@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP361162.RAmT-aQndwdl5TE_fDV5nSE0Sdj2ExrIzPhTZ_DpGKWFk
> .
@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:NP361162.RAmT-aQndwdl5TE_fDV5nSE0Sdj2ExrIzPhTZ_DpGKWFk130_head
{
this:
np:hasAssertion
dgn-np:NP361162.RAmT-aQndwdl5TE_fDV5nSE0Sdj2ExrIzPhTZ_DpGKWFk130_assertion
;
np:hasProvenance
dgn-np:NP361162.RAmT-aQndwdl5TE_fDV5nSE0Sdj2ExrIzPhTZ_DpGKWFk130_provenance
;
np:hasPublicationInfo
dgn-np:NP361162.RAmT-aQndwdl5TE_fDV5nSE0Sdj2ExrIzPhTZ_DpGKWFk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP361162.RAmT-aQndwdl5TE_fDV5nSE0Sdj2ExrIzPhTZ_DpGKWFk130_assertion
a
np:Assertion
.
dgn-np:NP361162.RAmT-aQndwdl5TE_fDV5nSE0Sdj2ExrIzPhTZ_DpGKWFk130_provenance
a
np:Provenance
.
dgn-np:NP361162.RAmT-aQndwdl5TE_fDV5nSE0Sdj2ExrIzPhTZ_DpGKWFk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP361162.RAmT-aQndwdl5TE_fDV5nSE0Sdj2ExrIzPhTZ_DpGKWFk130_assertion
{
miriam-gene:178
a
ncit:C16612
.
lld:C0017922
a
ncit:C7057
.
dgn-gda:DGNedeb336d5ae14a517029a7fbe584a105
sio:SIO_000628
miriam-gene:178
,
lld:C0017922
;
a
sio:SIO_001121
.
}
dgn-np:NP361162.RAmT-aQndwdl5TE_fDV5nSE0Sdj2ExrIzPhTZ_DpGKWFk130_provenance
{
dgn-np:NP361162.RAmT-aQndwdl5TE_fDV5nSE0Sdj2ExrIzPhTZ_DpGKWFk130_assertion
dcterms:description
"[Glycogenosis type III (Cori disease) is an autosomal recessive disorder caused by the deficiency of the glycogen debranching enzyme, encoded by the AGL gene, and existing in six isoforms alternately spliced in a tissue-specific way.]. 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:16705713
;
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:NP361162.RAmT-aQndwdl5TE_fDV5nSE0Sdj2ExrIzPhTZ_DpGKWFk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:31+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" .
}