http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k130_head http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k130_assertion http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k130_provenance http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k130_assertion http://identifiers.org/ncbigene/3777 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/C3714844 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/DGNfa28b2c4e07d613091775799ac9fee80 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3777 http://rdf.disgenet.org/resource/gda/DGNfa28b2c4e07d613091775799ac9fee80 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3714844 http://rdf.disgenet.org/resource/gda/DGNfa28b2c4e07d613091775799ac9fee80 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k130_provenance http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k130_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/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k130_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/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25159282 http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k130_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/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k http://purl.org/dc/terms/created 2016-05-13T12:50:56+02:00 http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1214039.RATA8EV_I2jTNoV9RLPOA0fII6z7s7VVrYNOqYKRq_P4k 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