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- source_evidence_literature type ECO_0000212 NP836071.RAH3E6BdxFM7DeDSWsHsK1eWtYEWagXOeYqFFv1_66Hkw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP836071.RAH3E6BdxFM7DeDSWsHsK1eWtYEWagXOeYqFFv1_66Hkw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP836071.RAH3E6BdxFM7DeDSWsHsK1eWtYEWagXOeYqFFv1_66Hkw130_provenance.
- NP836071.RAH3E6BdxFM7DeDSWsHsK1eWtYEWagXOeYqFFv1_66Hkw130_assertion description "[Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver syndrome/spastic paraplegia 17, distal hereditary motor neuropathy type V, and Charcot-Marie-Tooth disease type 2 (CMT2) with predominant hand involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP836071.RAH3E6BdxFM7DeDSWsHsK1eWtYEWagXOeYqFFv1_66Hkw130_provenance.
- NP836071.RAH3E6BdxFM7DeDSWsHsK1eWtYEWagXOeYqFFv1_66Hkw130_assertion evidence source_evidence_literature NP836071.RAH3E6BdxFM7DeDSWsHsK1eWtYEWagXOeYqFFv1_66Hkw130_provenance.
- NP836071.RAH3E6BdxFM7DeDSWsHsK1eWtYEWagXOeYqFFv1_66Hkw130_assertion SIO_000772 20806400 NP836071.RAH3E6BdxFM7DeDSWsHsK1eWtYEWagXOeYqFFv1_66Hkw130_provenance.
- NP836071.RAH3E6BdxFM7DeDSWsHsK1eWtYEWagXOeYqFFv1_66Hkw130_assertion wasDerivedFrom befree-2016 NP836071.RAH3E6BdxFM7DeDSWsHsK1eWtYEWagXOeYqFFv1_66Hkw130_provenance.
- NP836071.RAH3E6BdxFM7DeDSWsHsK1eWtYEWagXOeYqFFv1_66Hkw130_assertion wasGeneratedBy ECO_0000203 NP836071.RAH3E6BdxFM7DeDSWsHsK1eWtYEWagXOeYqFFv1_66Hkw130_provenance.
- befree-2016 importedOn "2016-02-19" NP836071.RAH3E6BdxFM7DeDSWsHsK1eWtYEWagXOeYqFFv1_66Hkw130_provenance.