@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:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_head { this: np:hasAssertion dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_assertion; np:hasProvenance dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_provenance; np:hasPublicationInfo dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_publicationInfo; a np:Nanopublication . dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_assertion a np:Assertion . dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_provenance a np:Provenance . dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_publicationInfo a np:PublicationInfo . } dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_assertion { miriam-gene:1896 a ncit:C16612 . lld:C0162359 a ncit:C7057 . dgn-gda:DGNcc2630f14cbfa257ae3fa4fb6b7efe80 sio:SIO_000628 miriam-gene:1896, lld:C0162359; a sio:SIO_001121 . } dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_provenance { dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_assertion dcterms:description "[Mutations in the gene encoding the ligand ectodysplasin A (EDA) underlie classic, X-linked recessive HED, whereas mutations in the genes encoding the EDA receptor and (less frequently) the adaptor protein that associates with the EDA receptor's death domain result in autosomal dominant and autosomal recessive forms of HED.]. 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:19061621; 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:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_publicationInfo { this: dcterms:created "2016-05-13T12:47:06+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" . }