Source: INFERRED

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 CausalMutation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 CausalMutation CLINVAR Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. 11545687

2002
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. 11545687

2002
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 CausalMutation CLINVAR Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients. 24915861

2014
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients. 24915861

2014
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 CausalMutation CLINVAR Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. 25425405

2014
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 co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. 25425405

2014
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 Early miglustat therapy in infantile Niemann-Pick disease type C. 22704015

2012
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C. 19609713

2009
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 CausalMutation CLINVAR Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. 23773996

2013
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Genome sequencing in a case of Niemann-Pick type C. 27900365

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 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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 CausalMutation 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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C. 22326530

2012
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 CausalMutation CLINVAR Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C. 22326530

2012
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR GESPA: classifying nsSNPs to predict disease association. 26206375

2015
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 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 Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1. 23653225

2014
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 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. 16098014

2005
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 CausalMutation 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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR 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
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 CausalMutation CLINVAR 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
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