@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP287584.RAWRvdthV9cFRMJh8SHwMEVgna9nrlxPK4E1TabISBK04
> .
@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:NP287584.RAWRvdthV9cFRMJh8SHwMEVgna9nrlxPK4E1TabISBK04130_head
{
this:
np:hasAssertion
dgn-np:NP287584.RAWRvdthV9cFRMJh8SHwMEVgna9nrlxPK4E1TabISBK04130_assertion
;
np:hasProvenance
dgn-np:NP287584.RAWRvdthV9cFRMJh8SHwMEVgna9nrlxPK4E1TabISBK04130_provenance
;
np:hasPublicationInfo
dgn-np:NP287584.RAWRvdthV9cFRMJh8SHwMEVgna9nrlxPK4E1TabISBK04130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP287584.RAWRvdthV9cFRMJh8SHwMEVgna9nrlxPK4E1TabISBK04130_assertion
a
np:Assertion
.
dgn-np:NP287584.RAWRvdthV9cFRMJh8SHwMEVgna9nrlxPK4E1TabISBK04130_provenance
a
np:Provenance
.
dgn-np:NP287584.RAWRvdthV9cFRMJh8SHwMEVgna9nrlxPK4E1TabISBK04130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP287584.RAWRvdthV9cFRMJh8SHwMEVgna9nrlxPK4E1TabISBK04130_assertion
{
miriam-gene:34
a
ncit:C16612
.
lld:C0220710
a
ncit:C7057
.
dgn-gda:DGNb2edd2ae4e5789a4e8f9a1ff0bb97b11
sio:SIO_000628
miriam-gene:34
,
lld:C0220710
;
a
sio:SIO_001121
.
}
dgn-np:NP287584.RAWRvdthV9cFRMJh8SHwMEVgna9nrlxPK4E1TabISBK04130_provenance
{
dgn-np:NP287584.RAWRvdthV9cFRMJh8SHwMEVgna9nrlxPK4E1TabISBK04130_assertion
dcterms:description
"[Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency in population newborn bloodspot screening (NBS) programs, subjects have been identified with variant ACADM (gene encoding MCAD enzyme) genotypes that have never been identified in clinically ascertained patients.]. 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:22630369
;
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:NP287584.RAWRvdthV9cFRMJh8SHwMEVgna9nrlxPK4E1TabISBK04130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:43+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" .
}