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- B036a4dffbaec96c698b9fb0e40b7911e NCIT_P378 "NCI" @default.
- B036a4dffbaec96c698b9fb0e40b7911e type Axiom @default.
- B036a4dffbaec96c698b9fb0e40b7911e annotatedProperty IAO_0000115 @default.
- B036a4dffbaec96c698b9fb0e40b7911e annotatedSource NCIT_C201162 @default.
- B036a4dffbaec96c698b9fb0e40b7911e annotatedTarget "Human FKTN wild-type allele is located in the vicinity of 9q31.2 and is approximately 96 kb in length. This allele, which encodes ribitol-5-phosphate transferase FKTN protein, plays a role in the maturation of O-linked glycans. Mutation of the gene is associated with Fukuyama-type congenital muscular dystrophy, Walker-Warburg syndrome, limb-girdle muscular dystrophy type 2M and dilated cardiomyopathy type 1X." @default.