@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP488352.RACJY1xzkLXddpwltUmZt7iMmGHKtAP9u4NeP-v_KDB8g
> .
@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:NP488352.RACJY1xzkLXddpwltUmZt7iMmGHKtAP9u4NeP-v_KDB8g130_head
{
this:
np:hasAssertion
dgn-np:NP488352.RACJY1xzkLXddpwltUmZt7iMmGHKtAP9u4NeP-v_KDB8g130_assertion
;
np:hasProvenance
dgn-np:NP488352.RACJY1xzkLXddpwltUmZt7iMmGHKtAP9u4NeP-v_KDB8g130_provenance
;
np:hasPublicationInfo
dgn-np:NP488352.RACJY1xzkLXddpwltUmZt7iMmGHKtAP9u4NeP-v_KDB8g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP488352.RACJY1xzkLXddpwltUmZt7iMmGHKtAP9u4NeP-v_KDB8g130_assertion
a
np:Assertion
.
dgn-np:NP488352.RACJY1xzkLXddpwltUmZt7iMmGHKtAP9u4NeP-v_KDB8g130_provenance
a
np:Provenance
.
dgn-np:NP488352.RACJY1xzkLXddpwltUmZt7iMmGHKtAP9u4NeP-v_KDB8g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP488352.RACJY1xzkLXddpwltUmZt7iMmGHKtAP9u4NeP-v_KDB8g130_assertion
{
miriam-gene:7490
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGN04e7c47a7735c86336f28dfe8a0cf18d
sio:SIO_000628
miriam-gene:7490
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP488352.RACJY1xzkLXddpwltUmZt7iMmGHKtAP9u4NeP-v_KDB8g130_provenance
{
dgn-np:NP488352.RACJY1xzkLXddpwltUmZt7iMmGHKtAP9u4NeP-v_KDB8g130_assertion
dcterms:description
"[Gene dosage effects for catalase (CAT) were studied in two unrelated patients with an interstitial deletion involving 11p13 to determine precisely the sites of the genes for CAT and the Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad (WAGR) in the 11p13 band.]. 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:6325323
;
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:NP488352.RACJY1xzkLXddpwltUmZt7iMmGHKtAP9u4NeP-v_KDB8g130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:52+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" .
}