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- source_evidence_literature type ECO_0000212 NP1073514.RAP1DigOv1SboBi10dfPlc7ysxBLCimlJiUp99Gt_neHY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1073514.RAP1DigOv1SboBi10dfPlc7ysxBLCimlJiUp99Gt_neHY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1073514.RAP1DigOv1SboBi10dfPlc7ysxBLCimlJiUp99Gt_neHY130_provenance.
- NP1073514.RAP1DigOv1SboBi10dfPlc7ysxBLCimlJiUp99Gt_neHY130_assertion description "[Multiple osteochondromas (MO) is an autosomal dominant hereditary disorder caused by heterozygous germline mutations in the exostonsin-1 (EXT1) or exostosin-2 (EXT2) genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1073514.RAP1DigOv1SboBi10dfPlc7ysxBLCimlJiUp99Gt_neHY130_provenance.
- NP1073514.RAP1DigOv1SboBi10dfPlc7ysxBLCimlJiUp99Gt_neHY130_assertion evidence source_evidence_literature NP1073514.RAP1DigOv1SboBi10dfPlc7ysxBLCimlJiUp99Gt_neHY130_provenance.
- NP1073514.RAP1DigOv1SboBi10dfPlc7ysxBLCimlJiUp99Gt_neHY130_assertion SIO_000772 23629877 NP1073514.RAP1DigOv1SboBi10dfPlc7ysxBLCimlJiUp99Gt_neHY130_provenance.
- NP1073514.RAP1DigOv1SboBi10dfPlc7ysxBLCimlJiUp99Gt_neHY130_assertion wasDerivedFrom befree-2016 NP1073514.RAP1DigOv1SboBi10dfPlc7ysxBLCimlJiUp99Gt_neHY130_provenance.
- NP1073514.RAP1DigOv1SboBi10dfPlc7ysxBLCimlJiUp99Gt_neHY130_assertion wasGeneratedBy ECO_0000203 NP1073514.RAP1DigOv1SboBi10dfPlc7ysxBLCimlJiUp99Gt_neHY130_provenance.
- befree-2016 importedOn "2016-02-19" NP1073514.RAP1DigOv1SboBi10dfPlc7ysxBLCimlJiUp99Gt_neHY130_provenance.