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 Biomarker disease BEFREE Niemann-Pick disease, type C1 (NPC1) is a neurodegenerative condition that arises from mutations of NPC1 and is often diagnosed in children. 31187454 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 Biomarker disease BEFREE Niemann-Pick disease type C1 (NPC1) is a fatal, neurodegenerative, cholesterol storage disorder. 31201291 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 Biomarker disease BEFREE Niemann-Pick disease, type C1 (NPC1) is a fatal, autosomal recessive, neurodegenerative disorder caused by mutations in the NPC1 gene. 31394590 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 Biomarker disease BEFREE Niemann-Pick disease, type C1 (NPC1) is a rare neurodegenerative lysosomal storage disease with a wide spectrum of clinical manifestation. 31668555 2020
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 Biomarker disease BEFREE Niemann-Pick Disease Type C1 (NPC1) is a rare hereditary neurodegenerative disease belonging to the family of lysosomal storage disorders. 31847086 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 Biomarker disease BEFREE A murine model of NPC1 disease (Npc1-/-) displays a rapidly progressing form of NPC1 disease which is characterized by weight loss, ataxia, increased cholesterol storage, loss of cerebellar Purkinje neurons and early lethality. 27798114 2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease CLINVAR A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease. 15459971 2004
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR A yeast model system for functional analysis of the Niemann-Pick type C protein 1 homolog, Ncr1p. 16138904 2005
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 CausalMutation disease CLINVAR Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat. 23791518 2013
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 CausalMutation disease CLINVAR Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study. 14639697 2003
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 Biomarker disease CTD_human Alteration of gene expression profile in Niemann-Pick type C mice correlates with tissue damage and oxidative stress. 22216111 2011
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery. 24506780 2014
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease CLINVAR Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease. 19718781 2009
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease CLINVAR Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 24767253 2014
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C. 27581084 2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		1.000 GeneticVariation disease CLINVAR Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C. 27581084 2016
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 Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease? 24570279 2014