@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0
> .
@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:NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_head
{
this:
np:hasAssertion
dgn-np:NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_assertion
;
np:hasProvenance
dgn-np:NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_provenance
;
np:hasPublicationInfo
dgn-np:NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_assertion
a
np:Assertion
.
dgn-np:NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_provenance
a
np:Provenance
.
dgn-np:NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_assertion
{
miriam-gene:1482
a
ncit:C16612
.
lld:C2717907
a
ncit:C7057
.
dgn-gda:DGN7db72ea34f63266dcd8a163dd10192fa
sio:SIO_000628
miriam-gene:1482
,
lld:C2717907
;
a
sio:SIO_001122
.
}
dgn-np:NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_provenance
{
dgn-np:NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_assertion
dcterms:description
"[ NKX2.5 mutation c.512insGC is associated with ASDs, syncope and sudden death. It is the second de novo mutation identified in NKX2.5. (2) NKX2.5 mutations are rare in sporadic CHD patients. (3) This study for the first time identifies association between]. 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:20932824
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:39:00+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" .
}