@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP612497.RAJy0zzDY8dX3YCtdPzXX32r49TRBDBcDMD93Mg8Tw3Rk
> .
@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:NP612497.RAJy0zzDY8dX3YCtdPzXX32r49TRBDBcDMD93Mg8Tw3Rk130_head
{
this:
np:hasAssertion
dgn-np:NP612497.RAJy0zzDY8dX3YCtdPzXX32r49TRBDBcDMD93Mg8Tw3Rk130_assertion
;
np:hasProvenance
dgn-np:NP612497.RAJy0zzDY8dX3YCtdPzXX32r49TRBDBcDMD93Mg8Tw3Rk130_provenance
;
np:hasPublicationInfo
dgn-np:NP612497.RAJy0zzDY8dX3YCtdPzXX32r49TRBDBcDMD93Mg8Tw3Rk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP612497.RAJy0zzDY8dX3YCtdPzXX32r49TRBDBcDMD93Mg8Tw3Rk130_assertion
a
np:Assertion
.
dgn-np:NP612497.RAJy0zzDY8dX3YCtdPzXX32r49TRBDBcDMD93Mg8Tw3Rk130_provenance
a
np:Provenance
.
dgn-np:NP612497.RAJy0zzDY8dX3YCtdPzXX32r49TRBDBcDMD93Mg8Tw3Rk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP612497.RAJy0zzDY8dX3YCtdPzXX32r49TRBDBcDMD93Mg8Tw3Rk130_assertion
{
miriam-gene:7532
a
ncit:C16612
.
lld:C0037769
a
ncit:C7057
.
dgn-gda:DGNeb7b302cdc0be5d0477aa152f812f0cf
sio:SIO_000628
miriam-gene:7532
,
lld:C0037769
;
a
sio:SIO_001121
.
}
dgn-np:NP612497.RAJy0zzDY8dX3YCtdPzXX32r49TRBDBcDMD93Mg8Tw3Rk130_provenance
{
dgn-np:NP612497.RAJy0zzDY8dX3YCtdPzXX32r49TRBDBcDMD93Mg8Tw3Rk130_assertion
dcterms:description
"[When zebrafish ywhag1 was knocked down, reduced brain size and increased diameter of the heart tube were observed, indicating that the infantile spasms and cardiomegaly seen in the patient with the telomeric deletion may be derived from haploinsufficiency of YWHAG.]. 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:20146355
;
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:NP612497.RAJy0zzDY8dX3YCtdPzXX32r49TRBDBcDMD93Mg8Tw3Rk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:10+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" .
}