AGA, aspartylglucosaminidase, 175

N. diseases: 143; N. variants: 55
Disease: Aspartylglucosaminuria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964905
rs121964905
Entrez Id: 175
Gene Symbol: AGA
AGA
CUI: C0268225
Disease:
Aspartylglucosaminuria 		0.800 GeneticVariation UNIPROT Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. 11309371 2001
dbSNP: rs121964905
rs121964905
Entrez Id: 175
Gene Symbol: AGA
AGA
CUI: C0268225
Disease:
Aspartylglucosaminuria 		0.800 GeneticVariation UNIPROT Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation. 9137882 1997
dbSNP: rs121964905
rs121964905
Entrez Id: 175
Gene Symbol: AGA
AGA
CUI: C0268225
Disease:
Aspartylglucosaminuria 		0.800 GeneticVariation UNIPROT Ser72Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation. 8776587 1996
dbSNP: rs121964905
rs121964905
Entrez Id: 175
Gene Symbol: AGA
AGA
CUI: C0268225
Disease:
Aspartylglucosaminuria 		0.800 GeneticVariation UNIPROT Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase. 2011603 1991
dbSNP: rs121964905
rs121964905
Entrez Id: 175
Gene Symbol: AGA
AGA
CUI: C0268225
Disease:
Aspartylglucosaminuria 		0.800 GeneticVariation UNIPROT Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits. 1904874 1991
dbSNP: rs121964905
rs121964905
Entrez Id: 175
Gene Symbol: AGA
AGA
CUI: C0268225
Disease:
Aspartylglucosaminuria 		0.800 GeneticVariation UNIPROT Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. 1703489 1991
dbSNP: rs121964905
rs121964905
Entrez Id: 175
Gene Symbol: AGA
AGA
CUI: C0268225
Disease:
Aspartylglucosaminuria 		T 0.800 CausalMutation CLINVAR