Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP14748.RAlOIL0r2Z0uhCCd5j7x0RoozR_O2QPUWcL_5xOctq92w130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP14748.RAlOIL0r2Z0uhCCd5j7x0RoozR_O2QPUWcL_5xOctq92w130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP14748.RAlOIL0r2Z0uhCCd5j7x0RoozR_O2QPUWcL_5xOctq92w130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP14748.RAlOIL0r2Z0uhCCd5j7x0RoozR_O2QPUWcL_5xOctq92w130_provenance.
- NP14748.RAlOIL0r2Z0uhCCd5j7x0RoozR_O2QPUWcL_5xOctq92w130_assertion description "[ENG and ACVRL1 genes code for proteins involved in the transforming growth factor beta pathway and it is widely accepted that haploinsufficiency is the origin for the pathogenicity of HHT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP14748.RAlOIL0r2Z0uhCCd5j7x0RoozR_O2QPUWcL_5xOctq92w130_provenance.
- NP14748.RAlOIL0r2Z0uhCCd5j7x0RoozR_O2QPUWcL_5xOctq92w130_assertion evidence source_evidence_curated NP14748.RAlOIL0r2Z0uhCCd5j7x0RoozR_O2QPUWcL_5xOctq92w130_provenance.
- NP14748.RAlOIL0r2Z0uhCCd5j7x0RoozR_O2QPUWcL_5xOctq92w130_assertion SIO_000772 20135064 NP14748.RAlOIL0r2Z0uhCCd5j7x0RoozR_O2QPUWcL_5xOctq92w130_provenance.
- NP14748.RAlOIL0r2Z0uhCCd5j7x0RoozR_O2QPUWcL_5xOctq92w130_assertion wasDerivedFrom ctd_human-20130708 NP14748.RAlOIL0r2Z0uhCCd5j7x0RoozR_O2QPUWcL_5xOctq92w130_provenance.
- NP14748.RAlOIL0r2Z0uhCCd5j7x0RoozR_O2QPUWcL_5xOctq92w130_assertion wasGeneratedBy ECO_0000218 NP14748.RAlOIL0r2Z0uhCCd5j7x0RoozR_O2QPUWcL_5xOctq92w130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP14748.RAlOIL0r2Z0uhCCd5j7x0RoozR_O2QPUWcL_5xOctq92w130_provenance.