@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:NP493331.RAuEpYn2n-tZ8L2rr4A9Mv0TzYNFE43QKmq2VqeDARZv0130_head { this: np:hasAssertion dgn-np:NP493331.RAuEpYn2n-tZ8L2rr4A9Mv0TzYNFE43QKmq2VqeDARZv0130_assertion; np:hasProvenance dgn-np:NP493331.RAuEpYn2n-tZ8L2rr4A9Mv0TzYNFE43QKmq2VqeDARZv0130_provenance; np:hasPublicationInfo dgn-np:NP493331.RAuEpYn2n-tZ8L2rr4A9Mv0TzYNFE43QKmq2VqeDARZv0130_publicationInfo; a np:Nanopublication . dgn-np:NP493331.RAuEpYn2n-tZ8L2rr4A9Mv0TzYNFE43QKmq2VqeDARZv0130_assertion a np:Assertion . dgn-np:NP493331.RAuEpYn2n-tZ8L2rr4A9Mv0TzYNFE43QKmq2VqeDARZv0130_provenance a np:Provenance . dgn-np:NP493331.RAuEpYn2n-tZ8L2rr4A9Mv0TzYNFE43QKmq2VqeDARZv0130_publicationInfo a np:PublicationInfo . } dgn-np:NP493331.RAuEpYn2n-tZ8L2rr4A9Mv0TzYNFE43QKmq2VqeDARZv0130_assertion { miriam-gene:26191 a ncit:C16612 . lld:C0003873 a ncit:C7057 . dgn-gda:DGN612fcd44c2e1b6690542ec556b1175d8 sio:SIO_000628 miriam-gene:26191, lld:C0003873; a sio:SIO_001121 . } dgn-np:NP493331.RAuEpYn2n-tZ8L2rr4A9Mv0TzYNFE43QKmq2VqeDARZv0130_provenance { dgn-np:NP493331.RAuEpYn2n-tZ8L2rr4A9Mv0TzYNFE43QKmq2VqeDARZv0130_assertion dcterms:description "[The PTPN22 variant was strongly associated with T1D in cases vs controls (P=2 x 10(-7), OR=2.3, 95% CI=1.7-3.1) as well as in a transmission disequilibrium test in nuclear trio's (P=9 x 10(-9), OR=3.3, CI=2.1-5.0), RA (case/control: P=0.003, OR=1.8 CI =1.2-2.6), but not CD, in spite of a trend of increased homozygosity (P=0.05) and early age at onset (P=0.01).]. 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:15875058; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP493331.RAuEpYn2n-tZ8L2rr4A9Mv0TzYNFE43QKmq2VqeDARZv0130_publicationInfo { this: dcterms:created "2016-05-13T12:45:28+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" . }