@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP4806.RAD87y-foRC-RUxwwHP7t1DBCEe9GWWY0Ifo1mCStJGoU
> .
@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 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:NP4806.RAD87y-foRC-RUxwwHP7t1DBCEe9GWWY0Ifo1mCStJGoU130_head
{
this:
np:hasAssertion
dgn-np:NP4806.RAD87y-foRC-RUxwwHP7t1DBCEe9GWWY0Ifo1mCStJGoU130_assertion
;
np:hasProvenance
dgn-np:NP4806.RAD87y-foRC-RUxwwHP7t1DBCEe9GWWY0Ifo1mCStJGoU130_provenance
;
np:hasPublicationInfo
dgn-np:NP4806.RAD87y-foRC-RUxwwHP7t1DBCEe9GWWY0Ifo1mCStJGoU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP4806.RAD87y-foRC-RUxwwHP7t1DBCEe9GWWY0Ifo1mCStJGoU130_assertion
a
np:Assertion
.
dgn-np:NP4806.RAD87y-foRC-RUxwwHP7t1DBCEe9GWWY0Ifo1mCStJGoU130_provenance
a
np:Provenance
.
dgn-np:NP4806.RAD87y-foRC-RUxwwHP7t1DBCEe9GWWY0Ifo1mCStJGoU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP4806.RAD87y-foRC-RUxwwHP7t1DBCEe9GWWY0Ifo1mCStJGoU130_assertion
{
miriam-gene:5095
a
ncit:C16612
.
lld:C0268579
a
ncit:C7057
.
dgn-gda:DGN385bd011367f2191aa1313be6bb77105
sio:SIO_000628
miriam-gene:5095
,
lld:C0268579
;
a
sio:SIO_001122
.
}
dgn-np:NP4806.RAD87y-foRC-RUxwwHP7t1DBCEe9GWWY0Ifo1mCStJGoU130_provenance
{
dgn-np:NP4806.RAD87y-foRC-RUxwwHP7t1DBCEe9GWWY0Ifo1mCStJGoU130_assertion
dcterms:description
"[The inherited metabolic disease propionic acidemia (PA) can result from mutations in either of the genes PCCA or PCCB, which encode the alpha and beta subunits, respectively, of the mitochondrial enzyme propionyl CoA-carboxylase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:10101253
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP4806.RAD87y-foRC-RUxwwHP7t1DBCEe9GWWY0Ifo1mCStJGoU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:00+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: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" .
}