SLC25A20, solute carrier family 25 member 20, 788

N. diseases: 130; N. variants: 18
Disease: beta Thalassemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.010 GeneticVariation disease BEFREE We have directly tested whether CAC site point mutations (including two of the beta-thalassemia mutants) affect EKLF transactivation and DNA binding function. 8288615 1994