APRT, adenine phosphoribosyltransferase, 353

N. diseases: 384; N. variants: 12
Disease: Adenine phosphoribosyltransferase deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28999113
rs28999113
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C0268120
Disease:
Adenine phosphoribosyltransferase deficiency 		0.810 GeneticVariation UNIPROT A genetic analysis revealed a compound heterozygous state for M136T and a novel missense mutation L33P, not previously reported in patients with APRT deficiency. 21635362 2011
dbSNP: rs28999113
rs28999113
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C0268120
Disease:
Adenine phosphoribosyltransferase deficiency 		0.810 GeneticVariation BEFREE A genetic analysis revealed a compound heterozygous state for M136T and a novel missense mutation L33P, not previously reported in patients with APRT deficiency. 21635362 2011
dbSNP: rs28999113
rs28999113
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C0268120
Disease:
Adenine phosphoribosyltransferase deficiency 		0.810 GeneticVariation UNIPROT Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis. 15571218 2004
dbSNP: rs28999113
rs28999113
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C0268120
Disease:
Adenine phosphoribosyltransferase deficiency 		0.810 GeneticVariation UNIPROT 2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT. 11243733 2001
dbSNP: rs28999113
rs28999113
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C0268120
Disease:
Adenine phosphoribosyltransferase deficiency 		0.810 GeneticVariation UNIPROT Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. 7915931 1994
dbSNP: rs28999113
rs28999113
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C0268120
Disease:
Adenine phosphoribosyltransferase deficiency 		0.810 GeneticVariation UNIPROT Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. 1353080 1992
dbSNP: rs28999113
rs28999113
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C0268120
Disease:
Adenine phosphoribosyltransferase deficiency 		0.810 GeneticVariation UNIPROT Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. 1746557 1991
dbSNP: rs28999113
rs28999113
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C0268120
Disease:
Adenine phosphoribosyltransferase deficiency 		0.810 GeneticVariation UNIPROT Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese. 3343350 1988
dbSNP: rs28999113
rs28999113
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C0268120
Disease:
Adenine phosphoribosyltransferase deficiency 		0.810 GeneticVariation UNIPROT Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme. 3680503 1987
dbSNP: rs28999113
rs28999113
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C0268120
Disease:
Adenine phosphoribosyltransferase deficiency 		G 0.810 CausalMutation CLINVAR