Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.040 Biomarker disease BEFREE The PC-1 gene has been associated with dyslipidemia, polycystic ovarian disease and T2DM in different regions of the world. 31250990 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.040 Biomarker disease BEFREE Further studies are still needed to elucidate whether or not the E-NPP1/PC-1 gene has a functional role in PCOS. 18690303 2008
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.040 GeneticVariation disease BEFREE We hypothesized that insulin receptor substrate-1 (IRS-1) Gly972Arg polymorphism and/or ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Lys121Gln polymorphism predisposes women to PCOS and that these polymorphisms also affect anthropometric variables, glucose metabolism and androgen synthesis. 17719609 2007
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.040 GeneticVariation disease BEFREE The 121Q allele of the plasma cell membrane glycoprotein 1 gene predisposes to polycystic ovary syndrome. 15374726 2004
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.040 GeneticVariation disease LHGDN The 121Q allele of the plasma cell membrane glycoprotein 1 gene predisposes to polycystic ovary syndrome. 15374726 2004