@prefix orcid: <
http://orcid.org/
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc
> .
@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:NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_head
{
this:
np:hasAssertion
dgn-np:NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion
;
np:hasProvenance
dgn-np:NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_provenance
;
np:hasPublicationInfo
dgn-np:NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion
a
np:Assertion
.
dgn-np:NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_provenance
a
np:Provenance
.
dgn-np:NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion
{
miriam-gene:178
a
ncit:C16612
.
lld:C0017922
a
ncit:C7057
.
dgn-gda:DGN3cbf1501ade7f188ada27f7212d1d6a6
sio:SIO_000628
miriam-gene:178
,
lld:C0017922
;
a
sio:SIO_001122
.
}
dgn-np:NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_provenance
{
dgn-np:NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion
dcterms:description
"[Several different mutations in the glycogen-debranching enzyme gene AGL have been found in patients with glycogen storage disease type III (GSD III) to date, but no missense mutations have been reported for GSD III, only nonsense, splicing, and deletion/insertion lesions.]. 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:10571954
;
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:NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:31:58+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
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}