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- source_evidence_literature type ECO_0000212 NP796833.RA2nuY5CRgZNFbYcHawrKHpfpW977w9eA2zqqIrKYmsuI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP796833.RA2nuY5CRgZNFbYcHawrKHpfpW977w9eA2zqqIrKYmsuI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP796833.RA2nuY5CRgZNFbYcHawrKHpfpW977w9eA2zqqIrKYmsuI130_provenance.
- NP796833.RA2nuY5CRgZNFbYcHawrKHpfpW977w9eA2zqqIrKYmsuI130_assertion description "[Mutations in OFD1 also cause X-linked Joubert syndrome (JBTS10) and Simpson-Golabi-Behmel syndrome type 2 (SGBS2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP796833.RA2nuY5CRgZNFbYcHawrKHpfpW977w9eA2zqqIrKYmsuI130_provenance.
- NP796833.RA2nuY5CRgZNFbYcHawrKHpfpW977w9eA2zqqIrKYmsuI130_assertion evidence source_evidence_literature NP796833.RA2nuY5CRgZNFbYcHawrKHpfpW977w9eA2zqqIrKYmsuI130_provenance.
- NP796833.RA2nuY5CRgZNFbYcHawrKHpfpW977w9eA2zqqIrKYmsuI130_assertion SIO_000772 23033313 NP796833.RA2nuY5CRgZNFbYcHawrKHpfpW977w9eA2zqqIrKYmsuI130_provenance.
- NP796833.RA2nuY5CRgZNFbYcHawrKHpfpW977w9eA2zqqIrKYmsuI130_assertion wasDerivedFrom befree-20150227 NP796833.RA2nuY5CRgZNFbYcHawrKHpfpW977w9eA2zqqIrKYmsuI130_provenance.
- NP796833.RA2nuY5CRgZNFbYcHawrKHpfpW977w9eA2zqqIrKYmsuI130_assertion wasGeneratedBy ECO_0000203 NP796833.RA2nuY5CRgZNFbYcHawrKHpfpW977w9eA2zqqIrKYmsuI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP796833.RA2nuY5CRgZNFbYcHawrKHpfpW977w9eA2zqqIrKYmsuI130_provenance.