Decreased affinity of GATA1 for FOG1 has been shown to be caused by the pathogenic missense variants V205M, G208S, and D218G/Y, which are associated with variable dyserythropoiesis (with or without anemia), dysplastic megakaryocytes, and macrothrombocytopenia (OMIM: 300367; 300835). The gene discussed is GATA1; the disease is anemia (phenotype).