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- NCIT_C112137 IAO_0000115 "Human L1CAM wild-type allele is located in the vicinity of Xq28 and is approximately 48 kb in length. This allele, which encodes neural cell adhesion molecule L1 protein, is involved in neuron-neuron cell adhesion, axon guidance and bundling of neurons. Mutation of the gene is associated with hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS), mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA or CRASH syndrome), spastic paraplegia 1, X-linked and agenesis of the corpus callosum, X-linked, partial and may contribute to intestinal aganglionosis in Hirschsprung disease." @default.
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- NCIT_C112137 NCIT_P102 "M74387" @default.
- NCIT_C112137 NCIT_P106 "Gene or Genome" @default.
- NCIT_C112137 NCIT_P107 "L1CAM wt Allele" @default.
- NCIT_C112137 NCIT_P108 "L1CAM wt Allele" @default.
- NCIT_C112137 NCIT_P207 "C3810647" @default.
- NCIT_C112137 NCIT_P321 "3897" @default.
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- NCIT_C112137 normalizedInformationContent "100" @default.
- NCIT_C112137 referenceCount "1" @default.
- NCIT_C112137 hasExactSynonym "Antigen Identified By Monoclonal Antibody R1 Gene" @default.
- NCIT_C112137 hasExactSynonym "CAML1" @default.
- NCIT_C112137 hasExactSynonym "CD171" @default.
- NCIT_C112137 hasExactSynonym "HSAS" @default.
- NCIT_C112137 hasExactSynonym "HSAS1" @default.
- NCIT_C112137 hasExactSynonym "L1 Cell Adhesion Molecule wt Allele" @default.
- NCIT_C112137 hasExactSynonym "L1-CAM" @default.
- NCIT_C112137 hasExactSynonym "L1CAM wt Allele" @default.
- NCIT_C112137 hasExactSynonym "MASA" @default.
- NCIT_C112137 hasExactSynonym "MIC5" @default.
- NCIT_C112137 hasExactSynonym "N-CAM-L1" @default.
- NCIT_C112137 hasExactSynonym "N-CAML1" @default.
- NCIT_C112137 hasExactSynonym "NCAM-L1" @default.
- NCIT_C112137 hasExactSynonym "S10" @default.
- NCIT_C112137 hasExactSynonym "SPG1" @default.
- NCIT_C112137 inSubset NCIT_C116977 @default.
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- NCIT_C112137 type Class @default.
- NCIT_C112137 isDefinedBy ncit.owl @default.
- NCIT_C112137 label "L1CAM wt Allele" @default.
- NCIT_C112137 subClassOf NCIT_C112136 @default.
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