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- B0a5cd6156cb117e234f17af1de48382c NCIT_P378 "NICHD" @default.
- B0a5cd6156cb117e234f17af1de48382c type Axiom @default.
- B0a5cd6156cb117e234f17af1de48382c annotatedProperty NCIT_P325 @default.
- B0a5cd6156cb117e234f17af1de48382c annotatedSource NCIT_C3105 @default.
- B0a5cd6156cb117e234f17af1de48382c annotatedTarget "An autosomal dominant multiple neoplasia syndrome caused by germline mutations of the VHL gene, encoding the protein von Hippel-Lindau tumor suppressor (pVHL). The condition is characterized by development of capillary hemangioblastomas of the central nervous system and retina, clear cell renal carcinoma, pheochromocytoma, pancreatic tumors, and inner ear tumors (endolymphatic sac tumors)." @default.