@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:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_head {
this: np:hasAssertion dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_assertion;
np:hasProvenance dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_provenance;
np:hasPublicationInfo dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_publicationInfo;
a np:Nanopublication .
dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_assertion a np:Assertion .
dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_provenance a np:Provenance .
dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_publicationInfo a
np:PublicationInfo .
}
dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_assertion {
miriam-gene:5624 a ncit:C16612 .
lld:C0206677 a ncit:C7057 .
dgn-gda:DGNee0d15a272415d3a4087fdd47df6634c sio:SIO_000628 miriam-gene:5624, lld:C0206677;
a sio:SIO_001121 .
}
dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_provenance {
dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_assertion dcterms:description
"[Germline mutations (nonsense, frameshift) of APC are associated with familial adenomatous polyposis, an autosomal dominant syndrome, clinically characterized by young onset, hundreds of adenomatous polyps in the colon, and increased risk for extracolonic tumors.]. 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:10630180;
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:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_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" .
}