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- NCIT_C178195 IAO_0000115 "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.
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- NCIT_C178195 NCIT_P106 "Gene or Genome" @default.
- NCIT_C178195 NCIT_P107 "AIFM1 wt Allele" @default.
- NCIT_C178195 NCIT_P108 "AIFM1 wt Allele" @default.
- NCIT_C178195 NCIT_P208 "CL1647901" @default.
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- NCIT_C178195 normalizedInformationContent "100" @default.
- NCIT_C178195 referenceCount "1" @default.
- NCIT_C178195 hasExactSynonym "AIF" @default.
- NCIT_C178195 hasExactSynonym "AIFM1 wt Allele" @default.
- NCIT_C178195 hasExactSynonym "AUNX1" @default.
- NCIT_C178195 hasExactSynonym "Apoptosis Inducing Factor Mitochondria Associated 1 wt Allele" @default.
- NCIT_C178195 hasExactSynonym "Apoptosis Inducing Factor, Mitochondria Associated 1 Gene" @default.
- NCIT_C178195 hasExactSynonym "Apoptosis-Inducing Factor, Mitochondrion-Associated, 1 Gene" @default.
- NCIT_C178195 hasExactSynonym "CMT2D" @default.
- NCIT_C178195 hasExactSynonym "CMTX4" @default.
- NCIT_C178195 hasExactSynonym "COWCK" @default.
- NCIT_C178195 hasExactSynonym "COXPD6" @default.
- NCIT_C178195 hasExactSynonym "DFNX5" @default.
- NCIT_C178195 hasExactSynonym "NADMR" @default.
- NCIT_C178195 hasExactSynonym "NAMSD" @default.
- NCIT_C178195 hasExactSynonym "Neuropathy, Axonal, Motor-Sensory With Deafness and Mental Retardation (Cowchock Syndrome) Gene" @default.
- NCIT_C178195 hasExactSynonym "PDCD8" @default.
- NCIT_C178195 hasExactSynonym "Programmed Cell Death 8 (Apoptosis-Inducing Factor) Gene" @default.
- NCIT_C178195 hasExactSynonym "SEMDHL" @default.
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- NCIT_C178195 type Class @default.
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- NCIT_C178195 label "AIFM1 wt Allele" @default.
- NCIT_C178195 subClassOf NCIT_C16612 @default.
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