@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP10759.RAmYuEmPdoA2WFxi07Lwp9v8AyDaCWAXBkaLj--fYYdiE
> .
@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 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:NP10759.RAmYuEmPdoA2WFxi07Lwp9v8AyDaCWAXBkaLj--fYYdiE130_head
{
this:
np:hasAssertion
dgn-np:NP10759.RAmYuEmPdoA2WFxi07Lwp9v8AyDaCWAXBkaLj--fYYdiE130_assertion
;
np:hasProvenance
dgn-np:NP10759.RAmYuEmPdoA2WFxi07Lwp9v8AyDaCWAXBkaLj--fYYdiE130_provenance
;
np:hasPublicationInfo
dgn-np:NP10759.RAmYuEmPdoA2WFxi07Lwp9v8AyDaCWAXBkaLj--fYYdiE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP10759.RAmYuEmPdoA2WFxi07Lwp9v8AyDaCWAXBkaLj--fYYdiE130_assertion
a
np:Assertion
.
dgn-np:NP10759.RAmYuEmPdoA2WFxi07Lwp9v8AyDaCWAXBkaLj--fYYdiE130_provenance
a
np:Provenance
.
dgn-np:NP10759.RAmYuEmPdoA2WFxi07Lwp9v8AyDaCWAXBkaLj--fYYdiE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP10759.RAmYuEmPdoA2WFxi07Lwp9v8AyDaCWAXBkaLj--fYYdiE130_assertion
{
miriam-gene:859
a
ncit:C16612
.
lld:C2931337
a
ncit:C7057
.
dgn-gda:DGN196da96012ff2c40d1d053d021636974
sio:SIO_000628
miriam-gene:859
,
lld:C2931337
;
a
sio:SIO_001121
.
}
dgn-np:NP10759.RAmYuEmPdoA2WFxi07Lwp9v8AyDaCWAXBkaLj--fYYdiE130_provenance
{
dgn-np:NP10759.RAmYuEmPdoA2WFxi07Lwp9v8AyDaCWAXBkaLj--fYYdiE130_assertion
dc:description
"[Selected genes that are present in the hemizygous state and which might be important for the phenotype of this patient as regards the congenital heart defect, autistic behavior and mental retardation (CAV3, OXTR, and SRGAP3/MEGAP, respectively) are discussed in context of the clinical features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:21082655
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP10759.RAmYuEmPdoA2WFxi07Lwp9v8AyDaCWAXBkaLj--fYYdiE130_publicationInfo
{
this:
dc:created
"2014-10-02T12:32:03+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc: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" .
}