Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358257
rs80358257
NPC1
C 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: rs80358257
rs80358257
NPC1
0.800 GeneticVariation UNIPROT Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection. 27238017

2016
dbSNP: rs80358257
rs80358257
NPC1
C 0.800 CausalMutation CLINVAR Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. 26666848

2015
dbSNP: rs80358257
rs80358257
NPC1
C 0.800 CausalMutation CLINVAR Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years. 25236789

2014
dbSNP: rs80358257
rs80358257
NPC1
C 0.800 CausalMutation CLINVAR Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease. 25349751

2014
dbSNP: rs80358257
rs80358257
NPC1
C 0.800 CausalMutation CLINVAR Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. 25425405

2014
dbSNP: rs80358257
rs80358257
NPC1
C 0.800 CausalMutation CLINVAR Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat. 23791518

2013
dbSNP: rs80358257
rs80358257
NPC1
C 0.800 CausalMutation CLINVAR Teaching video neuroimages: gelastic cataplexy as the first neurologic manifestation of Niemann-Pick disease type C. 23183285

2012
dbSNP: rs80358257
rs80358257
NPC1
C 0.800 CausalMutation CLINVAR Niemann-Pick disease type C. 20525256

2010
dbSNP: rs80358257
rs80358257
NPC1
C 0.800 CausalMutation CLINVAR The adult form of Niemann-Pick disease type C. 17003072

2007
dbSNP: rs80358257
rs80358257
NPC1
C 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: rs80358257
rs80358257
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: rs80358257
rs80358257
NPC1
0.800 GeneticVariation UNIPROT Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder? 16802107

2006
dbSNP: rs80358257
rs80358257
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: rs80358257
rs80358257
NPC1
C 0.800 CausalMutation CLINVAR Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations. 15937921

2005
dbSNP: rs80358257
rs80358257
NPC1
C 0.800 CausalMutation CLINVAR Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. 16098014

2005
dbSNP: rs80358257
rs80358257
NPC1
0.800 GeneticVariation UNIPROT Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C. 15774455

2005
dbSNP: rs80358257
rs80358257
NPC1
C 0.800 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
dbSNP: rs80358257
rs80358257
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: rs80358257
rs80358257
NPC1
C 0.800 CausalMutation CLINVAR Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study. 14639697

2003
dbSNP: rs80358257
rs80358257
NPC1
0.800 GeneticVariation UNIPROT Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. 12554680

2003
dbSNP: rs80358257
rs80358257
NPC1
0.800 GeneticVariation UNIPROT Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. 11545687

2002
dbSNP: rs80358257
rs80358257
NPC1
C 0.800 CausalMutation CLINVAR NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes. 11754101

2002
dbSNP: rs80358257
rs80358257
NPC1
C 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: rs80358257
rs80358257
NPC1
0.800 GeneticVariation UNIPROT NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes. 11754101

2002