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- source_evidence_literature type ECO_0000212 NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_provenance.
- NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_assertion description "[Smith-Magenis syndrome (SMS), manifesting obesity and hypercholesterolemia, results from a deletion CNV at 17p11.2, but is sometimes due to haploinsufficiency of a single gene, RAI1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_provenance.
- NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_assertion evidence source_evidence_literature NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_provenance.
- NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_assertion SIO_000772 22654670 NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_provenance.
- NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_assertion wasDerivedFrom befree-20140225 NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_provenance.
- NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_assertion wasGeneratedBy ECO_0000203 NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_provenance.
- befree-20140225 importedOn "2014-02-25" NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_provenance.