@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:NP19596.RAtly_fccyO6_HjqQRkz1pzj96uAvSzIztTkuRpKP6h5A130_head { this: np:hasAssertion dgn-np:NP19596.RAtly_fccyO6_HjqQRkz1pzj96uAvSzIztTkuRpKP6h5A130_assertion; np:hasProvenance dgn-np:NP19596.RAtly_fccyO6_HjqQRkz1pzj96uAvSzIztTkuRpKP6h5A130_provenance; np:hasPublicationInfo dgn-np:NP19596.RAtly_fccyO6_HjqQRkz1pzj96uAvSzIztTkuRpKP6h5A130_publicationInfo; a np:Nanopublication . dgn-np:NP19596.RAtly_fccyO6_HjqQRkz1pzj96uAvSzIztTkuRpKP6h5A130_assertion a np:Assertion . dgn-np:NP19596.RAtly_fccyO6_HjqQRkz1pzj96uAvSzIztTkuRpKP6h5A130_provenance a np:Provenance . dgn-np:NP19596.RAtly_fccyO6_HjqQRkz1pzj96uAvSzIztTkuRpKP6h5A130_publicationInfo a np:PublicationInfo . } dgn-np:NP19596.RAtly_fccyO6_HjqQRkz1pzj96uAvSzIztTkuRpKP6h5A130_assertion { miriam-gene:8807 a ncit:C16612 . lld:C0021390 a ncit:C7057 . dgn-gda:DGN741938924eac6eb52ad3b2061799b854 sio:SIO_000628 miriam-gene:8807, lld:C0021390; a sio:SIO_001121 . } dgn-np:NP19596.RAtly_fccyO6_HjqQRkz1pzj96uAvSzIztTkuRpKP6h5A130_provenance { dgn-np:NP19596.RAtly_fccyO6_HjqQRkz1pzj96uAvSzIztTkuRpKP6h5A130_assertion dcterms:description "[Through follow-up genotyping of 70 rare and low-frequency protein-altering variants in nine independent case-control series (16,054 Crohn's disease cases, 12,153 ulcerative colitis cases and 17,575 healthy controls), we identified four additional independent risk factors in NOD2, two additional protective variants in IL23R, a highly significant association with a protective splice variant in CARD9 (P < 1 10(-16), odds ratio 0.29) and additional associations with coding variants in IL18RAP, CUL2, C1orf106, PTPN22 and MUC19.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:21983784; prov:wasDerivedFrom dgn-void:ctd_human-20130708; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . } dgn-np:NP19596.RAtly_fccyO6_HjqQRkz1pzj96uAvSzIztTkuRpKP6h5A130_publicationInfo { this: dcterms:created "2014-10-02T12:32:07+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" . }