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 .
}