@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP785669.RAH6_uksnAWrHp0SW8XEzHZV0-2pHDqZO0HT2WSAxlAko
> .
@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 dcterms: <
http://purl.org/dc/terms/
> .
@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/v4.0.0/void/
> .
dgn-np:NP785669.RAH6_uksnAWrHp0SW8XEzHZV0-2pHDqZO0HT2WSAxlAko130_head
{
this:
np:hasAssertion
dgn-np:NP785669.RAH6_uksnAWrHp0SW8XEzHZV0-2pHDqZO0HT2WSAxlAko130_assertion
;
np:hasProvenance
dgn-np:NP785669.RAH6_uksnAWrHp0SW8XEzHZV0-2pHDqZO0HT2WSAxlAko130_provenance
;
np:hasPublicationInfo
dgn-np:NP785669.RAH6_uksnAWrHp0SW8XEzHZV0-2pHDqZO0HT2WSAxlAko130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP785669.RAH6_uksnAWrHp0SW8XEzHZV0-2pHDqZO0HT2WSAxlAko130_assertion
a
np:Assertion
.
dgn-np:NP785669.RAH6_uksnAWrHp0SW8XEzHZV0-2pHDqZO0HT2WSAxlAko130_provenance
a
np:Provenance
.
dgn-np:NP785669.RAH6_uksnAWrHp0SW8XEzHZV0-2pHDqZO0HT2WSAxlAko130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP785669.RAH6_uksnAWrHp0SW8XEzHZV0-2pHDqZO0HT2WSAxlAko130_assertion
{
miriam-gene:2632
a
ncit:C16612
.
lld:C0023890
a
ncit:C7057
.
dgn-gda:DGN4ece8da59a8c28439e1544e3d1a3a96c
sio:SIO_000628
miriam-gene:2632
,
lld:C0023890
;
a
sio:SIO_001121
.
}
dgn-np:NP785669.RAH6_uksnAWrHp0SW8XEzHZV0-2pHDqZO0HT2WSAxlAko130_provenance
{
dgn-np:NP785669.RAH6_uksnAWrHp0SW8XEzHZV0-2pHDqZO0HT2WSAxlAko130_assertion
dcterms:description
"[Although classic GSD IV presents with early onset of hepatosplenomegaly with progressive liver cirrhosis, GSD IV exhibits extensive clinical heterogeneity with respect to age at onset and variability in pattern and extent of organ and tissue involvement.]. 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:20058079
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP785669.RAH6_uksnAWrHp0SW8XEzHZV0-2pHDqZO0HT2WSAxlAko130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:41+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: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" .
}