Disease: Niemann-Pick Disease, Type C1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		T 0.800 GeneticVariation CLINVAR Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients. 29197565 2018
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		T 0.800 GeneticVariation CLINVAR Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells. 28193631 2017
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		T 0.800 GeneticVariation CLINVAR Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl. 28480683 2017
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		T 0.800 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
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		T 0.800 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
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation UNIPROT Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection. 27238017 2016
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		T 0.800 GeneticVariation CLINVAR Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control. 26108224 2015
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation UNIPROT Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder? 16802107 2006
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation 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
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation UNIPROT Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C. 15774455 2005
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation UNIPROT Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. 16098014 2005
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation UNIPROT 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
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation UNIPROT Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. 12554680 2003
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		T 0.800 CausalMutation CLINVAR Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts. 12401890 2002
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation UNIPROT Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease. 12408188 2002
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation UNIPROT Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts. 12401890 2002
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		T 0.800 GeneticVariation CLINVAR Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts. 12401890 2002
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation UNIPROT Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. 11545687 2002
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation UNIPROT NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes. 11754101 2002
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation UNIPROT Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. 11479732 2001
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation UNIPROT Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. 11349231 2001
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation UNIPROT Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. 11333381 2001
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation UNIPROT 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
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation UNIPROT Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. 10521290 1999
dbSNP: rs768999208
rs768999208
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease:
Niemann-Pick Disease, Type C1 		0.800 GeneticVariation UNIPROT Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype. 10521297 1999