DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Niemann-Pick Disease, Type C1 ×

Variant: rs80358254 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80358254

NPC1

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

Niemann-Pick Disease, Type C1

0.800

CausalMutation

CLINVAR

Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.

26984608

2016

dbSNP:

rs80358254

NPC1

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

Niemann-Pick Disease, Type C1

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

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

Niemann-Pick Disease, Type C1

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

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

Niemann-Pick Disease, Type C1

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

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

Niemann-Pick Disease, Type C1

0.800

GeneticVariation

CLINVAR

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

20718790

2011

dbSNP:

rs80358254

NPC1

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

Niemann-Pick Disease, Type C1

0.800

CausalMutation

CLINVAR

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

20718790

2011

dbSNP:

rs80358254

NPC1

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

Niemann-Pick Disease, Type C1

0.800

GeneticVariation

CLINVAR

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

19307542

2009

dbSNP:

rs80358254

NPC1

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

Niemann-Pick Disease, Type C1

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

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

Niemann-Pick Disease, Type C1

0.800

GeneticVariation

CLINVAR

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

19609713

2009

dbSNP:

rs80358254

NPC1

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

Niemann-Pick Disease, Type C1

0.800

GeneticVariation

CLINVAR

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

19609713

2009

dbSNP:

rs80358254

NPC1

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

Niemann-Pick Disease, Type C1

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

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

Niemann-Pick Disease, Type C1

0.800

GeneticVariation

CLINVAR

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

19307542

2009

dbSNP:

rs80358254

NPC1

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

Niemann-Pick Disease, Type C1

0.800

GeneticVariation

CLINVAR

The adult form of Niemann-Pick disease type C.

17003072

2007

dbSNP:

rs80358254

NPC1

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

Niemann-Pick Disease, Type C1

0.800

GeneticVariation

CLINVAR

The adult form of Niemann-Pick disease type C.

17003072

2007

dbSNP:

rs80358254

NPC1

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

Niemann-Pick Disease, Type C1

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

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

Niemann-Pick Disease, Type C1

0.800

CausalMutation

CLINVAR

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

16778374

2006

dbSNP:

rs80358254

NPC1

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

Niemann-Pick Disease, Type C1

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

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

Niemann-Pick Disease, Type C1

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

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

Niemann-Pick Disease, Type C1

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

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

Niemann-Pick Disease, Type C1

0.800

GeneticVariation

CLINVAR

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

16098014

2005

dbSNP:

rs80358254

NPC1

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

Niemann-Pick Disease, Type C1

0.800

GeneticVariation

CLINVAR

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

16098014

2005

dbSNP:

rs80358254

NPC1

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

Niemann-Pick Disease, Type C1

0.800

GeneticVariation

CLINVAR

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

12205649

2002

dbSNP:

rs80358254

NPC1

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

Niemann-Pick Disease, Type C1

0.800

GeneticVariation

CLINVAR

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

12205649

2002

dbSNP:

rs80358254

NPC1

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

Niemann-Pick Disease, Type C1

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:

rs80358254

NPC1

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

Niemann-Pick Disease, Type C1

0.800

CausalMutation

CLINVAR

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

11545687

2002