DBNL, drebrin like, 28988

N. diseases: 30; N. variants: 6
Disease: Glycogen storage disease type X ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268149
Disease: Glycogen storage disease type X
Glycogen storage disease type X 		0.100 CausalMutation disease CLINVAR Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M. 27612597 2016
CUI: C0268149
Disease: Glycogen storage disease type X
Glycogen storage disease type X 		0.100 CausalMutation disease CLINVAR The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. 8447317 1993
CUI: C0268149
Disease: Glycogen storage disease type X
Glycogen storage disease type X 		0.100 GeneticVariation disease CLINVAR