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- source_evidence_literature type ECO_0000212 NP892194.RAwWAfOUSyfAt5eVJE2EE9Qd-erNr_aiJnRSq3SFYn9rs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP892194.RAwWAfOUSyfAt5eVJE2EE9Qd-erNr_aiJnRSq3SFYn9rs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP892194.RAwWAfOUSyfAt5eVJE2EE9Qd-erNr_aiJnRSq3SFYn9rs130_provenance.
- NP892194.RAwWAfOUSyfAt5eVJE2EE9Qd-erNr_aiJnRSq3SFYn9rs130_assertion description "[Mutations in the human alpha-sarcoglycan gene on chromosome 17q21.2 have been shown to cause a severe childhood autosomal recessive muscular dystrophy, a less severe limb girdle muscular dystrophy, exercise intolerance, or asymptomatic hyperCKemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP892194.RAwWAfOUSyfAt5eVJE2EE9Qd-erNr_aiJnRSq3SFYn9rs130_provenance.
- NP892194.RAwWAfOUSyfAt5eVJE2EE9Qd-erNr_aiJnRSq3SFYn9rs130_assertion evidence source_evidence_literature NP892194.RAwWAfOUSyfAt5eVJE2EE9Qd-erNr_aiJnRSq3SFYn9rs130_provenance.
- NP892194.RAwWAfOUSyfAt5eVJE2EE9Qd-erNr_aiJnRSq3SFYn9rs130_assertion SIO_000772 14595658 NP892194.RAwWAfOUSyfAt5eVJE2EE9Qd-erNr_aiJnRSq3SFYn9rs130_provenance.
- NP892194.RAwWAfOUSyfAt5eVJE2EE9Qd-erNr_aiJnRSq3SFYn9rs130_assertion wasDerivedFrom befree-20140225 NP892194.RAwWAfOUSyfAt5eVJE2EE9Qd-erNr_aiJnRSq3SFYn9rs130_provenance.
- NP892194.RAwWAfOUSyfAt5eVJE2EE9Qd-erNr_aiJnRSq3SFYn9rs130_assertion wasGeneratedBy ECO_0000203 NP892194.RAwWAfOUSyfAt5eVJE2EE9Qd-erNr_aiJnRSq3SFYn9rs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP892194.RAwWAfOUSyfAt5eVJE2EE9Qd-erNr_aiJnRSq3SFYn9rs130_provenance.