Disease: Niemann-Pick Disease, Type D ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268247
Disease: Niemann-Pick Disease, Type D
Niemann-Pick Disease, Type D 		0.810 Biomarker disease MGD New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease. 28167839 2017
CUI: C0268247
Disease: Niemann-Pick Disease, Type D
Niemann-Pick Disease, Type D 		0.810 Biomarker disease CTD_human Alteration of gene expression profile in Niemann-Pick type C mice correlates with tissue damage and oxidative stress. 22216111 2011
CUI: C0268247
Disease: Niemann-Pick Disease, Type D
Niemann-Pick Disease, Type D 		0.810 Biomarker disease CTD_human Reduced cholesterol accumulation and improved deficient peroxisomal functions in a murine model of Niemann-Pick type C disease upon treatment with peroxisomal proliferators. 9802331 1998
CUI: C0268247
Disease: Niemann-Pick Disease, Type D
Niemann-Pick Disease, Type D 		0.810 GeneticVariation disease BEFREE The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. 9634529 1998
CUI: C0268247
Disease: Niemann-Pick Disease, Type D
Niemann-Pick Disease, Type D 		0.810 Biomarker disease GENOMICS_ENGLAND
CUI: C0268247
Disease: Niemann-Pick Disease, Type D
Niemann-Pick Disease, Type D 		0.810 CausalMutation disease CLINVAR