@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:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_head { this: np:hasAssertion dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_assertion; np:hasProvenance dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_provenance; np:hasPublicationInfo dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_publicationInfo; a np:Nanopublication . dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_assertion a np:Assertion . dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_provenance a np:Provenance . dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_publicationInfo a np:PublicationInfo . } dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_assertion { miriam-gene:3549 a ncit:C16612 . lld:C0221357 a ncit:C7057 . dgn-gda:DGN4ae14bdbe8612698e33e97a0097d2fd2 sio:SIO_000628 miriam-gene:3549, lld:C0221357; a sio:SIO_001121 . } dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_provenance { dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_assertion dcterms:description "[Brachydactyly A1 (BDA1) is an autosomal dominant disorder characterized by shortness of all middle phalanges of the hands and toes, shortness of the proximal phalanges of the first digit, and short stature.]. 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:20683927; 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:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_publicationInfo { this: dcterms:created "2016-05-13T12:48:01+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" . }