@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:NP663679.RAIhxp4xqFC7tDo-SOxL99LB3HY30UL0TZHm7kDztaH_M130_head { this: np:hasAssertion dgn-np:NP663679.RAIhxp4xqFC7tDo-SOxL99LB3HY30UL0TZHm7kDztaH_M130_assertion; np:hasProvenance dgn-np:NP663679.RAIhxp4xqFC7tDo-SOxL99LB3HY30UL0TZHm7kDztaH_M130_provenance; np:hasPublicationInfo dgn-np:NP663679.RAIhxp4xqFC7tDo-SOxL99LB3HY30UL0TZHm7kDztaH_M130_publicationInfo; a np:Nanopublication . dgn-np:NP663679.RAIhxp4xqFC7tDo-SOxL99LB3HY30UL0TZHm7kDztaH_M130_assertion a np:Assertion . dgn-np:NP663679.RAIhxp4xqFC7tDo-SOxL99LB3HY30UL0TZHm7kDztaH_M130_provenance a np:Provenance . dgn-np:NP663679.RAIhxp4xqFC7tDo-SOxL99LB3HY30UL0TZHm7kDztaH_M130_publicationInfo a np:PublicationInfo . } dgn-np:NP663679.RAIhxp4xqFC7tDo-SOxL99LB3HY30UL0TZHm7kDztaH_M130_assertion { miriam-gene:1896 a ncit:C16612 . lld:C0020678 a ncit:C7057 . dgn-gda:DGNa27e924b35e5f0db583000a0eaf23faa sio:SIO_000628 miriam-gene:1896, lld:C0020678; a sio:SIO_001121 . } dgn-np:NP663679.RAIhxp4xqFC7tDo-SOxL99LB3HY30UL0TZHm7kDztaH_M130_provenance { dgn-np:NP663679.RAIhxp4xqFC7tDo-SOxL99LB3HY30UL0TZHm7kDztaH_M130_assertion dcterms:description "[Patients with defective ectodysplasin A (EDA) have X-linked hypohidrotic ectodermal dysplasia (XLHED; OMIM#305100), a condition comprising hypotrichosis, inability to sweat, abnormal teeth, and frequent pulmonary infections.]. 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:19533784; 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:NP663679.RAIhxp4xqFC7tDo-SOxL99LB3HY30UL0TZHm7kDztaH_M130_publicationInfo { this: dcterms:created "2014-10-02T12:38:41+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" . }