Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942105
rs28942105
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		C 0.800 GeneticVariation CLINVAR Genome sequencing in a case of Niemann-Pick type C. 27900365

2016
dbSNP: rs28942105
rs28942105
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		C 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: rs28942105
rs28942105
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		C 0.800 GeneticVariation CLINVAR Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking. 23430855

2012
dbSNP: rs28942105
rs28942105
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		C 0.800 GeneticVariation CLINVAR The natural history of Niemann-Pick disease type C in the UK. 17160617

2007
dbSNP: rs28942105
rs28942105
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		C 0.800 GeneticVariation CLINVAR Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. 16098014

2005
dbSNP: rs28942105
rs28942105
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		C 0.800 GeneticVariation CLINVAR Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. 9211849

1997
dbSNP: rs28942105
rs28942105
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		C 0.800 CausalMutation CLINVAR