Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358260
rs80358260
NPC2 ; ISCA2
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		A 0.700 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: rs80358260
rs80358260
NPC2 ; ISCA2
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		A 0.700 CausalMutation CLINVAR Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators. 23433426

2013
dbSNP: rs80358260
rs80358260
NPC2 ; ISCA2
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		A 0.700 CausalMutation CLINVAR Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. 17470133

2007
dbSNP: rs80358260
rs80358260
NPC2 ; ISCA2
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		A 0.700 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: rs80358260
rs80358260
NPC2 ; ISCA2
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		A 0.700 CausalMutation CLINVAR Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. 11567215

2001
dbSNP: rs80358260
rs80358260
NPC2 ; ISCA2
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		A 0.700 CausalMutation CLINVAR Identification of HE1 as the second gene of Niemann-Pick C disease. 11125141

2000