DisGeNET - a database of gene-disease associations

Source: CLINVAR

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

CausalMutation

CLINVAR

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

12401890

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

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

12408188

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

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

12408188

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 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols.

12719428

2003

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

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

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

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

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

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

Niemann-Pick Disease, Type C1

1.000

CausalMutation

CLINVAR

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

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 type C.

12974729

2003

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

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

Niemann-Pick Disease, Type C1

1.000

CausalMutation

CLINVAR

Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study.

14639697

2003

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

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

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients.

15130691

2004

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

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

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

Targeting of NPC1 to late endosomes involves multiple signals, including one residing within the putative sterol-sensing domain.

15347664

2004

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

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

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.

15459971

2004

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 NPC1 protein: structure implies function.

15465421

2004

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

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

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

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

15774455

2005

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

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

Niemann-Pick Disease, Type C1

1.000

CausalMutation

CLINVAR

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

15774455

2005

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: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.

15937921

2005

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

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

Niemann-Pick Disease, Type C1

1.000

CausalMutation

CLINVAR

Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage.

16086131

2005

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

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

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

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

16098014

2005

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

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

Niemann-Pick Disease, Type C1

1.000

CausalMutation

CLINVAR

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

16098014

2005

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 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

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 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

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

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

Niemann-Pick Disease, Type C1

1.000

GeneticVariation

CLINVAR

A yeast model system for functional analysis of the Niemann-Pick type C protein 1 homolog, Ncr1p.

16138904

2005

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 disease type C: cataplexy and hypocretin in cerebrospinal fluid.

16778374

2006

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 adult form of Niemann-Pick disease type C.

17003072

2007

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 adult form of Niemann-Pick disease type C.

17003072

2007

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 natural history of Niemann-Pick disease type C in the UK.

17160617

2007