@prefix orcid: <http://orcid.org/> .
@prefix dc: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP7336.RAmyL2chNke4elD6ByRBwcqzOkFzE_HzEgtnd3gpWWXT4> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP7336.RAmyL2chNke4elD6ByRBwcqzOkFzE_HzEgtnd3gpWWXT4130_head {
  this: np:hasAssertion dgn-np:NP7336.RAmyL2chNke4elD6ByRBwcqzOkFzE_HzEgtnd3gpWWXT4130_assertion;
    np:hasProvenance dgn-np:NP7336.RAmyL2chNke4elD6ByRBwcqzOkFzE_HzEgtnd3gpWWXT4130_provenance;
    np:hasPublicationInfo dgn-np:NP7336.RAmyL2chNke4elD6ByRBwcqzOkFzE_HzEgtnd3gpWWXT4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP7336.RAmyL2chNke4elD6ByRBwcqzOkFzE_HzEgtnd3gpWWXT4130_assertion a np:Assertion .
  
  dgn-np:NP7336.RAmyL2chNke4elD6ByRBwcqzOkFzE_HzEgtnd3gpWWXT4130_provenance a np:Provenance .
  
  dgn-np:NP7336.RAmyL2chNke4elD6ByRBwcqzOkFzE_HzEgtnd3gpWWXT4130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP7336.RAmyL2chNke4elD6ByRBwcqzOkFzE_HzEgtnd3gpWWXT4130_assertion {
  miriam-gene:22953 a ncit:C16612 .
  
  lld:C1842371 a ncit:C7057 .
  
  dgn-gda:DGN9730e0eb49b3360e3c3a8cbc36f9497a sio:SIO_000628 miriam-gene:22953, lld:C1842371;
    a sio:SIO_001122 .
}

dgn-np:NP7336.RAmyL2chNke4elD6ByRBwcqzOkFzE_HzEgtnd3gpWWXT4130_provenance {
  dgn-np:NP7336.RAmyL2chNke4elD6ByRBwcqzOkFzE_HzEgtnd3gpWWXT4130_assertion dc:description
      "[Genomic analysis of dominantly inherited, progressive sensorineural hearing loss DFNA41 in a six-generation kindred revealed a rare heterozygous allele, P2RX2 c.178G &gt; T (p.V60L), at chr12:133,196,029, which cosegregated with fully penetrant hearing loss in the index family, and also appeared in a second family with the same phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:23345450;
    prov:wasDerivedFrom dgn-void:uniprot-2016;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date .
}

dgn-np:NP7336.RAmyL2chNke4elD6ByRBwcqzOkFzE_HzEgtnd3gpWWXT4130_publicationInfo {
  this: dc:created "2016-05-13T12:41:53+02:00"^^xsd:dateTime;
    dc:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dc:rightsHolder dgn-void:IBIGroup;
    dc: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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}