EAF2, ELL associated factor 2, 55840

N. diseases: 35; N. variants: 0
Disease: HEMOCHROMATOSIS, TYPE 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.010 GeneticVariation disease BEFREE Ten of sixteen variants previously associated with iron traits generalized to HCHS/SOL, including variants at the transferrin (TF), hemochromatosis (HFE), fatty acid desaturase 2 (FADS2)/myelin regulatory factor (MYRF), transmembrane protease, serine 6 (TMPRSS6), transferrin receptor (TFR2), N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), ABO blood group (ABO), and GRB2 associated binding protein 3 (GAB3) loci. 28334935 2017