@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1313.RAv3vBfqd2mLW_88TYM3LPQmpuiC6n9rTvbhGHRcT-HfQ
> .
@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 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:NP1313.RAv3vBfqd2mLW_88TYM3LPQmpuiC6n9rTvbhGHRcT-HfQ130_head
{
this:
np:hasAssertion
dgn-np:NP1313.RAv3vBfqd2mLW_88TYM3LPQmpuiC6n9rTvbhGHRcT-HfQ130_assertion
;
np:hasProvenance
dgn-np:NP1313.RAv3vBfqd2mLW_88TYM3LPQmpuiC6n9rTvbhGHRcT-HfQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP1313.RAv3vBfqd2mLW_88TYM3LPQmpuiC6n9rTvbhGHRcT-HfQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1313.RAv3vBfqd2mLW_88TYM3LPQmpuiC6n9rTvbhGHRcT-HfQ130_assertion
a
np:Assertion
.
dgn-np:NP1313.RAv3vBfqd2mLW_88TYM3LPQmpuiC6n9rTvbhGHRcT-HfQ130_provenance
a
np:Provenance
.
dgn-np:NP1313.RAv3vBfqd2mLW_88TYM3LPQmpuiC6n9rTvbhGHRcT-HfQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1313.RAv3vBfqd2mLW_88TYM3LPQmpuiC6n9rTvbhGHRcT-HfQ130_assertion
{
miriam-gene:5213
a
ncit:C16612
.
lld:C0017926
a
ncit:C7057
.
dgn-gda:DGNd9de3d7f2d6a676532f88c4aff505dbf
sio:SIO_000628
miriam-gene:5213
,
lld:C0017926
;
a
sio:SIO_001122
.
}
dgn-np:NP1313.RAv3vBfqd2mLW_88TYM3LPQmpuiC6n9rTvbhGHRcT-HfQ130_provenance
{
dgn-np:NP1313.RAv3vBfqd2mLW_88TYM3LPQmpuiC6n9rTvbhGHRcT-HfQ130_assertion
dc:description
"[Muscle phosphofructokinase (PFKM) deficiency, a rare disorder of glycogen metabolism also known as glycogen storage disease type VII (GSDVII), is characterized by exercise intolerance, myalgias, cramps and episodic myoglobinuria associated with compensated hemolytic anaemia and hyperuricemia.]. 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:22133655
;
prov:wasDerivedFrom
dgn-void:uniprot-20150221
;
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-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
}
dgn-np:NP1313.RAv3vBfqd2mLW_88TYM3LPQmpuiC6n9rTvbhGHRcT-HfQ130_publicationInfo
{
this:
dc:created
"2015-08-25T14:37:42+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}