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- source_evidence_literature type ECO_0000212 NP529975.RAL1TS71clPPhmwiagM7Ir3P-2FkTOPMOO29M6m9ixyG4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP529975.RAL1TS71clPPhmwiagM7Ir3P-2FkTOPMOO29M6m9ixyG4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP529975.RAL1TS71clPPhmwiagM7Ir3P-2FkTOPMOO29M6m9ixyG4130_provenance.
- NP529975.RAL1TS71clPPhmwiagM7Ir3P-2FkTOPMOO29M6m9ixyG4130_assertion description "[Mutations in the X-chromosomal gene (L1CAM) for cell adhesion molecule L1 are associated with a heterogeneous group of conditions that include agenesis of the corpus callosum, hydrocephalus, spastic paraplegia, adducted thumbs and mental retardation (L1-spectrum disease, CRASH or MASA syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP529975.RAL1TS71clPPhmwiagM7Ir3P-2FkTOPMOO29M6m9ixyG4130_provenance.
- NP529975.RAL1TS71clPPhmwiagM7Ir3P-2FkTOPMOO29M6m9ixyG4130_assertion evidence source_evidence_literature NP529975.RAL1TS71clPPhmwiagM7Ir3P-2FkTOPMOO29M6m9ixyG4130_provenance.
- NP529975.RAL1TS71clPPhmwiagM7Ir3P-2FkTOPMOO29M6m9ixyG4130_assertion SIO_000772 17294222 NP529975.RAL1TS71clPPhmwiagM7Ir3P-2FkTOPMOO29M6m9ixyG4130_provenance.
- NP529975.RAL1TS71clPPhmwiagM7Ir3P-2FkTOPMOO29M6m9ixyG4130_assertion wasDerivedFrom befree-20150227 NP529975.RAL1TS71clPPhmwiagM7Ir3P-2FkTOPMOO29M6m9ixyG4130_provenance.
- NP529975.RAL1TS71clPPhmwiagM7Ir3P-2FkTOPMOO29M6m9ixyG4130_assertion wasGeneratedBy ECO_0000203 NP529975.RAL1TS71clPPhmwiagM7Ir3P-2FkTOPMOO29M6m9ixyG4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP529975.RAL1TS71clPPhmwiagM7Ir3P-2FkTOPMOO29M6m9ixyG4130_provenance.