Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C51558> ?p ?o ?g. }
- NCIT_C51558 IAO_0000115 "Human LDLR wild-type allele is located in the vicinity of 19p13.3 and is approximately 44 kb in length. This allele, which encodes low-density lipoprotein receptor protein, is involved in cholesterol biosynthesis. Mutations in the gene result in autosomal dominant disorder, familial hypercholesterolemia." @default.
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- NCIT_C51558 NCIT_P107 "LDLR wt Allele" @default.
- NCIT_C51558 NCIT_P108 "LDLR wt Allele" @default.
- NCIT_C51558 NCIT_P207 "C1706242" @default.
- NCIT_C51558 NCIT_P211 "O-linked glycosylation" @default.
- NCIT_C51558 NCIT_P211 "endocytosis" @default.
- NCIT_C51558 NCIT_P211 "integral to plasma membrane" @default.
- NCIT_C51558 NCIT_P211 "lipid metabolism" @default.
- NCIT_C51558 NCIT_P211 "lipoprotein binding" @default.
- NCIT_C51558 NCIT_P211 "low-density lipoprotein receptor activity" @default.
- NCIT_C51558 NCIT_P211 "plasma membrane" @default.
- NCIT_C51558 NCIT_P211 "signal transducer activity" @default.
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- NCIT_C51558 NCIT_P321 "3949" @default.
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- NCIT_C51558 hasExactSynonym "FH" @default.
- NCIT_C51558 hasExactSynonym "FHC" @default.
- NCIT_C51558 hasExactSynonym "Familial Hypercholesterolemia Gene" @default.
- NCIT_C51558 hasExactSynonym "LDLCQ2" @default.
- NCIT_C51558 hasExactSynonym "LDLR wt Allele" @default.
- NCIT_C51558 hasExactSynonym "LDLR" @default.
- NCIT_C51558 hasExactSynonym "Low Density Lipoprotein Receptor (Familial Hypercholesterolemia) Gene" @default.
- NCIT_C51558 hasExactSynonym "Low Density Lipoprotein Receptor wt Allele" @default.
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- NCIT_C51558 label "LDLR wt Allele" @default.
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