ALDOA, aldolase, fructose-bisphosphate A, 226

N. diseases: 61; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.010 GeneticVariation disease BEFREE We identified a deleterious homozygous mutation in the ALDOA gene in 3 siblings with episodic rhabdomyolysis without hemolytic anemia. 25392908 2014