Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942108
rs28942108
NPC1
0.800 GeneticVariation UNIPROT Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection. 27238017

2016
dbSNP: rs28942108
rs28942108
NPC1
A 0.800 GeneticVariation CLINVAR Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat. 26984608

2016
dbSNP: rs28942108
rs28942108
NPC1
A 0.800 GeneticVariation CLINVAR GESPA: classifying nsSNPs to predict disease association. 26206375

2015
dbSNP: rs28942108
rs28942108
NPC1
A 0.800 GeneticVariation CLINVAR Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency. 23774949

2014
dbSNP: rs28942108
rs28942108
NPC1
A 0.800 GeneticVariation CLINVAR Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators. 23433426

2013
dbSNP: rs28942108
rs28942108
NPC1
A 0.800 GeneticVariation CLINVAR Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy. 23427322

2013
dbSNP: rs28942108
rs28942108
NPC1
A 0.800 GeneticVariation CLINVAR Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease. 22750297

2012
dbSNP: rs28942108
rs28942108
NPC1
A 0.800 GeneticVariation CLINVAR Molecular analysis of 30 Niemann-Pick type C patients from Spain. 20718790

2011
dbSNP: rs28942108
rs28942108
NPC1
0.800 GeneticVariation UNIPROT 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: rs28942108
rs28942108
NPC1
0.800 GeneticVariation UNIPROT Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder? 16802107

2006
dbSNP: rs28942108
rs28942108
NPC1
0.800 GeneticVariation UNIPROT Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C. 15774455

2005
dbSNP: rs28942108
rs28942108
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: rs28942108
rs28942108
NPC1
A 0.800 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
dbSNP: rs28942108
rs28942108
NPC1
0.800 GeneticVariation UNIPROT 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
dbSNP: rs28942108
rs28942108
NPC1
0.800 GeneticVariation UNIPROT Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. 12554680

2003
dbSNP: rs28942108
rs28942108
NPC1
0.800 GeneticVariation UNIPROT Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. 11545687

2002
dbSNP: rs28942108
rs28942108
NPC1
0.800 GeneticVariation UNIPROT Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease. 12408188

2002
dbSNP: rs28942108
rs28942108
NPC1
0.800 GeneticVariation UNIPROT Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts. 12401890

2002
dbSNP: rs28942108
rs28942108
NPC1
0.800 GeneticVariation UNIPROT NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes. 11754101

2002
dbSNP: rs28942108
rs28942108
NPC1
A 0.800 GeneticVariation CLINVAR Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. 11349231

2001
dbSNP: rs28942108
rs28942108
NPC1
0.800 GeneticVariation UNIPROT Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. 11349231

2001
dbSNP: rs28942108
rs28942108
NPC1
0.800 GeneticVariation UNIPROT 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: rs28942108
rs28942108
NPC1
0.800 GeneticVariation UNIPROT Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. 11479732

2001
dbSNP: rs28942108
rs28942108
NPC1
A 0.800 GeneticVariation CLINVAR Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. 11479732

2001
dbSNP: rs28942108
rs28942108
NPC1
A 0.800 CausalMutation CLINVAR Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. 11479732

2001