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- source_evidence_literature type ECO_0000212 NP372287.RAj134xgL8xHMmb-k7D54fuH5c0UF4htvAEgCPNHWo3c4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP372287.RAj134xgL8xHMmb-k7D54fuH5c0UF4htvAEgCPNHWo3c4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP372287.RAj134xgL8xHMmb-k7D54fuH5c0UF4htvAEgCPNHWo3c4130_provenance.
- NP372287.RAj134xgL8xHMmb-k7D54fuH5c0UF4htvAEgCPNHWo3c4130_assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP372287.RAj134xgL8xHMmb-k7D54fuH5c0UF4htvAEgCPNHWo3c4130_provenance.
- NP372287.RAj134xgL8xHMmb-k7D54fuH5c0UF4htvAEgCPNHWo3c4130_assertion evidence source_evidence_literature NP372287.RAj134xgL8xHMmb-k7D54fuH5c0UF4htvAEgCPNHWo3c4130_provenance.
- NP372287.RAj134xgL8xHMmb-k7D54fuH5c0UF4htvAEgCPNHWo3c4130_assertion SIO_000772 12398836 NP372287.RAj134xgL8xHMmb-k7D54fuH5c0UF4htvAEgCPNHWo3c4130_provenance.
- NP372287.RAj134xgL8xHMmb-k7D54fuH5c0UF4htvAEgCPNHWo3c4130_assertion wasDerivedFrom befree-2016 NP372287.RAj134xgL8xHMmb-k7D54fuH5c0UF4htvAEgCPNHWo3c4130_provenance.
- NP372287.RAj134xgL8xHMmb-k7D54fuH5c0UF4htvAEgCPNHWo3c4130_assertion wasGeneratedBy ECO_0000203 NP372287.RAj134xgL8xHMmb-k7D54fuH5c0UF4htvAEgCPNHWo3c4130_provenance.
- befree-2016 importedOn "2016-02-19" NP372287.RAj134xgL8xHMmb-k7D54fuH5c0UF4htvAEgCPNHWo3c4130_provenance.