Gene: NPC1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358259
rs80358259
NPC1
G 0.830 CausalMutation CLINVAR Toward this goal, we have generated an induced pluripotent stem cell line from a subject homozygous for the most frequent NPC1 mutation (p.I1061T) and subsequently created a stable line of neural stem cells (NSCs). 25637190

2015
dbSNP: rs80358259
rs80358259
NPC1
G 0.830 CausalMutation CLINVAR Compared with the Npc1(-/-) mouse, this Npc1(tm(I1061T)Dso) model displays a less severe, delayed form of NPC1 disease with respect to weight loss, decreased motor coordination, Purkinje cell death, lipid storage, and premature death. 26019327

2015
dbSNP: rs80358259
rs80358259
NPC1
G 0.830 CausalMutation CLINVAR Cerebellar ataxia, vertical supranuclear gaze palsy, sensorineural deafness, epilepsy, dementia, and hallucinations in an adolescent male. 25149939

2014
dbSNP: rs80358259
rs80358259
NPC1
G 0.830 CausalMutation CLINVAR The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. 19744920

2010
dbSNP: rs80358259
rs80358259
NPC1
G 0.830 CausalMutation CLINVAR Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance. 20521171

2010
dbSNP: rs80358259
rs80358259
NPC1
G 0.830 CausalMutation CLINVAR Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding. 18216017

2008
dbSNP: rs80358259
rs80358259
NPC1
G 0.830 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: rs80358259
rs80358259
NPC1
G 0.830 CausalMutation CLINVAR Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. 16098014

2005
dbSNP: rs80358259
rs80358259
NPC1
G 0.830 CausalMutation CLINVAR NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. 10480349

1999
dbSNP: rs80358259
rs80358259
NPC1
G 0.830 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
dbSNP: rs150334966
rs150334966
NPC1
A 0.800 GeneticVariation CLINVAR Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report. 30119649

2018
dbSNP: rs768999208
rs768999208
NPC1
T 0.800 GeneticVariation CLINVAR Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients. 29197565

2018
dbSNP: rs1555634422
rs1555634422
NPC1
A 0.800 GeneticVariation CLINVAR Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity. 28130309

2017
dbSNP: rs768999208
rs768999208
NPC1
T 0.800 GeneticVariation CLINVAR Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure. 28802248

2017
dbSNP: rs768999208
rs768999208
NPC1
T 0.800 GeneticVariation CLINVAR Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl. 28480683

2017
dbSNP: rs768999208
rs768999208
NPC1
T 0.800 GeneticVariation CLINVAR Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells. 28193631

2017
dbSNP: rs120074135
rs120074135
NPC1
T 0.800 GeneticVariation CLINVAR Genome sequencing in a case of Niemann-Pick type C. 27900365

2016
dbSNP: rs120074135
rs120074135
NPC1
T 0.800 GeneticVariation CLINVAR Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat. 26984608

2016
dbSNP: rs139751448
rs139751448
NPC1
T 0.800 CausalMutation CLINVAR Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening. 26981555

2016
dbSNP: rs139751448
rs139751448
NPC1
T 0.800 CausalMutation CLINVAR Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease. 27139891

2016
dbSNP: rs139751448
rs139751448
NPC1
T 0.800 CausalMutation CLINVAR Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C. 27581084

2016
dbSNP: rs1555631998
rs1555631998
NPC1
T 0.800 GeneticVariation CLINVAR Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection. 27238017

2016
dbSNP: rs1555634422
rs1555634422
NPC1
A 0.800 GeneticVariation CLINVAR Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection. 27238017

2016
dbSNP: rs1555634422
rs1555634422
NPC1
A 0.800 GeneticVariation CLINVAR Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease. 27139891

2016
dbSNP: rs28942105
rs28942105
NPC1
C 0.800 GeneticVariation CLINVAR Genome sequencing in a case of Niemann-Pick type C. 27900365

2016