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- Bc0cc5c797d8895d3b9f2c29743079b9c NCIT_P378 "NCI" @default.
- Bc0cc5c797d8895d3b9f2c29743079b9c type Axiom @default.
- Bc0cc5c797d8895d3b9f2c29743079b9c annotatedProperty IAO_0000115 @default.
- Bc0cc5c797d8895d3b9f2c29743079b9c annotatedSource NCIT_C173460 @default.
- Bc0cc5c797d8895d3b9f2c29743079b9c annotatedTarget "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.