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- source_evidence_literature type ECO_0000212 NP592062.RAtzCc9N-k1LO10qKF4B98vbpNB7MjntSALjAKokUjFg0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP592062.RAtzCc9N-k1LO10qKF4B98vbpNB7MjntSALjAKokUjFg0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP592062.RAtzCc9N-k1LO10qKF4B98vbpNB7MjntSALjAKokUjFg0130_provenance.
- NP592062.RAtzCc9N-k1LO10qKF4B98vbpNB7MjntSALjAKokUjFg0130_assertion description "[Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP592062.RAtzCc9N-k1LO10qKF4B98vbpNB7MjntSALjAKokUjFg0130_provenance.
- NP592062.RAtzCc9N-k1LO10qKF4B98vbpNB7MjntSALjAKokUjFg0130_assertion evidence source_evidence_literature NP592062.RAtzCc9N-k1LO10qKF4B98vbpNB7MjntSALjAKokUjFg0130_provenance.
- NP592062.RAtzCc9N-k1LO10qKF4B98vbpNB7MjntSALjAKokUjFg0130_assertion SIO_000772 17273969 NP592062.RAtzCc9N-k1LO10qKF4B98vbpNB7MjntSALjAKokUjFg0130_provenance.
- NP592062.RAtzCc9N-k1LO10qKF4B98vbpNB7MjntSALjAKokUjFg0130_assertion wasDerivedFrom befree-2016 NP592062.RAtzCc9N-k1LO10qKF4B98vbpNB7MjntSALjAKokUjFg0130_provenance.
- NP592062.RAtzCc9N-k1LO10qKF4B98vbpNB7MjntSALjAKokUjFg0130_assertion wasGeneratedBy ECO_0000203 NP592062.RAtzCc9N-k1LO10qKF4B98vbpNB7MjntSALjAKokUjFg0130_provenance.
- befree-2016 importedOn "2016-02-19" NP592062.RAtzCc9N-k1LO10qKF4B98vbpNB7MjntSALjAKokUjFg0130_provenance.