Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 175
Gene Symbol: AGA
AGA
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		1.000 GermlineCausalMutation ORPHANET Here we use the three-dimensional structure of AGA to predict structural consequences of AGU mutations, including six novel mutations, and make an effort to characterize every known disease mutation by dissecting the effect of mutations on intracellular stability, maturation, transport and the activity of AGA. 11309371

2001