Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity
0.480 Biomarker disease BEFREE This review emphasizes the contribution of NPC1 to obesity and its metabolic complications. 29325023 2018
CUI: C0028754
Disease: Obesity
Obesity
0.480 GeneticVariation disease BEFREE The human Niemann-Pick C1 (NPC1) gene has been found to be associated with extreme (early-onset and morbid-adult) obesity and type 2 diabetes independent of body weight. 23769925 2013
CUI: C0028754
Disease: Obesity
Obesity
0.480 GeneticVariation disease BEFREE In each study, we tested associations of rs4712652 (near-PRL), rs10508503 (near-PTER), rs1424233 (near-MAF) and rs1805081 (NPC1), or proxy variants (r (2)>0.8), with the odds of being overweight and obese, as well as with body mass index (BMI), percentage body fat (%BF) and waist circumference (WC). 22430306 2013
CUI: C0028754
Disease: Obesity
Obesity
0.480 GeneticVariation disease BEFREE We genotyped obesity risk single nucleotide polymorphisms (SNPs) derived from genome-wide association studies in or in proximity to the following genes: NEGR1, TNKS, SDCCAG8, FTO, MC4R, TMEM18, PTER, MTCH2, SH2B1, MAF, NPC1, and KCTD15. 23843577 2013
CUI: C0028754
Disease: Obesity
Obesity
0.480 GeneticVariation disease BEFREE A polymorphism (His215Arg) in NPC1 was associated with obesity in Europeans. 23153210 2012
CUI: C0028754
Disease: Obesity
Obesity
0.480 Biomarker disease BEFREE Therefore, the NPC1 gene now represents a previously unrecognized gene involved in maintaining energy and metabolic homeostasis that will contribute to our understanding concerning the current global epidemic of obesity and type 2 diabetes mellitus. 21036943 2011
CUI: C0028754
Disease: Obesity
Obesity
0.480 GeneticVariation disease BEFREE Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann-Pick disease, type C1 rs1805081, fat mass- and obesity-associated gene rs6499640, melanocortin 4 receptor gene rs17782313, and brain-derived neurotrophic factor rs6265) and obesity risk was only observed in children who had moderate-to-low physical activity levels or engaged in sedentary behavior, regardless of which risk alleles they carried. 21527513 2011
CUI: C0028754
Disease: Obesity
Obesity
0.480 GeneticVariation disease BEFREE In addition to FTO and MC4R, we detected significant association of obesity with three new risk loci in NPC1 (endosomal/lysosomal Niemann-Pick C1 gene, P = 2.9 x 10(-7)), near MAF (encoding the transcription factor c-MAF, P = 3.8 x 10(-13)) and near PTER (phosphotriesterase-related gene, P = 2.1 x 10(-7)). 19151714 2009
CUI: C0028754
Disease: Obesity
Obesity
0.480 GeneticVariation disease GWASCAT In addition to FTO and MC4R, we detected significant association of obesity with three new risk loci in NPC1 (endosomal/lysosomal Niemann-Pick C1 gene, P = 2.9 x 10(-7)), near MAF (encoding the transcription factor c-MAF, P = 3.8 x 10(-13)) and near PTER (phosphotriesterase-related gene, P = 2.1 x 10(-7)). 19151714 2009
CUI: C0028754
Disease: Obesity
Obesity
0.480 Biomarker disease CTD_human In addition to FTO and MC4R, we detected significant association of obesity with three new risk loci in NPC1 (endosomal/lysosomal Niemann-Pick C1 gene, P = 2.9 x 10(-7)), near MAF (encoding the transcription factor c-MAF, P = 3.8 x 10(-13)) and near PTER (phosphotriesterase-related gene, P = 2.1 x 10(-7)). 19151714 2009
CUI: C0028754
Disease: Obesity
Obesity
0.480 GeneticVariation disease GWASDB In addition to FTO and MC4R, we detected significant association of obesity with three new risk loci in NPC1 (endosomal/lysosomal Niemann-Pick C1 gene, P = 2.9 x 10(-7)), near MAF (encoding the transcription factor c-MAF, P = 3.8 x 10(-13)) and near PTER (phosphotriesterase-related gene, P = 2.1 x 10(-7)). 19151714 2009