Disease: Niemann-Pick Disease, Type C1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886042270
rs886042270
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		G 0.700 GeneticVariation CLINVAR Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods. 29100954 2018
dbSNP: rs886042270
rs886042270
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		G 0.700 GeneticVariation CLINVAR New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease. 28167839 2017
dbSNP: rs886042270
rs886042270
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		G 0.700 GeneticVariation CLINVAR Early experience with compassionate use of 2 hydroxypropyl-beta-cyclodextrin for Niemann-Pick type C disease: review of initial published cases. 28155026 2017
dbSNP: rs886042270
rs886042270
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		G 0.700 CausalMutation CLINVAR