@prefix orcid: .
@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:NP822222.RAMlwMNPxC3ubXeXMBuxTbrgcwyNEt7Ia51A2Yok6gqFw130_head {
this: np:hasAssertion dgn-np:NP822222.RAMlwMNPxC3ubXeXMBuxTbrgcwyNEt7Ia51A2Yok6gqFw130_assertion;
np:hasProvenance dgn-np:NP822222.RAMlwMNPxC3ubXeXMBuxTbrgcwyNEt7Ia51A2Yok6gqFw130_provenance;
np:hasPublicationInfo dgn-np:NP822222.RAMlwMNPxC3ubXeXMBuxTbrgcwyNEt7Ia51A2Yok6gqFw130_publicationInfo;
a np:Nanopublication .
dgn-np:NP822222.RAMlwMNPxC3ubXeXMBuxTbrgcwyNEt7Ia51A2Yok6gqFw130_assertion a np:Assertion .
dgn-np:NP822222.RAMlwMNPxC3ubXeXMBuxTbrgcwyNEt7Ia51A2Yok6gqFw130_provenance a np:Provenance .
dgn-np:NP822222.RAMlwMNPxC3ubXeXMBuxTbrgcwyNEt7Ia51A2Yok6gqFw130_publicationInfo a
np:PublicationInfo .
}
dgn-np:NP822222.RAMlwMNPxC3ubXeXMBuxTbrgcwyNEt7Ia51A2Yok6gqFw130_assertion {
miriam-gene:9381 a ncit:C16612 .
lld:C0000768 a ncit:C7057 .
dgn-gda:DGN9e24b8d1e902b747999fc9fdacdd625c sio:SIO_000628 miriam-gene:9381, lld:C0000768;
a sio:SIO_001121 .
}
dgn-np:NP822222.RAMlwMNPxC3ubXeXMBuxTbrgcwyNEt7Ia51A2Yok6gqFw130_provenance {
dgn-np:NP822222.RAMlwMNPxC3ubXeXMBuxTbrgcwyNEt7Ia51A2Yok6gqFw130_assertion dcterms:description
"[This is illustrated by three different examples: (1) the DFNB9 deafness form, a synaptopathy of the cochlear sensory cells where otoferlin is defective; (2) the Usher syndrome, in which deafness is related to abnormal development of the hair bundle, the mechanoreceptive structure of the sensory cells to sound; (3) the DFNB1 deafness form, which is the most common form of inherited deafness in Caucasian populations, mainly caused by connexin-26 defects that alter gap junction communication between nonsensory cochlear cells.]. 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:19186249;
prov:wasDerivedFrom dgn-void:befree-20150227;
prov:wasGeneratedBy eco:ECO_0000203 .
dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP822222.RAMlwMNPxC3ubXeXMBuxTbrgcwyNEt7Ia51A2Yok6gqFw130_publicationInfo {
this: dcterms:created "2015-08-25T14:45:58+02:00"^^xsd:dateTime;
dcterms:rights ;
dcterms:rightsHolder dgn-void:IBIGroup;
dcterms:subject sio:SIO_000983;
prv:usedData dgn-void:disgenetv3.0rdf;
pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
pav:createdBy orcid:0000-0003-0169-8159;
pav:version "v3.0.0.0" .
dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}