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization.

9927649

1999

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

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

10480349

1999

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

CausalMutation

CLINVAR

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

10480349

1999

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

CausalMutation

CLINVAR

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

10521290

1999

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

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

10521290

1999

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

CausalMutation

CLINVAR

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

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

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

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

CausalMutation

CLINVAR

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

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

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

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

CausalMutation

CLINVAR

11333381

2001

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

CausalMutation

CLINVAR

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

11349231

2001

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

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

11349231

2001

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

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

11479732

2001

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

CausalMutation

CLINVAR

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

11479732

2001

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

CausalMutation

CLINVAR

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

11545687

2002

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

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

11545687

2002

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

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

11754101

2002

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

CausalMutation

CLINVAR

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

11754101

2002

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity.

12205649

2002

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

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

12401890

2002