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- NCIT_C163039 IAO_0000115 "Human ASPH wild-type allele is located in the vicinity of 8q12.3 and is approximately 214 kb in length. This allele, which encodes aspartyl/asparaginyl beta-hydroxylase, junctin-1, junctin-2 and junctate proteins, plays a role in amino acid hydroxylation and calcium ion sensing. Mutation of the gene is associated with facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB or Traboulsi syndrome)." @default.
- NCIT_C163039 NCIT_NHC0 "C163039" @default.
- NCIT_C163039 NCIT_P100 "600582" @default.
- NCIT_C163039 NCIT_P102 "AF224468" @default.
- NCIT_C163039 NCIT_P106 "Gene or Genome" @default.
- NCIT_C163039 NCIT_P107 "ASPH wt Allele" @default.
- NCIT_C163039 NCIT_P108 "ASPH wt Allele" @default.
- NCIT_C163039 NCIT_P208 "CL976719" @default.
- NCIT_C163039 NCIT_P321 "444" @default.
- NCIT_C163039 NCIT_P322 "CTRP" @default.
- NCIT_C163039 NCIT_P98 "Aberrant high expression of the largest transcript, which encodes aspartyl/asparaginyl beta-hydroxylase, is associated with hepatocellular carcinoma and colangiocarcinoma. (OMIM)" @default.
- NCIT_C163039 NCIT_P98 "Expression of the ASPH gene is modulated by two promoters and the transcript undergoes extensive alternative splicing, which yields a set of proteins with distinct functional properties because they share varying amounts of overlap near their N-termini but vary in their C-terminal domains. (EntrezGene)" @default.
- NCIT_C163039 NCIT_R130 NCIT_C17132 @default.
- NCIT_C163039 NCIT_R130 NCIT_C19779 @default.
- NCIT_C163039 NCIT_R130 NCIT_C20633 @default.
- NCIT_C163039 NCIT_R130 NCIT_C39105 @default.
- NCIT_C163039 NCIT_R130 NCIT_C91460 @default.
- NCIT_C163039 NCIT_R130 NCIT_C91467 @default.
- NCIT_C163039 NCIT_R130 NCIT_C91822 @default.
- NCIT_C163039 NCIT_R37 NCIT_C17019 @default.
- NCIT_C163039 NCIT_R37 NCIT_C17710 @default.
- NCIT_C163039 NCIT_R37 NCIT_C17828 @default.
- NCIT_C163039 NCIT_R37 NCIT_C19406 @default.
- NCIT_C163039 NCIT_R37 NCIT_C19536 @default.
- NCIT_C163039 NCIT_R37 NCIT_C19903 @default.
- NCIT_C163039 NCIT_R37 NCIT_C20480 @default.
- NCIT_C163039 NCIT_R37 NCIT_C21079 @default.
- NCIT_C163039 NCIT_R37 NCIT_C21198 @default.
- NCIT_C163039 NCIT_R37 NCIT_C28498 @default.
- NCIT_C163039 NCIT_R37 NCIT_C40515 @default.
- NCIT_C163039 NCIT_R41 NCIT_C14182 @default.
- NCIT_C163039 NCIT_R41 NCIT_C14225 @default.
- NCIT_C163039 NCIT_R41 NCIT_C14234 @default.
- NCIT_C163039 NCIT_R41 NCIT_C14250 @default.
- NCIT_C163039 NCIT_R41 NCIT_C14262 @default.
- NCIT_C163039 NCIT_R41 NCIT_C14282 @default.
- NCIT_C163039 NCIT_R41 NCIT_C25796 @default.
- NCIT_C163039 NCIT_R41 NCIT_C79740 @default.
- NCIT_C163039 normalizedInformationContent "100" @default.
- NCIT_C163039 referenceCount "1" @default.
- NCIT_C163039 hasExactSynonym "AAH" @default.
- NCIT_C163039 hasExactSynonym "ASPH wt Allele" @default.
- NCIT_C163039 hasExactSynonym "Aspartate Beta-Hydroxylase wt Allele" @default.
- NCIT_C163039 hasExactSynonym "BAH" @default.
- NCIT_C163039 hasExactSynonym "CASQ2BP1" @default.
- NCIT_C163039 hasExactSynonym "Cardiac Junctin Gene" @default.
- NCIT_C163039 hasExactSynonym "FDLAB" @default.
- NCIT_C163039 hasExactSynonym "HAAH" @default.
- NCIT_C163039 hasExactSynonym "Humbug Gene" @default.
- NCIT_C163039 hasExactSynonym "JCTN" @default.
- NCIT_C163039 hasExactSynonym "Junctate Gene" @default.
- NCIT_C163039 hasExactSynonym "Junctin Gene" @default.
- NCIT_C163039 inSubset NCIT_C116977 @default.
- NCIT_C163039 inSubset NCIT_C142799 @default.
- NCIT_C163039 inSubset NCIT_C142800 @default.
- NCIT_C163039 type Class @default.
- NCIT_C163039 isDefinedBy ncit.owl @default.
- NCIT_C163039 label "ASPH wt Allele" @default.
- NCIT_C163039 subClassOf B0f280cb6e57100b9c0263787085fa327 @default.
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- NCIT_C163039 subClassOf NCIT_C163025 @default.
- NCIT_C163039 subClassOf NCIT_C163039 @default.
- NCIT_C163039 subClassOf NCIT_C16612 @default.
- NCIT_C163039 subClassOf NCIT_C20194 @default.