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 CausalMutation CLINVAR Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C. 27193329

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 A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions. 27706244

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 [Blood 7-ketocholesterol level, clinical features and gene mutation analysis of 18 children with Niemann-Pick disease type C]. 27256227

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 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 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 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 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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. 26666848

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 NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening. 26338816

2015
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 CausalMutation CLINVAR Rescue of an in vitro neuron phenotype identified in Niemann-Pick disease, type C1 induced pluripotent stem cell-derived neurons by modulating the WNT pathway and calcium signaling. 25637190

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 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 A rare case of Niemann-Pick disease type C without neurological involvement in a 66-year-old patient. 26937389

2015
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 CausalMutation CLINVAR Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. 26666848

2015
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 CausalMutation CLINVAR A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele. 26019327

2015
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 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
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation CLINVAR Atypical multisensory integration in Niemann-Pick type C disease - towards potential biomarkers. 25239094

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 and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease. 25349751

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 Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years. 25236789

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 Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years. 25236789

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 CausalMutation CLINVAR Niemann-Pick disease type C: a case series of Brazilian patients. 24676439

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 GeneticVariation CLINVAR Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery. 24506780

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 Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease. 25349751

2014