EBF1, EBF transcription factor 1, 1879

N. diseases: 87; N. variants: 43
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
0.110 GeneticVariation disease GWASCAT A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling. 28630421 2017
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
0.110 GeneticVariation disease BEFREE Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1); P = 2.04 × 10<sup>-7</sup>; OR = 0.7; 95% confidence interval (CI) = 0.61-0.8) with independent replication (P = 0.04), suggesting a variant-mediated dysregulation of leptin signaling may play a role in AN. 28630421 2017