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- B510d930f00bce8b1c6e2ac2309609fb5 NCIT_P378 "NCI" @default.
- B510d930f00bce8b1c6e2ac2309609fb5 NCIT_P381 "OMIM" @default.
- B510d930f00bce8b1c6e2ac2309609fb5 type Axiom @default.
- B510d930f00bce8b1c6e2ac2309609fb5 annotatedProperty IAO_0000115 @default.
- B510d930f00bce8b1c6e2ac2309609fb5 annotatedSource NCIT_C74466 @default.
- B510d930f00bce8b1c6e2ac2309609fb5 annotatedTarget "Human MMADHC wild-type allele is located in the vicinity of 2q23.2 and is approximately 18 kb in length. This allele, which encodes Methylmalonic aciduria and homocystinuria type D protein, mitochondrial, plays a role in the mediation of vitamin B12 metabolism. Mutation of the gene is associated with some cases of homocystinuria, and methylmalonic aciduria." @default.