http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8130_head
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8130_assertion
http://identifiers.org/ncbigene/2022
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/DGN7378dd08564314ca3fcbc209cb91645d
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2022
http://rdf.disgenet.org/resource/gda/DGN7378dd08564314ca3fcbc209cb91645d
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C2973725
http://rdf.disgenet.org/resource/gda/DGN7378dd08564314ca3fcbc209cb91645d
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8130_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/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8130_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/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25159282
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8130_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/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8
http://purl.org/dc/terms/created
2016-05-13T12:50:56+02:00
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1214046.RACqyJdgtmCOJZqOBGeV3UoelCzHzaM9WAkJgsG3UpjE8
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