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- source_evidence_literature type ECO_0000212 NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_provenance.
- NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_assertion description "[Three non-synonymous variants in NKX2-5 were identified in the heterozygous state: a novel p.Pro5Ser was found in one DS patient without CHD; the p.Glu21Gln was found in one ASDII patient; and the p.Arg25Cys (R25C) was found in three patients (one from each DS study group).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_provenance.
- NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_assertion evidence source_evidence_literature NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_provenance.
- NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_assertion SIO_000772 25524324 NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_provenance.
- NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_assertion wasDerivedFrom befree-2016 NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_provenance.
- NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_assertion wasGeneratedBy ECO_0000203 NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_provenance.
- befree-2016 importedOn "2016-02-19" NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_provenance.