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: rs192195150
rs192195150
Entrez Id: 175
Gene Symbol: AGA
AGA
CUI: C0268225
Disease:
Aspartylglucosaminuria 		0.700 GeneticVariation UNIPROT Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. 11309371 2001
dbSNP: rs192195150
rs192195150
Entrez Id: 175
Gene Symbol: AGA
AGA
CUI: C0268225
Disease:
Aspartylglucosaminuria 		0.700 GeneticVariation UNIPROT Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation. 9137882 1997
dbSNP: rs192195150
rs192195150
Entrez Id: 175
Gene Symbol: AGA
AGA
CUI: C0268225
Disease:
Aspartylglucosaminuria 		0.700 GeneticVariation UNIPROT Ser72Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation. 8776587 1996
dbSNP: rs192195150
rs192195150
Entrez Id: 175
Gene Symbol: AGA
AGA
CUI: C0268225
Disease:
Aspartylglucosaminuria 		0.700 GeneticVariation UNIPROT Two base changes were found to be common to all three Finnish AGU patients, a G482----A transition that results in an Arg161----Gln substitution and a G488----C transversion that causes Cys163----Ser. 1904874 1991
dbSNP: rs192195150
rs192195150
Entrez Id: 175
Gene Symbol: AGA
AGA
CUI: C0268225
Disease:
Aspartylglucosaminuria 		0.700 GeneticVariation UNIPROT Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase. 2011603 1991
dbSNP: rs192195150
rs192195150
Entrez Id: 175
Gene Symbol: AGA
AGA
CUI: C0268225
Disease:
Aspartylglucosaminuria 		0.700 GeneticVariation UNIPROT Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. 1703489 1991