×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
GeneticVariation
disease
CLINVAR
Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients.
3378364
1988
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
GeneticVariation
disease
CLINVAR
Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.
9211850
1997
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
GeneticVariation
disease
CLINVAR
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
9211849
1997
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
Biomarker
disease
GENOMICS_ENGLAND
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
9211849
1997
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
GeneticVariation
disease
UNIPROT
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
9211849
1997
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
Biomarker
disease
GENOMICS_ENGLAND
Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C.
9245994
1997
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
CausalMutation
disease
CLINVAR
The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.
9634529
1998
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
Biomarker
disease
CTD_human
Reduced cholesterol accumulation and improved deficient peroxisomal functions in a murine model of Niemann-Pick type C disease upon treatment with peroxisomal proliferators.
9802331
1998
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
GeneticVariation
disease
UNIPROT
The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.
9634529
1998
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
GeneticVariation
disease
CLINVAR
The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.
9634529
1998
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
GeneticVariation
disease
CLINVAR
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
10480349
1999
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
GeneticVariation
disease
UNIPROT
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
10480349
1999
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
CausalMutation
disease
CLINVAR
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
10480349
1999
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
GeneticVariation
disease
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
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
GeneticVariation
disease
UNIPROT
Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.
10521290
1999
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
CausalMutation
disease
CLINVAR
Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.
10521290
1999
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
CausalMutation
disease
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
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
GeneticVariation
disease
CLINVAR
Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization.
9927649
1999
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
GeneticVariation
disease
CLINVAR
Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.
10521290
1999
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
GeneticVariation
disease
CLINVAR
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
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
CausalMutation
disease
CLINVAR
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
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
Biomarker
disease
BEFREE
Previous studies employing rabbit polyclonal anti-human liver ferritin have shown an absence of L ferritin immunoreactivity in liver and spleen tissue from patients with Niemann-Pick disease type C1 (NPC1 ).
10924274
2000
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
GeneticVariation
disease
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
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
Biomarker
disease
BEFREE
Niemann-Pick type C1 (NPC1 ) disease is caused by defects in the NPC1 protein, which result in perturbation of subcellular cholesterol transport.
10783261
2000
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
1.000
GeneticVariation
disease
CLINVAR
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
11479732
2001