@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP47799.RAyITkqf55yabHjuZyb8SmgDMTNG9GUBcOrNxqG-OHmB0130_head { this: np:hasAssertion dgn-np:NP47799.RAyITkqf55yabHjuZyb8SmgDMTNG9GUBcOrNxqG-OHmB0130_assertion; np:hasProvenance dgn-np:NP47799.RAyITkqf55yabHjuZyb8SmgDMTNG9GUBcOrNxqG-OHmB0130_provenance; np:hasPublicationInfo dgn-np:NP47799.RAyITkqf55yabHjuZyb8SmgDMTNG9GUBcOrNxqG-OHmB0130_publicationInfo; a np:Nanopublication . dgn-np:NP47799.RAyITkqf55yabHjuZyb8SmgDMTNG9GUBcOrNxqG-OHmB0130_assertion a np:Assertion . dgn-np:NP47799.RAyITkqf55yabHjuZyb8SmgDMTNG9GUBcOrNxqG-OHmB0130_provenance a np:Provenance . dgn-np:NP47799.RAyITkqf55yabHjuZyb8SmgDMTNG9GUBcOrNxqG-OHmB0130_publicationInfo a np:PublicationInfo . } dgn-np:NP47799.RAyITkqf55yabHjuZyb8SmgDMTNG9GUBcOrNxqG-OHmB0130_assertion { miriam-gene:659 a ncit:C16612 . lld:C0345893 a ncit:C7057 . dgn-gda:DGNf61217495d7e580ad32fb8146ef6eb6d sio:SIO_000628 miriam-gene:659, lld:C0345893; a sio:SIO_001122 . } dgn-np:NP47799.RAyITkqf55yabHjuZyb8SmgDMTNG9GUBcOrNxqG-OHmB0130_provenance { dgn-np:NP47799.RAyITkqf55yabHjuZyb8SmgDMTNG9GUBcOrNxqG-OHmB0130_assertion dcterms:description "[In the largest series of JP patients reported to date, the prevalence of germline MADH4 and BMPR1A mutations is approximately 20% for each gene. Since mutations were not found in more than half the JP patients, either additional genes predisposing to JP remain to be discovered, or alternate means of inactivation of the two known genes are responsible for these JP cases.]. 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:15235019; prov:wasDerivedFrom dgn-void:gad-20130706; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP47799.RAyITkqf55yabHjuZyb8SmgDMTNG9GUBcOrNxqG-OHmB0130_publicationInfo { this: dcterms:created "2014-10-02T12:32:22+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }