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- source_evidence_literature type ECO_0000212 NP422613.RAbBFvJ7m7uNPRA-Uv3-E6Y29J5LZ9dfUZwuSDzJ8Sg2Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP422613.RAbBFvJ7m7uNPRA-Uv3-E6Y29J5LZ9dfUZwuSDzJ8Sg2Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP422613.RAbBFvJ7m7uNPRA-Uv3-E6Y29J5LZ9dfUZwuSDzJ8Sg2Q130_provenance.
- befree-20150227 importedOn "2015-02-27" NP422613.RAbBFvJ7m7uNPRA-Uv3-E6Y29J5LZ9dfUZwuSDzJ8Sg2Q130_provenance.
- NP422613.RAbBFvJ7m7uNPRA-Uv3-E6Y29J5LZ9dfUZwuSDzJ8Sg2Q130_assertion wasGeneratedBy ECO_0000203 NP422613.RAbBFvJ7m7uNPRA-Uv3-E6Y29J5LZ9dfUZwuSDzJ8Sg2Q130_provenance.
- NP422613.RAbBFvJ7m7uNPRA-Uv3-E6Y29J5LZ9dfUZwuSDzJ8Sg2Q130_assertion wasDerivedFrom befree-20150227 NP422613.RAbBFvJ7m7uNPRA-Uv3-E6Y29J5LZ9dfUZwuSDzJ8Sg2Q130_provenance.
- NP422613.RAbBFvJ7m7uNPRA-Uv3-E6Y29J5LZ9dfUZwuSDzJ8Sg2Q130_assertion SIO_000772 10978357 NP422613.RAbBFvJ7m7uNPRA-Uv3-E6Y29J5LZ9dfUZwuSDzJ8Sg2Q130_provenance.
- NP422613.RAbBFvJ7m7uNPRA-Uv3-E6Y29J5LZ9dfUZwuSDzJ8Sg2Q130_assertion evidence source_evidence_literature NP422613.RAbBFvJ7m7uNPRA-Uv3-E6Y29J5LZ9dfUZwuSDzJ8Sg2Q130_provenance.
- NP422613.RAbBFvJ7m7uNPRA-Uv3-E6Y29J5LZ9dfUZwuSDzJ8Sg2Q130_assertion description "[Mutations in RET and in two members of the GDNF ligand family are associated with Hirschsprung disease (HSCR), a congenital absence of the enteric ganglia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP422613.RAbBFvJ7m7uNPRA-Uv3-E6Y29J5LZ9dfUZwuSDzJ8Sg2Q130_provenance.