@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP693311.RA5_8YqZk2UgYdp6TDeFeOsuSbUb7wtaLrwJsnUs0md6A
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP693311.RA5_8YqZk2UgYdp6TDeFeOsuSbUb7wtaLrwJsnUs0md6A130_head
{
this:
np:hasAssertion
dgn-np:NP693311.RA5_8YqZk2UgYdp6TDeFeOsuSbUb7wtaLrwJsnUs0md6A130_assertion
;
np:hasProvenance
dgn-np:NP693311.RA5_8YqZk2UgYdp6TDeFeOsuSbUb7wtaLrwJsnUs0md6A130_provenance
;
np:hasPublicationInfo
dgn-np:NP693311.RA5_8YqZk2UgYdp6TDeFeOsuSbUb7wtaLrwJsnUs0md6A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP693311.RA5_8YqZk2UgYdp6TDeFeOsuSbUb7wtaLrwJsnUs0md6A130_assertion
a
np:Assertion
.
dgn-np:NP693311.RA5_8YqZk2UgYdp6TDeFeOsuSbUb7wtaLrwJsnUs0md6A130_provenance
a
np:Provenance
.
dgn-np:NP693311.RA5_8YqZk2UgYdp6TDeFeOsuSbUb7wtaLrwJsnUs0md6A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP693311.RA5_8YqZk2UgYdp6TDeFeOsuSbUb7wtaLrwJsnUs0md6A130_assertion
{
miriam-gene:65217
a
ncit:C16612
.
lld:C1865885
a
ncit:C7057
.
dgn-gda:DGNb3c27cf03120b22aed13bc97b3a16208
sio:SIO_000628
miriam-gene:65217
,
lld:C1865885
;
a
sio:SIO_001121
.
}
dgn-np:NP693311.RA5_8YqZk2UgYdp6TDeFeOsuSbUb7wtaLrwJsnUs0md6A130_provenance
{
dgn-np:NP693311.RA5_8YqZk2UgYdp6TDeFeOsuSbUb7wtaLrwJsnUs0md6A130_assertion
dcterms:description
"[The PCDH15 gene was mapped within the critical region and was an interesting candidate because truncating mutations cause Usher syndrome type IF (USH1F) and two missense mutations have been previously associated with isolated deafness (DFNB23).]. 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:19107147
;
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:NP693311.RA5_8YqZk2UgYdp6TDeFeOsuSbUb7wtaLrwJsnUs0md6A130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:01+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}