@prefix bfo: . @prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP273471.RAvEriotktn2SIoNi2hmiJ-RZatmYR7jdBnwgz88IdCjA130_head { this: np:hasAssertion dgn-np:NP273471.RAvEriotktn2SIoNi2hmiJ-RZatmYR7jdBnwgz88IdCjA130_assertion; np:hasProvenance dgn-np:NP273471.RAvEriotktn2SIoNi2hmiJ-RZatmYR7jdBnwgz88IdCjA130_provenance; np:hasPublicationInfo dgn-np:NP273471.RAvEriotktn2SIoNi2hmiJ-RZatmYR7jdBnwgz88IdCjA130_publicationInfo; a np:Nanopublication . dgn-np:NP273471.RAvEriotktn2SIoNi2hmiJ-RZatmYR7jdBnwgz88IdCjA130_assertion a np:Assertion . dgn-np:NP273471.RAvEriotktn2SIoNi2hmiJ-RZatmYR7jdBnwgz88IdCjA130_provenance a np:Provenance . dgn-np:NP273471.RAvEriotktn2SIoNi2hmiJ-RZatmYR7jdBnwgz88IdCjA130_publicationInfo a np:PublicationInfo . } dgn-np:NP273471.RAvEriotktn2SIoNi2hmiJ-RZatmYR7jdBnwgz88IdCjA130_assertion { miriam-gene:3273 a ncit:C16612 . lld:C0398623 a ncit:C7057 . dgn-gda:DGNe76b3b551a579418980b96dd004f5b70 sio:SIO_000628 miriam-gene:3273, lld:C0398623; a sio:SIO_001121 . } dgn-np:NP273471.RAvEriotktn2SIoNi2hmiJ-RZatmYR7jdBnwgz88IdCjA130_provenance { dgn-np:NP273471.RAvEriotktn2SIoNi2hmiJ-RZatmYR7jdBnwgz88IdCjA130_assertion dcterms:description "[Single defects comprised established causes of inherited thrombophilia: FV:Q506 (homozygous n = 10, heterozygous n = 69), protein C (homozygous n = 1; heterozygous n = 31), heterozygous type I deficiency states of protein S (n = 7), antithrombin (n = 7) and homocystinuria (n = 6); potentially inherited clotting abnormalities which may be associated with thrombophilia: F.XII (n = 3), plasminogen (n = 2), HCII (n = 1), increased HRGP (n = 4); new candidate risk factors for thrombophilia: elevated plasma levels of Lp(a) (n = 26), F.II (n = 1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:10650845; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy bfo:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a bfo:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP273471.RAvEriotktn2SIoNi2hmiJ-RZatmYR7jdBnwgz88IdCjA130_publicationInfo { this: dcterms:created "2016-05-13T12:43:49+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }