AMPD2, adenosine monophosphate deaminase 2, 271

N. diseases: 60; N. variants: 10
Disease: Glycogen Storage Disease Type V ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs567798234
rs567798234
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0017924
Disease:
Glycogen Storage Disease Type V 		0.010 GeneticVariation BEFREE In summary, heterozigosity for the C34T allele of the AMPD gene is associated with reduced submaximal aerobic capacity in female patients with McArdle disease and might partly account, in this gender, for the variability that exists in the phenotypic manifestation of the disease. 17687759 2008