Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
0.030 PosttranslationalModification disease BEFREE We measured the effects of malnutrition and cigarette smoking on proopiomelanocortin (POMC) promoter-specific DNA methylation in female patients with and without anorexia nervosa (AN). 22398003 2012
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
0.030 AlteredExpression disease BEFREE Expression of the functionally relevant long POMC mRNA transcript was significantly correlated with leptin levels and higher in acAN compared to recAN and HCW. 20176366 2010
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
0.030 GeneticVariation disease BEFREE In the present study we systematically screened the coding region of POMC in 96 extremely obese children and adolescents, 60 healthy underweight individuals and 46 patients with anorexia nervosa (AN) and identified several variants. a) A 9 and an 18 base pair insertion (9bp and 18bp: AGC AGC GGC and AGC AGC GGC AGC AGC GGC, respectively, between codon 73 and 74; 1,2). 9768693 1998