@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:NP871750.RA0_DsCJV0WiePN7i-nj7jIy6vmtpX0hliMYePrvUfHcI130_head { this: np:hasAssertion dgn-np:NP871750.RA0_DsCJV0WiePN7i-nj7jIy6vmtpX0hliMYePrvUfHcI130_assertion; np:hasProvenance dgn-np:NP871750.RA0_DsCJV0WiePN7i-nj7jIy6vmtpX0hliMYePrvUfHcI130_provenance; np:hasPublicationInfo dgn-np:NP871750.RA0_DsCJV0WiePN7i-nj7jIy6vmtpX0hliMYePrvUfHcI130_publicationInfo; a np:Nanopublication . dgn-np:NP871750.RA0_DsCJV0WiePN7i-nj7jIy6vmtpX0hliMYePrvUfHcI130_assertion a np:Assertion . dgn-np:NP871750.RA0_DsCJV0WiePN7i-nj7jIy6vmtpX0hliMYePrvUfHcI130_provenance a np:Provenance . dgn-np:NP871750.RA0_DsCJV0WiePN7i-nj7jIy6vmtpX0hliMYePrvUfHcI130_publicationInfo a np:PublicationInfo . } dgn-np:NP871750.RA0_DsCJV0WiePN7i-nj7jIy6vmtpX0hliMYePrvUfHcI130_assertion { miriam-gene:3077 a ncit:C16612 . lld:C0008679 a ncit:C7057 . dgn-gda:DGN46d562687b1db0bc510c22dea8b4bf7a sio:SIO_000628 miriam-gene:3077, lld:C0008679; a sio:SIO_001121 . } dgn-np:NP871750.RA0_DsCJV0WiePN7i-nj7jIy6vmtpX0hliMYePrvUfHcI130_provenance { dgn-np:NP871750.RA0_DsCJV0WiePN7i-nj7jIy6vmtpX0hliMYePrvUfHcI130_assertion dcterms:description "[The substantial public health burden of HH as a common, deadly, detectable, and treatable chronic disease has led the College of American Pathologists to recommend that `systematic screening for hemochromatosis is warranted for all persons over the age of 20 years.` The recent discovery that most HH cases are the result of a single well-conserved homozygous missense mutation (C282Y) within a novel transferrin-receptor binding protein (HFE) has given rise to diagnostic clinical tests for the DNA-based detection of this pathologic mutation.]. 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:10539907; 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:NP871750.RA0_DsCJV0WiePN7i-nj7jIy6vmtpX0hliMYePrvUfHcI130_publicationInfo { this: dcterms:created "2014-10-02T12:40:53+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" . }