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- source_evidence_literature type ECO_0000212 NP262837.RAfSt2y5uJOU3KoirYJs_dXw8aZN9PebN2m-g7f1Z5PI4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP262837.RAfSt2y5uJOU3KoirYJs_dXw8aZN9PebN2m-g7f1Z5PI4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP262837.RAfSt2y5uJOU3KoirYJs_dXw8aZN9PebN2m-g7f1Z5PI4130_provenance.
- NP262837.RAfSt2y5uJOU3KoirYJs_dXw8aZN9PebN2m-g7f1Z5PI4130_assertion description "[Germline mutations of RET cause a dominantly inherited dysgenesis of the enteric nervous system known as Hirschsprung's disease (HSCR; aganglionosis megacolon).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP262837.RAfSt2y5uJOU3KoirYJs_dXw8aZN9PebN2m-g7f1Z5PI4130_provenance.
- NP262837.RAfSt2y5uJOU3KoirYJs_dXw8aZN9PebN2m-g7f1Z5PI4130_assertion evidence source_evidence_literature NP262837.RAfSt2y5uJOU3KoirYJs_dXw8aZN9PebN2m-g7f1Z5PI4130_provenance.
- NP262837.RAfSt2y5uJOU3KoirYJs_dXw8aZN9PebN2m-g7f1Z5PI4130_assertion SIO_000772 10484767 NP262837.RAfSt2y5uJOU3KoirYJs_dXw8aZN9PebN2m-g7f1Z5PI4130_provenance.
- NP262837.RAfSt2y5uJOU3KoirYJs_dXw8aZN9PebN2m-g7f1Z5PI4130_assertion wasDerivedFrom befree-2016 NP262837.RAfSt2y5uJOU3KoirYJs_dXw8aZN9PebN2m-g7f1Z5PI4130_provenance.
- NP262837.RAfSt2y5uJOU3KoirYJs_dXw8aZN9PebN2m-g7f1Z5PI4130_assertion wasGeneratedBy ECO_0000203 NP262837.RAfSt2y5uJOU3KoirYJs_dXw8aZN9PebN2m-g7f1Z5PI4130_provenance.
- befree-2016 importedOn "2016-02-19" NP262837.RAfSt2y5uJOU3KoirYJs_dXw8aZN9PebN2m-g7f1Z5PI4130_provenance.