@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:NP952444.RA6nOYd_ab3bFJM3p1pj_AxpVdNvYmxqg-Vgu65jE4VlQ130_head { this: np:hasAssertion dgn-np:NP952444.RA6nOYd_ab3bFJM3p1pj_AxpVdNvYmxqg-Vgu65jE4VlQ130_assertion; np:hasProvenance dgn-np:NP952444.RA6nOYd_ab3bFJM3p1pj_AxpVdNvYmxqg-Vgu65jE4VlQ130_provenance; np:hasPublicationInfo dgn-np:NP952444.RA6nOYd_ab3bFJM3p1pj_AxpVdNvYmxqg-Vgu65jE4VlQ130_publicationInfo; a np:Nanopublication . dgn-np:NP952444.RA6nOYd_ab3bFJM3p1pj_AxpVdNvYmxqg-Vgu65jE4VlQ130_assertion a np:Assertion . dgn-np:NP952444.RA6nOYd_ab3bFJM3p1pj_AxpVdNvYmxqg-Vgu65jE4VlQ130_provenance a np:Provenance . dgn-np:NP952444.RA6nOYd_ab3bFJM3p1pj_AxpVdNvYmxqg-Vgu65jE4VlQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP952444.RA6nOYd_ab3bFJM3p1pj_AxpVdNvYmxqg-Vgu65jE4VlQ130_assertion { miriam-gene:81704 a ncit:C16612 . lld:C1968689 a ncit:C7057 . dgn-gda:DGN02fa9e1e686393b281b8c46b9f73b393 sio:SIO_000628 miriam-gene:81704, lld:C1968689; a sio:SIO_001121 . } dgn-np:NP952444.RA6nOYd_ab3bFJM3p1pj_AxpVdNvYmxqg-Vgu65jE4VlQ130_provenance { dgn-np:NP952444.RA6nOYd_ab3bFJM3p1pj_AxpVdNvYmxqg-Vgu65jE4VlQ130_assertion dcterms:description "[The discovery that loss-of-function mutations in the gene DOCK8 are responsible for most forms of autosomal recessive hyper-IgE syndrome and some forms of combined immunodeficiency without elevated serum IgE has led to studies into the immunopathogenesis of this disease.]. 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:22236427; 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:NP952444.RA6nOYd_ab3bFJM3p1pj_AxpVdNvYmxqg-Vgu65jE4VlQ130_publicationInfo { this: dcterms:created "2016-05-13T12:48:56+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" . }