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- NCIT_C190303 IAO_0000115 "Human C1QBP wild-type allele is located in the vicinity of 17p13.2 and is approximately 16 kb in length. This allele, which encodes complement component 1 Q subcomponent-binding protein, mitochondrial protein, plays a role in complement pathway regulation, mitochondrial protein synthesis, ribosome maturation, mRNA splicing, apoptosis and transcriptional regulation. Mutations in the gene are associated with combined oxidative phosphorylation deficiency 33." @default.
- NCIT_C190303 NCIT_NHC0 "C190303" @default.
- NCIT_C190303 NCIT_P100 "601269" @default.
- NCIT_C190303 NCIT_P102 "X75913" @default.
- NCIT_C190303 NCIT_P106 "Gene or Genome" @default.
- NCIT_C190303 NCIT_P108 "C1QBP wt Allele" @default.
- NCIT_C190303 NCIT_P208 "CL1799033" @default.
- NCIT_C190303 NCIT_P321 "708" @default.
- NCIT_C190303 NCIT_R37 NCIT_C17106 @default.
- NCIT_C190303 NCIT_R37 NCIT_C17702 @default.
- NCIT_C190303 NCIT_R37 NCIT_C17710 @default.
- NCIT_C190303 NCIT_R37 NCIT_C17828 @default.
- NCIT_C190303 NCIT_R37 NCIT_C17930 @default.
- NCIT_C190303 NCIT_R37 NCIT_C17937 @default.
- NCIT_C190303 NCIT_R37 NCIT_C18095 @default.
- NCIT_C190303 NCIT_R37 NCIT_C18103 @default.
- NCIT_C190303 NCIT_R37 NCIT_C18839 @default.
- NCIT_C190303 NCIT_R37 NCIT_C18952 @default.
- NCIT_C190303 NCIT_R37 NCIT_C19325 @default.
- NCIT_C190303 NCIT_R37 NCIT_C19536 @default.
- NCIT_C190303 NCIT_R37 NCIT_C20480 @default.
- NCIT_C190303 NCIT_R37 NCIT_C21049 @default.
- NCIT_C190303 NCIT_R37 NCIT_C21050 @default.
- NCIT_C190303 NCIT_R37 NCIT_C21124 @default.
- NCIT_C190303 NCIT_R37 NCIT_C21519 @default.
- NCIT_C190303 NCIT_R37 NCIT_C28498 @default.
- NCIT_C190303 NCIT_R37 NCIT_C41515 @default.
- NCIT_C190303 NCIT_R37 NCIT_C51037 @default.
- NCIT_C190303 NCIT_R40 NCIT_C12219 @default.
- NCIT_C190303 NCIT_R40 NCIT_C13282 @default.
- NCIT_C190303 NCIT_R40 NCIT_C13377 @default.
- NCIT_C190303 NCIT_R40 NCIT_C13432 @default.
- NCIT_C190303 NCIT_R40 NCIT_C13446 @default.
- NCIT_C190303 NCIT_R40 NCIT_C13877 @default.
- NCIT_C190303 NCIT_R40 NCIT_C14135 @default.
- NCIT_C190303 NCIT_R40 NCIT_C32221 @default.
- NCIT_C190303 NCIT_R40 NCIT_C34070 @default.
- NCIT_C190303 NCIT_R41 NCIT_C14182 @default.
- NCIT_C190303 NCIT_R41 NCIT_C14225 @default.
- NCIT_C190303 NCIT_R41 NCIT_C14234 @default.
- NCIT_C190303 NCIT_R41 NCIT_C14250 @default.
- NCIT_C190303 NCIT_R41 NCIT_C14262 @default.
- NCIT_C190303 NCIT_R41 NCIT_C14282 @default.
- NCIT_C190303 NCIT_R41 NCIT_C25796 @default.
- NCIT_C190303 NCIT_R41 NCIT_C79740 @default.
- NCIT_C190303 normalizedInformationContent "100" @default.
- NCIT_C190303 referenceCount "1" @default.
- NCIT_C190303 hasExactSynonym "C1QBP wt Allele" @default.
- NCIT_C190303 hasExactSynonym "C1q Globular Domain-Binding Protein Gene" @default.
- NCIT_C190303 hasExactSynonym "COXPD33" @default.
- NCIT_C190303 hasExactSynonym "Complement C1q Binding Protein wt Allele" @default.
- NCIT_C190303 hasExactSynonym "GC1QBP" @default.
- NCIT_C190303 hasExactSynonym "Globular Domain of C1q, Receptor for Gene" @default.
- NCIT_C190303 hasExactSynonym "HABP1" @default.
- NCIT_C190303 hasExactSynonym "SF2AP32" @default.
- NCIT_C190303 hasExactSynonym "SF2P32" @default.
- NCIT_C190303 hasExactSynonym "SF2p32" @default.
- NCIT_C190303 hasExactSynonym "Splicing Factor SF2-Associated Protein Gene" @default.
- NCIT_C190303 hasExactSynonym "gC1Q-R" @default.
- NCIT_C190303 hasExactSynonym "gC1qR" @default.
- NCIT_C190303 hasExactSynonym "p32" @default.
- NCIT_C190303 type Class @default.
- NCIT_C190303 isDefinedBy ncit.owl @default.
- NCIT_C190303 label "C1QBP wt Allele" @default.
- NCIT_C190303 subClassOf B37b8a3b741e83c88df9faefe856fe7c2 @default.
- NCIT_C190303 subClassOf Bbcea383ea168138d19cab8e40a3ca55a @default.
- NCIT_C190303 subClassOf NCIT_C16612 @default.
- NCIT_C190303 subClassOf NCIT_C190301 @default.
- NCIT_C190303 subClassOf NCIT_C190303 @default.
- NCIT_C190303 subClassOf NCIT_C20194 @default.