Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE PCSK1 rs6232 is associated with childhood and adult class III obesity in the Mexican population. 22737226 2012
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE Furthermore, the contribution of two common nonsynonymous variants in PCSK1 to polygenic obesity risk has recently been established. 21805247 2011
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease BEFREE Two loci (LARP6 and SGSM2) have not been previously related to metabolic traits, one (MADD) has been associated with fasting glucose, one (PCSK1) has been implicated in obesity, and four (TCF7L2, SLC30A8, VPS13C/C2CD4A/B, and ARAP1, formerly CENTD2) increase T2D risk. 21873549 2011
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE A total of 1,001 white individuals with extreme obesity (BMI >35 kg/m(2)) who underwent a preoperative diet/behavioral weight loss intervention and Roux-en-Y gastric bypass surgery were genotyped for single-nucleotide polymorphisms (SNPs) in or near the fat mass and obesity-associated (FTO), insulin induced gene 2 (INSIG2), melanocortin 4 receptor (MC4R), and proprotein convertase subtilisin/kexin type 1 (PCSK1) obesity genes. 21311511 2011
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE The results from the present study have indicated that ENPP1/PC1 Q121 variant may increase the risk of obesity and that more well-designed studies based on a larger population will be required to further evaluate the role of ENPP1/PC1 gene K121Q polymorphism in obesity and other related metabolic syndromes. 21565692 2011
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE These data indicate common PCSK1 genetic variants are associated with obesity in the Chinese population. 19875984 2010
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE In this study, we found modest evidence for association of the PCSK1 rs6234 with BMI and overweight in men only but not in women, which suggested that PCSK1 rs6234 might not be an important contributor to obesity in Chinese Hans. 20498726 2010
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion. 20534142 2010
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE In conclusion, our data suggest that the PCSK1 rs6232 and rs6235 SNPs are not major contributors to common obesity in the general population. 19528091 2009
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease CTD_human To assess the contribution of PCSK1 to polygenic obesity risk, we genotyped tag SNPs in a total of 13,659 individuals of European ancestry from eight independent case-control or family-based cohorts. 18604207 2008
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE Common nonsynonymous variants in PCSK1 confer risk of obesity. 18604207 2008
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3. 17595246 2007
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE HH occurs in DAX1 mutations when associated with adrenal insufficiency (adrenal hypoplasia congenita), and is also linked with obesity in patients with mutations of leptin and its receptor, as well as mutations in prohormone convertase 1. 17191030 2007
CUI: C0028754
Disease: Obesity
Obesity
0.700 AlteredExpression disease BEFREE The obesity is associated with impaired autocatalytic activation of mature PC1 and reduced hypothalamic alpha-MSH. 16644867 2006
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE The purpose of this study was to determine whether K121Q polymorphism in PC-1 gene is involved in obesity susceptibility in Chinese Han population. 17026496 2006
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease MGD The obesity is associated with impaired autocatalytic activation of mature PC1 and reduced hypothalamic alpha-MSH. 16644867 2006
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE Genes currently recognized to be involved include KAL-1 (associated with X-linked Kallmann Syndrome), gonadotropin-releasing hormone (GnRH) receptor, gonadotropins, pituitary transcription factors (HESX1, LHX3, and PROP-1), orphan nuclear receptors (DAX-1, associated with X-linked adrenal hypoplasia congenital, and SF-1), and three genes also associated with obesity (leptin, leptin receptor, and prohormone convertase 1 [ PC1]). 12536356 2002
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE We investigated whether the PC-1 gene modulates insulin sensitivity independently of weight status (i.e. both in nonobese and obese individuals). 11739459 2001
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. 9207799 1997
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease HPO