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- NCIT_C50953 IAO_0000115 "Human APRT wild-type allele is located within 16q24 and is approximately 2 kb in length. This allele, which encodes adenine phosphoribosyltransferase protein, is involved in an AMP purine salvage reaction that recycles adenine into nucleic acids by formation of AMP from adenine and 5-phosphoribosyl-1-pyrophosphate. Defects in the APRT gene cause APRT deficiency, a disorder also known as 2,8-dihydroxyadenine urolithiasis." @default.
- NCIT_C50953 NCIT_NHC0 "C50953" @default.
- NCIT_C50953 NCIT_P100 "102600" @default.
- NCIT_C50953 NCIT_P102 "NM_000485" @default.
- NCIT_C50953 NCIT_P106 "Gene or Genome" @default.
- NCIT_C50953 NCIT_P108 "APRT wt Allele" @default.
- NCIT_C50953 NCIT_P207 "C1706611" @default.
- NCIT_C50953 NCIT_P321 "353" @default.
- NCIT_C50953 NCIT_P366 "APRT_wt_Allele" @default.
- NCIT_C50953 NCIT_P96 "Adenine Phosphoribosyltransferase" @default.
- NCIT_C50953 NCIT_R130 NCIT_C18611 @default.
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- NCIT_C50953 NCIT_R40 NCIT_C13377 @default.
- NCIT_C50953 NCIT_R40 NCIT_C13432 @default.
- NCIT_C50953 NCIT_R40 NCIT_C13446 @default.
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- NCIT_C50953 NCIT_R40 NCIT_C32221 @default.
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- NCIT_C50953 normalizedInformationContent "100" @default.
- NCIT_C50953 referenceCount "1" @default.
- NCIT_C50953 hasExactSynonym "AMP" @default.
- NCIT_C50953 hasExactSynonym "APRT wt Allele" @default.
- NCIT_C50953 hasExactSynonym "Adenine Phosphoribosyltransferase wt Allele" @default.
- NCIT_C50953 type Class @default.
- NCIT_C50953 isDefinedBy ncit.owl @default.
- NCIT_C50953 label "APRT wt Allele" @default.
- NCIT_C50953 subClassOf NCIT_C16612 @default.
- NCIT_C50953 subClassOf NCIT_C21281 @default.
- NCIT_C50953 subClassOf NCIT_C25870 @default.
- NCIT_C50953 subClassOf NCIT_C26147 @default.
- NCIT_C50953 subClassOf NCIT_C38177 @default.
- NCIT_C50953 subClassOf NCIT_C50953 @default.
- NCIT_C50953 equivalentClass B9ff1f82426b667900a06a11814bb1754 @default.
- NCIT_C50953 equivalentClass Baf552ab3e2e5d284a5cac12ac16ccfda @default.