http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0130_head http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0130_assertion http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0130_provenance http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0130_assertion http://identifiers.org/ncbigene/659 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C2973725 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN15577bf7bc3296e58363997edefb3033 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/659 http://rdf.disgenet.org/resource/gda/DGN15577bf7bc3296e58363997edefb3033 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2973725 http://rdf.disgenet.org/resource/gda/DGN15577bf7bc3296e58363997edefb3033 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0130_provenance http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0130_assertion http://purl.org/dc/terms/description [Since the landmark discovery that bone morphogenetic protein receptor type II (BMPR2) mutations cause the majority of cases of familial PAH, investigators have discovered mutations in genes that cause PAH in families without BMPR2 mutations, including the type I receptor ACVRL1 and the type III receptor ENG (both associated with hereditary hemorrhagic telangiectasia), caveolin-1 (CAV1), and a gene (KCNK3) encoding a two-pore potassium channel.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25159282 http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0 http://purl.org/dc/terms/created 2016-05-13T12:50:56+02:00 http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1214053.RArx0JEPaLbLFgwYIoCWd7YtBA1T7KzCPXDio1cm4pUk0 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0