Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report. 30119649

2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients. 29197565

2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods. 29100954

2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 CausalMutation CLINVAR Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study. 28222799

2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 CausalMutation CLINVAR Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity. 28130309

2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity. 28130309

2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation 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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells. 28193631

2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Early experience with compassionate use of 2 hydroxypropyl-beta-cyclodextrin for Niemann-Pick type C disease: review of initial published cases. 28155026

2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 27959697

2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease. 28167839

2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure. 28802248

2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation 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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 CausalMutation 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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation 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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 CausalMutation CLINVAR Reduced Myelin Water in the White Matter Tracts of Patients with Niemann-Pick Disease Type C. 26939636

2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection. 27238017

2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells. 27378690

2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR "Facial Dystonia with Facial Grimacing and Vertical Gaze Palsy with ""Round the Houses"" Sign in a 29-Year-Old Woman." 27928380

2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 CausalMutation CLINVAR Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening. 26981555

2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea. 27366019

2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. 25764212

2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 CausalMutation CLINVAR Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C. 27581084

2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family. 27549128

2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C. 27581084

2016