@prefix dct: <
http://purl.org/dc/terms/
> .
@prefix ns1: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP6866.RACcLoXGNI-Zhs0mGKbF9yyEUITOkDo0S6RKmohqC3fdU
> .
@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-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
ns1:NP6866.RACcLoXGNI-Zhs0mGKbF9yyEUITOkDo0S6RKmohqC3fdU130_head
{
this:
np:hasAssertion
ns1:NP6866.RACcLoXGNI-Zhs0mGKbF9yyEUITOkDo0S6RKmohqC3fdU130_assertion
;
np:hasProvenance
ns1:NP6866.RACcLoXGNI-Zhs0mGKbF9yyEUITOkDo0S6RKmohqC3fdU130_provenance
;
np:hasPublicationInfo
ns1:NP6866.RACcLoXGNI-Zhs0mGKbF9yyEUITOkDo0S6RKmohqC3fdU130_publicationInfo
;
a
np:Nanopublication
.
ns1:NP6866.RACcLoXGNI-Zhs0mGKbF9yyEUITOkDo0S6RKmohqC3fdU130_assertion
a
np:Assertion
.
ns1:NP6866.RACcLoXGNI-Zhs0mGKbF9yyEUITOkDo0S6RKmohqC3fdU130_provenance
a
np:Provenance
.
ns1:NP6866.RACcLoXGNI-Zhs0mGKbF9yyEUITOkDo0S6RKmohqC3fdU130_publicationInfo
a
np:PublicationInfo
.
}
ns1:NP6866.RACcLoXGNI-Zhs0mGKbF9yyEUITOkDo0S6RKmohqC3fdU130_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
.
}
ns1:NP6866.RACcLoXGNI-Zhs0mGKbF9yyEUITOkDo0S6RKmohqC3fdU130_provenance
{
ns1:NP6866.RACcLoXGNI-Zhs0mGKbF9yyEUITOkDo0S6RKmohqC3fdU130_assertion
dct: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-2016
;
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-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
ns1:NP6866.RACcLoXGNI-Zhs0mGKbF9yyEUITOkDo0S6RKmohqC3fdU130_publicationInfo
{
this:
dct:created
"2016-05-13T12:41:52+02:00"^^
xsd:dateTime
;
dct:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dct:rightsHolder
dgn-void:IBIGroup
;
dct:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}