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- Ba88f3cc57becb1e96ab8bb2f92fa25b1 NCIT_P378 "NCI" @default.
- Ba88f3cc57becb1e96ab8bb2f92fa25b1 type Axiom @default.
- Ba88f3cc57becb1e96ab8bb2f92fa25b1 annotatedProperty IAO_0000115 @default.
- Ba88f3cc57becb1e96ab8bb2f92fa25b1 annotatedSource NCIT_C178195 @default.
- Ba88f3cc57becb1e96ab8bb2f92fa25b1 annotatedTarget "Human AIFM1 wild-type allele is located Xq26.1 and is approximately 37 kb in length. This allele, which encodes apoptosis-inducing factor 1, mitochondrial protein, is involved in apoptosis and mitochondrial respiratory activity. Mutations in the gene are associated with Cowchock syndrome (X-linked recessive Charcot-Marie-Tooth disease 4), X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy, X-linked deafness 5 and combined oxidative phosphorylation deficiency 6." @default.