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- NCIT_C191840 IAO_0000115 "Human KIF5A wild-type allele is located in the vicinity of 12q13.3 and is approximately 41 kb in length. This allele, which encodes kinesin heavy chain isoform 5A protein, is involved in transport of neurofilament proteins, axon elongation, vesicular transport and the formation of neurite-like membrane protrusions. Mutation of the gene is associated with intractable neonatal myoclonus, autosomal dominant spastic paraplegia 10 and susceptibility to amyotrophic lateral sclerosis type 25." @default.
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- NCIT_C191840 NCIT_P100 "602821" @default.
- NCIT_C191840 NCIT_P102 "U06698" @default.
- NCIT_C191840 NCIT_P106 "Gene or Genome" @default.
- NCIT_C191840 NCIT_P108 "KIF5A wt Allele" @default.
- NCIT_C191840 NCIT_P208 "CL1905149" @default.
- NCIT_C191840 NCIT_P321 "3798" @default.
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- NCIT_C191840 normalizedInformationContent "100" @default.
- NCIT_C191840 referenceCount "1" @default.
- NCIT_C191840 hasExactSynonym "ALS25" @default.
- NCIT_C191840 hasExactSynonym "D12S1889" @default.
- NCIT_C191840 hasExactSynonym "KIF5A wt Allele" @default.
- NCIT_C191840 hasExactSynonym "Kinesin Family Member 5A wt Allele" @default.
- NCIT_C191840 hasExactSynonym "Kinesin, Heavy Chain, Neuron-Specific Gene" @default.
- NCIT_C191840 hasExactSynonym "MY050" @default.
- NCIT_C191840 hasExactSynonym "NEIMY" @default.
- NCIT_C191840 hasExactSynonym "NKHC" @default.
- NCIT_C191840 hasExactSynonym "NKHC1" @default.
- NCIT_C191840 hasExactSynonym "Neuron-Specific Kinesin Heavy Chain Gene" @default.
- NCIT_C191840 hasExactSynonym "SPG10" @default.
- NCIT_C191840 hasExactSynonym "Spastic Paraplegia 10 (Autosomal Dominant) Gene" @default.
- NCIT_C191840 type Class @default.
- NCIT_C191840 isDefinedBy ncit.owl @default.
- NCIT_C191840 label "KIF5A wt Allele" @default.
- NCIT_C191840 subClassOf NCIT_C16612 @default.
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