@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:NP46641.RA-G1VWuuUP57FlXoZZQDtwbHD5J9fU9dZrcPBm_45ow0130_head { this: np:hasAssertion dgn-np:NP46641.RA-G1VWuuUP57FlXoZZQDtwbHD5J9fU9dZrcPBm_45ow0130_assertion; np:hasProvenance dgn-np:NP46641.RA-G1VWuuUP57FlXoZZQDtwbHD5J9fU9dZrcPBm_45ow0130_provenance; np:hasPublicationInfo dgn-np:NP46641.RA-G1VWuuUP57FlXoZZQDtwbHD5J9fU9dZrcPBm_45ow0130_publicationInfo; a np:Nanopublication . dgn-np:NP46641.RA-G1VWuuUP57FlXoZZQDtwbHD5J9fU9dZrcPBm_45ow0130_assertion a np:Assertion . dgn-np:NP46641.RA-G1VWuuUP57FlXoZZQDtwbHD5J9fU9dZrcPBm_45ow0130_provenance a np:Provenance . dgn-np:NP46641.RA-G1VWuuUP57FlXoZZQDtwbHD5J9fU9dZrcPBm_45ow0130_publicationInfo a np:PublicationInfo . } dgn-np:NP46641.RA-G1VWuuUP57FlXoZZQDtwbHD5J9fU9dZrcPBm_45ow0130_assertion { miriam-gene:1299 a ncit:C16612 . lld:C0029408 a ncit:C7057 . dgn-gda:DGN93edc904cfed7bffdb220c1492ed7b2c sio:SIO_000628 miriam-gene:1299, lld:C0029408; a sio:SIO_001122 . } dgn-np:NP46641.RA-G1VWuuUP57FlXoZZQDtwbHD5J9fU9dZrcPBm_45ow0130_provenance { dgn-np:NP46641.RA-G1VWuuUP57FlXoZZQDtwbHD5J9fU9dZrcPBm_45ow0130_assertion dcterms:description "[ Early-onset OA demonstrates locus and allelic heterogeneity since the identified variations were in three different collagen genes and each of the six probands had a different mutation. It is also possible that some OA cases represent the mild end of the chondrodysplasia phenotypic spectrum. The major susceptibility alleles in this form of OA, however, remain to be identified.]. 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:15922184; 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:NP46641.RA-G1VWuuUP57FlXoZZQDtwbHD5J9fU9dZrcPBm_45ow0130_publicationInfo { this: dcterms:created "2014-10-02T12:32:21+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" . }