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: rs762124334
rs762124334
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		C 0.700 CausalMutation CLINVAR Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients. 23142039 2012
dbSNP: rs762124334
rs762124334
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		C 0.700 CausalMutation CLINVAR Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations. 19252935 2009
dbSNP: rs762124334
rs762124334
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		CA 0.700 GeneticVariation CLINVAR