@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP550867.RAEgG82-yOGvKaFRhVSXPkBqxgf1KS5QvtYg1SyG1dKy0
> .
@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:NP550867.RAEgG82-yOGvKaFRhVSXPkBqxgf1KS5QvtYg1SyG1dKy0130_head
{
this:
np:hasAssertion
dgn-np:NP550867.RAEgG82-yOGvKaFRhVSXPkBqxgf1KS5QvtYg1SyG1dKy0130_assertion
;
np:hasProvenance
dgn-np:NP550867.RAEgG82-yOGvKaFRhVSXPkBqxgf1KS5QvtYg1SyG1dKy0130_provenance
;
np:hasPublicationInfo
dgn-np:NP550867.RAEgG82-yOGvKaFRhVSXPkBqxgf1KS5QvtYg1SyG1dKy0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP550867.RAEgG82-yOGvKaFRhVSXPkBqxgf1KS5QvtYg1SyG1dKy0130_assertion
a
np:Assertion
.
dgn-np:NP550867.RAEgG82-yOGvKaFRhVSXPkBqxgf1KS5QvtYg1SyG1dKy0130_provenance
a
np:Provenance
.
dgn-np:NP550867.RAEgG82-yOGvKaFRhVSXPkBqxgf1KS5QvtYg1SyG1dKy0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP550867.RAEgG82-yOGvKaFRhVSXPkBqxgf1KS5QvtYg1SyG1dKy0130_assertion
{
miriam-gene:10743
a
ncit:C16612
.
lld:C0028754
a
ncit:C7057
.
dgn-gda:DGNc43c7685f543dd5158e91e05876ec9cc
sio:SIO_000628
miriam-gene:10743
,
lld:C0028754
;
a
sio:SIO_001121
.
}
dgn-np:NP550867.RAEgG82-yOGvKaFRhVSXPkBqxgf1KS5QvtYg1SyG1dKy0130_provenance
{
dgn-np:NP550867.RAEgG82-yOGvKaFRhVSXPkBqxgf1KS5QvtYg1SyG1dKy0130_assertion
dcterms:description
"[While not significantly correlated, the presence of hearing loss, seizures, hoarse voice, childhood onset of obesity and specific behavioral aspects and the absence of immunologic abnormalities and cardiovascular or renal structural anomalies, appeared to be specific for the de novo RAI1 subgroup.]. 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:21857958
;
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:NP550867.RAEgG82-yOGvKaFRhVSXPkBqxgf1KS5QvtYg1SyG1dKy0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:32+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" .
}