@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP357988.RAY9sOHe3kcBTz81ChD1E9u268KLED3z54L53zXnmQPPU
> .
@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:NP357988.RAY9sOHe3kcBTz81ChD1E9u268KLED3z54L53zXnmQPPU130_head
{
this:
np:hasAssertion
dgn-np:NP357988.RAY9sOHe3kcBTz81ChD1E9u268KLED3z54L53zXnmQPPU130_assertion
;
np:hasProvenance
dgn-np:NP357988.RAY9sOHe3kcBTz81ChD1E9u268KLED3z54L53zXnmQPPU130_provenance
;
np:hasPublicationInfo
dgn-np:NP357988.RAY9sOHe3kcBTz81ChD1E9u268KLED3z54L53zXnmQPPU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP357988.RAY9sOHe3kcBTz81ChD1E9u268KLED3z54L53zXnmQPPU130_assertion
a
np:Assertion
.
dgn-np:NP357988.RAY9sOHe3kcBTz81ChD1E9u268KLED3z54L53zXnmQPPU130_provenance
a
np:Provenance
.
dgn-np:NP357988.RAY9sOHe3kcBTz81ChD1E9u268KLED3z54L53zXnmQPPU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP357988.RAY9sOHe3kcBTz81ChD1E9u268KLED3z54L53zXnmQPPU130_assertion
{
miriam-gene:2006
a
ncit:C16612
.
lld:C0020437
a
ncit:C7057
.
dgn-gda:DGN8edfa1c66d7e5784ff60276730be8fc9
sio:SIO_000628
miriam-gene:2006
,
lld:C0020437
;
a
sio:SIO_001121
.
}
dgn-np:NP357988.RAY9sOHe3kcBTz81ChD1E9u268KLED3z54L53zXnmQPPU130_provenance
{
dgn-np:NP357988.RAY9sOHe3kcBTz81ChD1E9u268KLED3z54L53zXnmQPPU130_assertion
dcterms:description
"[Molecular genetic studies have indicated that hemizygosity at the elastin locus (ELN) may account for the cardiac abnormalities seen in WS, but that mental retardation and hypercalcemia are likely caused by other genes flanking ELN.]. 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:9637430
;
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:NP357988.RAY9sOHe3kcBTz81ChD1E9u268KLED3z54L53zXnmQPPU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:30+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" .
}