PGM1, phosphoglucomutase 1, 5236

N. diseases: 72; N. variants: 35
Disease: Glycogen Storage Disease Type V ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		0.010 AlteredExpression disease BEFREE We show that severe loss of PGM1 activity causes blocked muscle glycogenolysis that mimics McArdle disease, but may also limit glycogen synthesis, which broadens the phenotypic spectrum of this disorder. 28882528 2017