APRT, adenine phosphoribosyltransferase, 353

N. diseases: 370; N. variants: 2
Source: BEFREE ×
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 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: rs752977102
rs752977102
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C0392525
Disease:
Nephrolithiasis 		0.010 GeneticVariation BEFREE We describe a novel APRT mutation (chr16:88877985 G / C; c.195 C>/G; p.His54Asp) presenting with CKD without nephrolithiasis. 30106368 2018
dbSNP: rs752977102
rs752977102
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C0022650
Disease:
Kidney Calculi 		0.010 GeneticVariation BEFREE We describe a novel APRT mutation (chr16:88877985 G / C; c.195 C>/G; p.His54Asp) presenting with CKD without nephrolithiasis. 30106368 2018
dbSNP: rs752977102
rs752977102
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C1561643
Disease:
Chronic Kidney Diseases 		0.010 GeneticVariation BEFREE We describe a novel APRT mutation (chr16:88877985 G / C; c.195 C>/G; p.His54Asp) presenting with CKD without nephrolithiasis. 30106368 2018