@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:NP705967.RA10ilATz-r3Sr5Tlw-f_u6zai_b80YCq-j2x9e0eBpzA130_head { this: np:hasAssertion dgn-np:NP705967.RA10ilATz-r3Sr5Tlw-f_u6zai_b80YCq-j2x9e0eBpzA130_assertion; np:hasProvenance dgn-np:NP705967.RA10ilATz-r3Sr5Tlw-f_u6zai_b80YCq-j2x9e0eBpzA130_provenance; np:hasPublicationInfo dgn-np:NP705967.RA10ilATz-r3Sr5Tlw-f_u6zai_b80YCq-j2x9e0eBpzA130_publicationInfo; a np:Nanopublication . dgn-np:NP705967.RA10ilATz-r3Sr5Tlw-f_u6zai_b80YCq-j2x9e0eBpzA130_assertion a np:Assertion . dgn-np:NP705967.RA10ilATz-r3Sr5Tlw-f_u6zai_b80YCq-j2x9e0eBpzA130_provenance a np:Provenance . dgn-np:NP705967.RA10ilATz-r3Sr5Tlw-f_u6zai_b80YCq-j2x9e0eBpzA130_publicationInfo a np:PublicationInfo . } dgn-np:NP705967.RA10ilATz-r3Sr5Tlw-f_u6zai_b80YCq-j2x9e0eBpzA130_assertion { miriam-gene:6774 a ncit:C16612 . lld:C0021051 a ncit:C7057 . dgn-gda:DGN66b7f5bb003d175bd4cf945f5cc78762 sio:SIO_000628 miriam-gene:6774, lld:C0021051; a sio:SIO_001121 . } dgn-np:NP705967.RA10ilATz-r3Sr5Tlw-f_u6zai_b80YCq-j2x9e0eBpzA130_provenance { dgn-np:NP705967.RA10ilATz-r3Sr5Tlw-f_u6zai_b80YCq-j2x9e0eBpzA130_assertion dcterms:description "[Autosomal dominant hyper IgE (HIES or Job's) syndrome is a rare primary immune deficiency characterized by eczema, recurrent skin and lung infections, extremely elevated serum IgE, and a variety of connective tissue and skeletal abnormalities.]. 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:19036057; 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:NP705967.RA10ilATz-r3Sr5Tlw-f_u6zai_b80YCq-j2x9e0eBpzA130_publicationInfo { this: dcterms:created "2016-05-13T12:47:05+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" . }