Disease: Anemia, Hemolytic, Congenital ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Anemia, Hemolytic, Congenital
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
0.010 GeneticVariation BEFREE WES unexpectedly identified gene mutations known to cause congenital hemolytic anemia in two patients: canonical G6PD p.Val394Leu mutation and SPTA1 p.Arg28His mutation. 29936674 2018