DisGeNET - a database of gene-disease associations

Niemann-Pick Disease, Type C1, C3179455

Variant: rs80358254 ×

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:

rs80358254

NPC1

0.800

GeneticVariation

CLINVAR

Molecular analysis of 30 Niemann-Pick type C patients from Spain.

20718790

2011

dbSNP:

rs80358254

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:

rs80358254

NPC1

0.800

GeneticVariation

UNIPROT

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

12554680

2003

dbSNP:

rs80358254

NPC1

0.800

GeneticVariation

UNIPROT

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

9211849

1997

dbSNP:

rs80358254

NPC1

0.800

GeneticVariation

CLINVAR

Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?

24570279

2014

dbSNP:

rs80358254

NPC1

0.800

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

dbSNP:

rs80358254

NPC1

0.800

GeneticVariation

UNIPROT

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

16802107

2006

dbSNP:

rs80358254

NPC1

0.800

GeneticVariation

UNIPROT

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

12408188

2002

dbSNP:

rs80358254

NPC1

0.800

GeneticVariation

CLINVAR

Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy.

23427322

2013

dbSNP:

rs80358254

NPC1

0.800

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

dbSNP:

rs80358254

NPC1

0.800

GeneticVariation

CLINVAR

Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits.

19307542

2009

dbSNP:

rs80358254

NPC1

0.800

GeneticVariation

UNIPROT

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

10480349

1999

dbSNP:

rs80358254

NPC1

0.800

GeneticVariation

CLINVAR

Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C.

19609713

2009

dbSNP:

rs80358254

NPC1

0.800

GeneticVariation

CLINVAR

Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy.

23427322

2013

dbSNP:

rs80358254

NPC1

0.800

GeneticVariation

UNIPROT

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

27238017

2016

dbSNP:

rs80358254

NPC1

0.800

GeneticVariation

UNIPROT

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

15774455

2005

dbSNP:

rs80358254

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:

rs80358254

NPC1

0.800

GeneticVariation

CLINVAR

24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy.

19013089

2009

dbSNP:

rs80358254

NPC1

0.800

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

dbSNP:

rs80358254

NPC1

0.800

CausalMutation

CLINVAR

Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid.

16778374

2006

dbSNP:

rs80358254

NPC1

0.800

CausalMutation

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

dbSNP:

rs80358254

NPC1

0.800

CausalMutation

CLINVAR

Molecular analysis of 30 Niemann-Pick type C patients from Spain.

20718790

2011

dbSNP:

rs80358254

NPC1

0.800

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

dbSNP:

rs80358254

NPC1

0.800

CausalMutation

CLINVAR

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

12401890

2002

dbSNP: