Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C52353> ?p ?o ?g. }
- NCIT_C52353 IAO_0000115 "Human CYP27B1 wild-type allele is located within 12q13.1-q13.3 and is approximately 5 kb in length. This allele, which encodes 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial protein, is involved in the biosynthesis of the active form of vitamin D3. Many allelic variants of the CYP27B1 gene encode proteins that are either inactive or exhibit reduced catalytic activity which, in turn, results in vitamin D-dependent rickets type I." @default.
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- NCIT_C52353 NCIT_P366 "CYP27B1_wt_Allele" @default.
- NCIT_C52353 NCIT_P96 "Cytochrome P450 27B1" @default.
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- NCIT_C52353 normalizedInformationContent "100" @default.
- NCIT_C52353 referenceCount "1" @default.
- NCIT_C52353 hasExactSynonym "CP2B" @default.
- NCIT_C52353 hasExactSynonym "CYP1" @default.
- NCIT_C52353 hasExactSynonym "CYP1ALPHA" @default.
- NCIT_C52353 hasExactSynonym "CYP27B" @default.
- NCIT_C52353 hasExactSynonym "CYP27B1 wt Allele" @default.
- NCIT_C52353 hasExactSynonym "Cytochrome P450 Family 27 Subfamily B Member 1 wt Allele" @default.
- NCIT_C52353 hasExactSynonym "Cytochrome P450 Subfamily XXVIIB (25-Hydroxyvitamin D-1-Alpha-Hydroxylase) Polypeptide 1 Gene" @default.
- NCIT_C52353 hasExactSynonym "Cytochrome P450, Family 27, Subfamily B, Polypeptide 1 Gene" @default.
- NCIT_C52353 hasExactSynonym "Cytochrome P450, Subfamily XXVIIB, Polypeptide 1 Gene" @default.
- NCIT_C52353 hasExactSynonym "P450c1" @default.
- NCIT_C52353 hasExactSynonym "PDDR" @default.
- NCIT_C52353 hasExactSynonym "VDD1" @default.
- NCIT_C52353 hasExactSynonym "VDDR I" @default.
- NCIT_C52353 hasExactSynonym "VDDR" @default.
- NCIT_C52353 hasExactSynonym "VDDRI" @default.
- NCIT_C52353 hasExactSynonym "VDR" @default.
- NCIT_C52353 inSubset NCIT_C116977 @default.
- NCIT_C52353 inSubset NCIT_C142799 @default.
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- NCIT_C52353 type Class @default.
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- NCIT_C52353 label "CYP27B1 wt Allele" @default.
- NCIT_C52353 subClassOf NCIT_C16612 @default.