Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358257
rs80358257
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		C 0.800 CausalMutation CLINVAR Niemann-Pick disease type C. 20525256

2010
dbSNP: rs80358257
rs80358257
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		C 0.800 CausalMutation CLINVAR The adult form of Niemann-Pick disease type C. 17003072

2007
dbSNP: rs80358257
rs80358257
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		C 0.800 CausalMutation CLINVAR NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes. 11754101

2002
dbSNP: rs80358257
rs80358257
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		C 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: rs80358257
rs80358257
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		C 0.800 CausalMutation CLINVAR Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. 11349231

2001
dbSNP: rs80358257
rs80358257
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		C 0.800 CausalMutation CLINVAR Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. 11479732

2001
dbSNP: rs80358257
rs80358257
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		C 0.800 CausalMutation CLINVAR Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. 10521290

1999
dbSNP: rs80358257
rs80358257
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		C 0.800 GeneticVariation CLINVAR