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- source_evidence_literature type ECO_0000212 NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_provenance.
- NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_assertion description "[Recessive mutations in FKBP10 at 17q21.2, encoding FKBP65, cause both osteogenesis imperfecta (OI) and Bruck syndrome (OI plus congenital contractures).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_provenance.
- NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_assertion evidence source_evidence_literature NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_provenance.
- NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_assertion SIO_000772 23712425 NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_provenance.
- NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_assertion wasDerivedFrom befree-2016 NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_provenance.
- NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_assertion wasGeneratedBy ECO_0000203 NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_provenance.
- befree-2016 importedOn "2016-02-19" NP1081106.RAoW909dp6g-aqOFG0Dt1k43Vmmfcv_mnpVrMZXjFT-OU130_provenance.