@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP419443.RAn8jkku_WM6DCS3foJVyUCE1oRbf9ALgn2vJYBn6ba_A
> .
@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:NP419443.RAn8jkku_WM6DCS3foJVyUCE1oRbf9ALgn2vJYBn6ba_A130_head
{
this:
np:hasAssertion
dgn-np:NP419443.RAn8jkku_WM6DCS3foJVyUCE1oRbf9ALgn2vJYBn6ba_A130_assertion
;
np:hasProvenance
dgn-np:NP419443.RAn8jkku_WM6DCS3foJVyUCE1oRbf9ALgn2vJYBn6ba_A130_provenance
;
np:hasPublicationInfo
dgn-np:NP419443.RAn8jkku_WM6DCS3foJVyUCE1oRbf9ALgn2vJYBn6ba_A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP419443.RAn8jkku_WM6DCS3foJVyUCE1oRbf9ALgn2vJYBn6ba_A130_assertion
a
np:Assertion
.
dgn-np:NP419443.RAn8jkku_WM6DCS3foJVyUCE1oRbf9ALgn2vJYBn6ba_A130_provenance
a
np:Provenance
.
dgn-np:NP419443.RAn8jkku_WM6DCS3foJVyUCE1oRbf9ALgn2vJYBn6ba_A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP419443.RAn8jkku_WM6DCS3foJVyUCE1oRbf9ALgn2vJYBn6ba_A130_assertion
{
miriam-gene:2626
a
ncit:C16612
.
lld:C0018798
a
ncit:C7057
.
dgn-gda:DGNd24d84efb473b7100b33270caf81474c
sio:SIO_000628
miriam-gene:2626
,
lld:C0018798
;
a
sio:SIO_001121
.
}
dgn-np:NP419443.RAn8jkku_WM6DCS3foJVyUCE1oRbf9ALgn2vJYBn6ba_A130_provenance
{
dgn-np:NP419443.RAn8jkku_WM6DCS3foJVyUCE1oRbf9ALgn2vJYBn6ba_A130_assertion
dcterms:description
"[Mutations in GATA4 are thought to be responsible for the congenital heart defects reported in association with this chromosomal deletion, and several familial point mutations leading to amino acid substitutions have also been identified.]. 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:21834050
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP419443.RAn8jkku_WM6DCS3foJVyUCE1oRbf9ALgn2vJYBn6ba_A130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:44+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" .
}