Gene: NPC1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease CLINVAR Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control. 26108224 2015
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease CLINVAR Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease. 27139891 2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease CLINVAR Early miglustat therapy in infantile Niemann-Pick disease type C. 22704015 2012
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
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease CLINVAR Ryanodine receptor antagonists adapt NPC1 proteostasis to ameliorate lipid storage in Niemann-Pick type C disease fibroblasts. 22505584 2012
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease UNIPROT Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts. 12401890 2002
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease CLINVAR Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report. 23146215 2012
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 GeneticVariation disease CLINVAR Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat. 26984608 2016
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 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 UNIPROT 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 BEFREE In this study, we found that AST induced cholesterol accumulation in the lysosome by binding to the sterol-sensing domain of Niemann-Pick disease, type C1 (NPC1), a lysosomal surface protein responsible for cholesterol transport. 30123067 2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease CLINVAR Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage. 21245028 2011
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease CLINVAR Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity. 28130309 2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease CLINVAR Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl. 28480683 2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease 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
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease CLINVAR The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. 19744920 2010
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease CLINVAR The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations. 25131710 2014
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease UNIPROT Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. 11545687 2002
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 GeneticVariation disease CLINVAR Atypical multisensory integration in Niemann-Pick type C disease - towards potential biomarkers. 25239094 2014
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease CLINVAR Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection. 27238017 2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease CLINVAR Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. 16098014 2005
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease CLINVAR The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear. 24001525 2013