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: rs372030650
rs372030650
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		A 0.800 CausalMutation CLINVAR Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C. 27193329 2016
dbSNP: rs372030650
rs372030650
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		A 0.800 CausalMutation CLINVAR Reduced Myelin Water in the White Matter Tracts of Patients with Niemann-Pick Disease Type C. 26939636 2016
dbSNP: rs372030650
rs372030650
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		A 0.800 CausalMutation 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: rs372030650
rs372030650
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		A 0.800 CausalMutation CLINVAR Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. 23773996 2013
dbSNP: rs372030650
rs372030650
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		A 0.800 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: rs372030650
rs372030650
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease. 12408188 2002
dbSNP: rs372030650
rs372030650
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		A 0.800 CausalMutation CLINVAR Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease. 12408188 2002
dbSNP: rs372030650
rs372030650
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		A 0.800 CausalMutation CLINVAR NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes. 11754101 2002
dbSNP: rs372030650
rs372030650
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes. 11754101 2002
dbSNP: rs372030650
rs372030650
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		A 0.800 CausalMutation CLINVAR Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. 11349231 2001
dbSNP: rs372030650
rs372030650
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
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: rs372030650
rs372030650
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		A 0.800 GeneticVariation CLINVAR Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. 11333381 2001
dbSNP: rs372030650
rs372030650
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation UNIPROT