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- Bd0e3ea23f0880d8cba433c89af04fdcf NCIT_P378 "NCI" @default.
- Bd0e3ea23f0880d8cba433c89af04fdcf type Axiom @default.
- Bd0e3ea23f0880d8cba433c89af04fdcf annotatedProperty IAO_0000115 @default.
- Bd0e3ea23f0880d8cba433c89af04fdcf annotatedSource NCIT_C157081 @default.
- Bd0e3ea23f0880d8cba433c89af04fdcf annotatedTarget "Human MFSD8 wild-type allele is located in the vicinity of 4q28.2 and is approximately 48 kb in length. This allele, which encodes major facilitator superfamily domain-containing protein 8, plays a role in lysosome activity. Missense mutations in the gene are associated with both macular dystrophy with central cone involvement and late infantile-onset neuronal ceroid lipofuscinosis (vLINCL; neuronal ceroid lipofuscinosis type 7; CLN7 Batten disease)." @default.