Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358254
rs80358254
NPC1
G 0.800 GeneticVariation CLINVAR Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. 11479732

2001
dbSNP: rs80358254
rs80358254
NPC1
0.800 GeneticVariation UNIPROT NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes. 11754101

2002
dbSNP: rs80358254
rs80358254
NPC1
0.800 GeneticVariation UNIPROT Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts. 12401890

2002
dbSNP: rs80358254
rs80358254
NPC1
T 0.800 GeneticVariation CLINVAR Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity. 12205649

2002
dbSNP: rs80358254
rs80358254
NPC1
T 0.800 GeneticVariation CLINVAR 24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy. 19013089

2009
dbSNP: rs80358254
rs80358254
NPC1
G 0.800 GeneticVariation CLINVAR Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity. 12205649

2002
dbSNP: rs80358254
rs80358254
NPC1
A 0.800 GeneticVariation CLINVAR

dbSNP: rs80358254
rs80358254
NPC1
G 0.800 GeneticVariation CLINVAR Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits. 19307542

2009
dbSNP: rs80358254
rs80358254
NPC1
T 0.800 GeneticVariation CLINVAR Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. 11479732

2001
dbSNP: rs80358254
rs80358254
NPC1
0.800 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
dbSNP: rs80358254
rs80358254
NPC1
T 0.800 GeneticVariation CLINVAR The adult form of Niemann-Pick disease type C. 17003072

2007
dbSNP: rs80358254
rs80358254
NPC1
0.800 GeneticVariation UNIPROT Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. 16126423

2006
dbSNP: rs80358254
rs80358254
NPC1
G 0.800 GeneticVariation CLINVAR Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. 16098014

2005
dbSNP: rs80358254
rs80358254
NPC1
0.800 GeneticVariation UNIPROT Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. 11349231

2001
dbSNP: rs80358254
rs80358254
NPC1
G 0.800 GeneticVariation CLINVAR The adult form of Niemann-Pick disease type C. 17003072

2007
dbSNP: rs80358254
rs80358254
NPC1
G 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: rs80358254
rs80358254
NPC1
T 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: rs80358254
rs80358254
NPC1
0.800 GeneticVariation UNIPROT Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. 10521290

1999
dbSNP: rs80358254
rs80358254
NPC1
0.800 GeneticVariation UNIPROT The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. 9634529

1998
dbSNP: rs80358254
rs80358254
NPC1
0.800 GeneticVariation UNIPROT Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. 11479732

2001
dbSNP: rs80358254
rs80358254
NPC1
0.800 GeneticVariation UNIPROT 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: rs80358254
rs80358254
NPC1
G 0.800 GeneticVariation CLINVAR Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C. 19609713

2009
dbSNP: rs80358254
rs80358254
NPC1
0.800 GeneticVariation UNIPROT 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: rs80358254
rs80358254
NPC1
T 0.800 GeneticVariation CLINVAR Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. 16098014

2005
dbSNP: rs80358254
rs80358254
NPC1
0.800 GeneticVariation UNIPROT Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. 11545687

2002