@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:NP350633.RACp11Sm2ixvL4PyKKT18bCafd60TPO756o3sFbB3cTe8130_head { this: np:hasAssertion dgn-np:NP350633.RACp11Sm2ixvL4PyKKT18bCafd60TPO756o3sFbB3cTe8130_assertion; np:hasProvenance dgn-np:NP350633.RACp11Sm2ixvL4PyKKT18bCafd60TPO756o3sFbB3cTe8130_provenance; np:hasPublicationInfo dgn-np:NP350633.RACp11Sm2ixvL4PyKKT18bCafd60TPO756o3sFbB3cTe8130_publicationInfo; a np:Nanopublication . dgn-np:NP350633.RACp11Sm2ixvL4PyKKT18bCafd60TPO756o3sFbB3cTe8130_assertion a np:Assertion . dgn-np:NP350633.RACp11Sm2ixvL4PyKKT18bCafd60TPO756o3sFbB3cTe8130_provenance a np:Provenance . dgn-np:NP350633.RACp11Sm2ixvL4PyKKT18bCafd60TPO756o3sFbB3cTe8130_publicationInfo a np:PublicationInfo . } dgn-np:NP350633.RACp11Sm2ixvL4PyKKT18bCafd60TPO756o3sFbB3cTe8130_assertion { miriam-gene:2131 a ncit:C16612 . lld:C0206641 a ncit:C7057 . dgn-gda:DGN0b21d361528ae6af4bca9c550834de63 sio:SIO_000628 miriam-gene:2131, lld:C0206641; a sio:SIO_001121 . } dgn-np:NP350633.RACp11Sm2ixvL4PyKKT18bCafd60TPO756o3sFbB3cTe8130_provenance { dgn-np:NP350633.RACp11Sm2ixvL4PyKKT18bCafd60TPO756o3sFbB3cTe8130_assertion dcterms:description "[Multiple hereditary exostoses (MHE) is an autosomal dominant skeletal disorder caused by mutations in one of the two EXT genes and characterized by multiple osteochondromas that generally arise near the ends of growing long bones.]. 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:16476576; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP350633.RACp11Sm2ixvL4PyKKT18bCafd60TPO756o3sFbB3cTe8130_publicationInfo { this: dcterms:created "2014-10-02T12:35:26+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" . }