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- NCIT_C173460 IAO_0000115 "Human ADA2 wild-type allele is located in the vicinity of 22q11.1 and is approximately 79 kb in length. This allele, which encodes adenosine deaminase 2 protein, is involved in adenosine metabolism. Mutation of the gene is associated with Sneddon syndrome and vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS). Amplification of the region including this gene is caused by a supernumerary bisatellited isodicentric chromosomal abnormality and is associated with Cat Eye Syndrome." @default.
- NCIT_C173460 NCIT_NHC0 "C173460" @default.
- NCIT_C173460 NCIT_P100 "607575" @default.
- NCIT_C173460 NCIT_P102 "AF190746" @default.
- NCIT_C173460 NCIT_P106 "Gene or Genome" @default.
- NCIT_C173460 NCIT_P107 "ADA2 wt Allele" @default.
- NCIT_C173460 NCIT_P108 "ADA2 wt Allele" @default.
- NCIT_C173460 NCIT_P208 "CL1407462" @default.
- NCIT_C173460 NCIT_P321 "51816" @default.
- NCIT_C173460 NCIT_P322 "CTRP" @default.
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- NCIT_C173460 NCIT_R37 NCIT_C19899 @default.
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- NCIT_C173460 NCIT_R37 NCIT_C28498 @default.
- NCIT_C173460 NCIT_R41 NCIT_C14182 @default.
- NCIT_C173460 NCIT_R41 NCIT_C14225 @default.
- NCIT_C173460 NCIT_R41 NCIT_C14234 @default.
- NCIT_C173460 NCIT_R41 NCIT_C14250 @default.
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- NCIT_C173460 NCIT_R41 NCIT_C14282 @default.
- NCIT_C173460 NCIT_R41 NCIT_C25796 @default.
- NCIT_C173460 NCIT_R41 NCIT_C79740 @default.
- NCIT_C173460 normalizedInformationContent "100" @default.
- NCIT_C173460 referenceCount "1" @default.
- NCIT_C173460 hasExactSynonym "ADA2 wt Allele" @default.
- NCIT_C173460 hasExactSynonym "ADGF" @default.
- NCIT_C173460 hasExactSynonym "Adenosine Deaminase 2 wt Allele" @default.
- NCIT_C173460 hasExactSynonym "CECR1" @default.
- NCIT_C173460 hasExactSynonym "Cat Eye Syndrome Chromosome Region, Candidate 1 Gene" @default.
- NCIT_C173460 hasExactSynonym "IDGFL" @default.
- NCIT_C173460 hasExactSynonym "PAN" @default.
- NCIT_C173460 hasExactSynonym "SNEDS" @default.
- NCIT_C173460 hasExactSynonym "VAIHS" @default.
- NCIT_C173460 inSubset NCIT_C116977 @default.
- NCIT_C173460 inSubset NCIT_C142799 @default.
- NCIT_C173460 inSubset NCIT_C142800 @default.
- NCIT_C173460 type Class @default.
- NCIT_C173460 isDefinedBy ncit.owl @default.
- NCIT_C173460 label "ADA2 wt Allele" @default.
- NCIT_C173460 subClassOf B1fc7ec59961b82bdf84d97d29a08d6df @default.
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- NCIT_C173460 subClassOf NCIT_C173459 @default.
- NCIT_C173460 subClassOf NCIT_C173460 @default.
- NCIT_C173460 subClassOf NCIT_C21281 @default.
- NCIT_C173460 subClassOf NCIT_C25804 @default.