@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP66818.RA4O6X0CdN-By80aY6IpEyN0EGzPmZYriKK9zW8YldrM4
> .
@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 dcterms: <
http://purl.org/dc/terms/
> .
@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/v3.0.0/void/
> .
dgn-np:NP66818.RA4O6X0CdN-By80aY6IpEyN0EGzPmZYriKK9zW8YldrM4130_head
{
this:
np:hasAssertion
dgn-np:NP66818.RA4O6X0CdN-By80aY6IpEyN0EGzPmZYriKK9zW8YldrM4130_assertion
;
np:hasProvenance
dgn-np:NP66818.RA4O6X0CdN-By80aY6IpEyN0EGzPmZYriKK9zW8YldrM4130_provenance
;
np:hasPublicationInfo
dgn-np:NP66818.RA4O6X0CdN-By80aY6IpEyN0EGzPmZYriKK9zW8YldrM4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP66818.RA4O6X0CdN-By80aY6IpEyN0EGzPmZYriKK9zW8YldrM4130_assertion
a
np:Assertion
.
dgn-np:NP66818.RA4O6X0CdN-By80aY6IpEyN0EGzPmZYriKK9zW8YldrM4130_provenance
a
np:Provenance
.
dgn-np:NP66818.RA4O6X0CdN-By80aY6IpEyN0EGzPmZYriKK9zW8YldrM4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP66818.RA4O6X0CdN-By80aY6IpEyN0EGzPmZYriKK9zW8YldrM4130_assertion
{
miriam-gene:92211
a
ncit:C16612
.
lld:C0339527
a
ncit:C7057
.
dgn-gda:DGN40be8ec1486b3d1d36750bdcea165992
sio:SIO_000628
miriam-gene:92211
,
lld:C0339527
;
a
sio:SIO_001122
.
}
dgn-np:NP66818.RA4O6X0CdN-By80aY6IpEyN0EGzPmZYriKK9zW8YldrM4130_provenance
{
dgn-np:NP66818.RA4O6X0CdN-By80aY6IpEyN0EGzPmZYriKK9zW8YldrM4130_assertion
dcterms:description
"[We characterized the genomic organization of human PCDH21 and performed mutation screening in 224 patients with autosomal recessive retinitis pigmentosa, 29 patients with Leber congenital amaurosis, and 26 patients with Usher syndrome type 1.]. 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:16288196
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP66818.RA4O6X0CdN-By80aY6IpEyN0EGzPmZYriKK9zW8YldrM4130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:38:16+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}