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- source_evidence_literature type ECO_0000212 NP548292.RA167UGIFLroLu3Id5IrdiH4GySpwt7JYGnUd_Z2EAnXU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP548292.RA167UGIFLroLu3Id5IrdiH4GySpwt7JYGnUd_Z2EAnXU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP548292.RA167UGIFLroLu3Id5IrdiH4GySpwt7JYGnUd_Z2EAnXU130_provenance.
- NP548292.RA167UGIFLroLu3Id5IrdiH4GySpwt7JYGnUd_Z2EAnXU130_assertion description "[Defective TGF-beta signaling in endothelial cells attributable to mutations in endoglin or the type I receptor ALK-1 leads to hereditary hemorrhagic telangiectasia, whereas defective BMP signaling attributable to mutations in the BMP receptor II has been associated with development of primary pulmonary hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP548292.RA167UGIFLroLu3Id5IrdiH4GySpwt7JYGnUd_Z2EAnXU130_provenance.
- NP548292.RA167UGIFLroLu3Id5IrdiH4GySpwt7JYGnUd_Z2EAnXU130_assertion evidence source_evidence_literature NP548292.RA167UGIFLroLu3Id5IrdiH4GySpwt7JYGnUd_Z2EAnXU130_provenance.
- NP548292.RA167UGIFLroLu3Id5IrdiH4GySpwt7JYGnUd_Z2EAnXU130_assertion SIO_000772 16675726 NP548292.RA167UGIFLroLu3Id5IrdiH4GySpwt7JYGnUd_Z2EAnXU130_provenance.
- NP548292.RA167UGIFLroLu3Id5IrdiH4GySpwt7JYGnUd_Z2EAnXU130_assertion wasDerivedFrom befree-2016 NP548292.RA167UGIFLroLu3Id5IrdiH4GySpwt7JYGnUd_Z2EAnXU130_provenance.
- NP548292.RA167UGIFLroLu3Id5IrdiH4GySpwt7JYGnUd_Z2EAnXU130_assertion wasGeneratedBy ECO_0000203 NP548292.RA167UGIFLroLu3Id5IrdiH4GySpwt7JYGnUd_Z2EAnXU130_provenance.
- befree-2016 importedOn "2016-02-19" NP548292.RA167UGIFLroLu3Id5IrdiH4GySpwt7JYGnUd_Z2EAnXU130_provenance.