@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:NP1318206.RAwstxLZv3P0y1xtvv6IE3R4-KGKZF07E5xZZWwpsp6Ro130_head { this: np:hasAssertion dgn-np:NP1318206.RAwstxLZv3P0y1xtvv6IE3R4-KGKZF07E5xZZWwpsp6Ro130_assertion; np:hasProvenance dgn-np:NP1318206.RAwstxLZv3P0y1xtvv6IE3R4-KGKZF07E5xZZWwpsp6Ro130_provenance; np:hasPublicationInfo dgn-np:NP1318206.RAwstxLZv3P0y1xtvv6IE3R4-KGKZF07E5xZZWwpsp6Ro130_publicationInfo; a np:Nanopublication . dgn-np:NP1318206.RAwstxLZv3P0y1xtvv6IE3R4-KGKZF07E5xZZWwpsp6Ro130_assertion a np:Assertion . dgn-np:NP1318206.RAwstxLZv3P0y1xtvv6IE3R4-KGKZF07E5xZZWwpsp6Ro130_provenance a np:Provenance . dgn-np:NP1318206.RAwstxLZv3P0y1xtvv6IE3R4-KGKZF07E5xZZWwpsp6Ro130_publicationInfo a np:PublicationInfo . } dgn-np:NP1318206.RAwstxLZv3P0y1xtvv6IE3R4-KGKZF07E5xZZWwpsp6Ro130_assertion { miriam-gene:3047 a ncit:C16612 . lld:C0019025 a ncit:C7057 . dgn-gda:DGN4df53812f1a561a3c27eb598a25288a1 sio:SIO_000628 miriam-gene:3047, lld:C0019025; a sio:SIO_001122 . } dgn-np:NP1318206.RAwstxLZv3P0y1xtvv6IE3R4-KGKZF07E5xZZWwpsp6Ro130_provenance { dgn-np:NP1318206.RAwstxLZv3P0y1xtvv6IE3R4-KGKZF07E5xZZWwpsp6Ro130_assertion dcterms:description "[The -198 T-->C and the -175 T-->C transitions involving the proximal gamma-globin gene promoter are associated with the hereditary persistence of fetal hemoglobin (HPFH) phenotype and have been demonstrated to increase promoter activity in erythroid cells using transient and stable transfection systems.]. 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:7686501; 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:NP1318206.RAwstxLZv3P0y1xtvv6IE3R4-KGKZF07E5xZZWwpsp6Ro130_publicationInfo { this: dcterms:created "2016-05-13T12:51:44+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" . }