@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk
> .
@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:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_head
{
this:
np:hasAssertion
dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_assertion
;
np:hasProvenance
dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_provenance
;
np:hasPublicationInfo
dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_assertion
a
np:Assertion
.
dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_provenance
a
np:Provenance
.
dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_assertion
{
miriam-gene:4010
a
ncit:C16612
.
lld:C0027341
a
ncit:C7057
.
dgn-gda:DGN3ae6048c378b437499d1952ea10b8831
sio:SIO_000628
miriam-gene:4010
,
lld:C0027341
;
a
sio:SIO_001121
.
}
dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_provenance
{
dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_assertion
dcterms:description
"[Nail-patella syndrome (NPS), an autosomal dominant disorder characterized by nail dysplasia, absent or hypoplastic patellae, iliac horns, and often associated with nephropathy and, less frequently, with open angle glaucoma, is caused by mutations in the LMX1B gene.]. 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:12792813
;
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:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:01+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" .
}