rs80358259, NPC1

N. diseases: 9
Disease: Niemann-Pick Disease, Type C1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Niemann-Pick Disease, Type C1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
0.830 GeneticVariation UNIPROT Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts. 11182931 2000
Niemann-Pick Disease, Type C1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
0.830 GeneticVariation UNIPROT Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. 10521290 1999
Niemann-Pick Disease, Type C1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
0.830 GeneticVariation UNIPROT Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype. 10521297 1999
Niemann-Pick Disease, Type C1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
0.830 CausalMutation CLINVAR Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype. 10521297 1999
Niemann-Pick Disease, Type C1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
0.830 CausalMutation CLINVAR NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. 10480349 1999
Niemann-Pick Disease, Type C1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
0.830 GeneticVariation UNIPROT NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. 10480349 1999
Niemann-Pick Disease, Type C1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
0.830 GeneticVariation UNIPROT The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. 9634529 1998
Niemann-Pick Disease, Type C1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
0.830 GeneticVariation UNIPROT Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. 9211849 1997