Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs372947142
rs372947142
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells. 27378690

2016
dbSNP: rs372947142
rs372947142
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease. 27139891

2016
dbSNP: rs372947142
rs372947142
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation 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: rs372947142
rs372947142
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. 23453666

2013
dbSNP: rs372947142
rs372947142
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. 19744920

2010
dbSNP: rs372947142
rs372947142
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Purified NPC1 protein: II. Localization of sterol binding to a 240-amino acid soluble luminal loop. 17989072

2008
dbSNP: rs372947142
rs372947142
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. 16098014

2005
dbSNP: rs372947142
rs372947142
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		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: rs372947142
rs372947142
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		A 0.800 CausalMutation CLINVAR