@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:NP776947.RA5uCywCRN-oLRrMRWL3Y4rlqcsSTKxzyHPkBgowOXPA8130_head { this: np:hasAssertion dgn-np:NP776947.RA5uCywCRN-oLRrMRWL3Y4rlqcsSTKxzyHPkBgowOXPA8130_assertion; np:hasProvenance dgn-np:NP776947.RA5uCywCRN-oLRrMRWL3Y4rlqcsSTKxzyHPkBgowOXPA8130_provenance; np:hasPublicationInfo dgn-np:NP776947.RA5uCywCRN-oLRrMRWL3Y4rlqcsSTKxzyHPkBgowOXPA8130_publicationInfo; a np:Nanopublication . dgn-np:NP776947.RA5uCywCRN-oLRrMRWL3Y4rlqcsSTKxzyHPkBgowOXPA8130_assertion a np:Assertion . dgn-np:NP776947.RA5uCywCRN-oLRrMRWL3Y4rlqcsSTKxzyHPkBgowOXPA8130_provenance a np:Provenance . dgn-np:NP776947.RA5uCywCRN-oLRrMRWL3Y4rlqcsSTKxzyHPkBgowOXPA8130_publicationInfo a np:PublicationInfo . } dgn-np:NP776947.RA5uCywCRN-oLRrMRWL3Y4rlqcsSTKxzyHPkBgowOXPA8130_assertion { miriam-gene:7466 a ncit:C16612 . lld:C0271514 a ncit:C7057 . dgn-gda:DGN6bc9273b54b4cc15b128bb2309adc015 sio:SIO_000628 miriam-gene:7466, lld:C0271514; a sio:SIO_001122 . } dgn-np:NP776947.RA5uCywCRN-oLRrMRWL3Y4rlqcsSTKxzyHPkBgowOXPA8130_provenance { dgn-np:NP776947.RA5uCywCRN-oLRrMRWL3Y4rlqcsSTKxzyHPkBgowOXPA8130_assertion dcterms:description "[Unusual phenotypes in autosomal dominant forms of deafness, include low frequency hearing loss in DFNA1 (HDIA1) and DFNA6/14/38 (WFS1), mid-frequency hearing loss in DFNA8/12 (TECTA), DFNA13 (COL11A2) and vestibular symptoms and signs in DFNA9 (COCH) and sometimes in DFNA11 (MYO7A).]. 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:12324385; 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:NP776947.RA5uCywCRN-oLRrMRWL3Y4rlqcsSTKxzyHPkBgowOXPA8130_publicationInfo { this: dcterms:created "2015-08-25T14:45:29+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }