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- source_evidence_literature type ECO_0000212 NP575845.RAIPZFT2aAnpbEnDa69So7farZMxwZ3LaM2lM4e5VgwTo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP575845.RAIPZFT2aAnpbEnDa69So7farZMxwZ3LaM2lM4e5VgwTo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP575845.RAIPZFT2aAnpbEnDa69So7farZMxwZ3LaM2lM4e5VgwTo130_provenance.
- NP575845.RAIPZFT2aAnpbEnDa69So7farZMxwZ3LaM2lM4e5VgwTo130_assertion description "[TGFBR2 and TGFBR1 mutations were identified in a subset of patients with MFS (MFS2, OMIM #154705) and other MFS-related disorders, including Loeys-Dietz syndrome (LDS, #OMIM 609192) and familial thoracic aortic aneurysms and dissections (TAAD2, #OMIM 608987).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP575845.RAIPZFT2aAnpbEnDa69So7farZMxwZ3LaM2lM4e5VgwTo130_provenance.
- NP575845.RAIPZFT2aAnpbEnDa69So7farZMxwZ3LaM2lM4e5VgwTo130_assertion evidence source_evidence_literature NP575845.RAIPZFT2aAnpbEnDa69So7farZMxwZ3LaM2lM4e5VgwTo130_provenance.
- NP575845.RAIPZFT2aAnpbEnDa69So7farZMxwZ3LaM2lM4e5VgwTo130_assertion SIO_000772 17061023 NP575845.RAIPZFT2aAnpbEnDa69So7farZMxwZ3LaM2lM4e5VgwTo130_provenance.
- NP575845.RAIPZFT2aAnpbEnDa69So7farZMxwZ3LaM2lM4e5VgwTo130_assertion wasDerivedFrom befree-2016 NP575845.RAIPZFT2aAnpbEnDa69So7farZMxwZ3LaM2lM4e5VgwTo130_provenance.
- NP575845.RAIPZFT2aAnpbEnDa69So7farZMxwZ3LaM2lM4e5VgwTo130_assertion wasGeneratedBy ECO_0000203 NP575845.RAIPZFT2aAnpbEnDa69So7farZMxwZ3LaM2lM4e5VgwTo130_provenance.
- befree-2016 importedOn "2016-02-19" NP575845.RAIPZFT2aAnpbEnDa69So7farZMxwZ3LaM2lM4e5VgwTo130_provenance.