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- NCIT_C190664 IAO_0000115 "Human PQBP1 wild-type allele is located in the vicinity of Xp11.23 and is approximately 13 kb in length. This allele, which encodes polyglutamine-binding protein 1, plays a role in protein-protein interactions associated with pre-mRNA splicing, transcriptional activation, innate immunity and neuronal development. Mutations in the gene are associated with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability." @default.
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- NCIT_C190664 NCIT_P106 "Gene or Genome" @default.
- NCIT_C190664 NCIT_P108 "PQBP1 wt Allele" @default.
- NCIT_C190664 NCIT_P208 "CL1799086" @default.
- NCIT_C190664 NCIT_P321 "10084" @default.
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- NCIT_C190664 NCIT_R41 NCIT_C25796 @default.
- NCIT_C190664 NCIT_R41 NCIT_C79740 @default.
- NCIT_C190664 normalizedInformationContent "100" @default.
- NCIT_C190664 referenceCount "1" @default.
- NCIT_C190664 hasExactSynonym "MRX2" @default.
- NCIT_C190664 hasExactSynonym "MRX55" @default.
- NCIT_C190664 hasExactSynonym "MRXS3" @default.
- NCIT_C190664 hasExactSynonym "MRXS8" @default.
- NCIT_C190664 hasExactSynonym "Mental Retardation, X-Linked 2 (Non-Dysmorphic) Gene" @default.
- NCIT_C190664 hasExactSynonym "Mental Retardation, X-Linked 55 Gene" @default.
- NCIT_C190664 hasExactSynonym "NPW38" @default.
- NCIT_C190664 hasExactSynonym "Nuclear Protein Containing a WW Domain, 38-kD Gene" @default.
- NCIT_C190664 hasExactSynonym "PQBP1 wt Allele" @default.
- NCIT_C190664 hasExactSynonym "Polyglutamine Binding Protein 1 wt Allele" @default.
- NCIT_C190664 hasExactSynonym "RENS1" @default.
- NCIT_C190664 hasExactSynonym "SHS" @default.
- NCIT_C190664 hasExactSynonym "Sutherland-Haan X-Linked Mental Retardation Syndrome Gene" @default.
- NCIT_C190664 type Class @default.
- NCIT_C190664 isDefinedBy ncit.owl @default.
- NCIT_C190664 label "PQBP1 wt Allele" @default.
- NCIT_C190664 subClassOf NCIT_C16612 @default.
- NCIT_C190664 subClassOf NCIT_C190663 @default.
- NCIT_C190664 subClassOf NCIT_C190664 @default.
- NCIT_C190664 subClassOf NCIT_C21295 @default.
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