Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B43ef09ba4c5ce939bb83ffff0afc7fe8> ?p ?o ?g. }
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- B43ef09ba4c5ce939bb83ffff0afc7fe8 hasDbXref "PMID:27799409" @default.
- B43ef09ba4c5ce939bb83ffff0afc7fe8 hasDbXref "PMID:27899449" @default.
- B43ef09ba4c5ce939bb83ffff0afc7fe8 hasDbXref "https://clinicalgenome.org/affiliation/40049/" @default.
- B43ef09ba4c5ce939bb83ffff0afc7fe8 type Axiom @default.
- B43ef09ba4c5ce939bb83ffff0afc7fe8 annotatedProperty IAO_0000115 @default.
- B43ef09ba4c5ce939bb83ffff0afc7fe8 annotatedSource MONDO_0100112 @default.
- B43ef09ba4c5ce939bb83ffff0afc7fe8 annotatedTarget "A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay." @default.