@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1129340.RAq-m_aK0hSXoPWn5bPv5vNzq-1JOd0W4zxeOfYlfvEZM
> .
@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:NP1129340.RAq-m_aK0hSXoPWn5bPv5vNzq-1JOd0W4zxeOfYlfvEZM130_head
{
this:
np:hasAssertion
dgn-np:NP1129340.RAq-m_aK0hSXoPWn5bPv5vNzq-1JOd0W4zxeOfYlfvEZM130_assertion
;
np:hasProvenance
dgn-np:NP1129340.RAq-m_aK0hSXoPWn5bPv5vNzq-1JOd0W4zxeOfYlfvEZM130_provenance
;
np:hasPublicationInfo
dgn-np:NP1129340.RAq-m_aK0hSXoPWn5bPv5vNzq-1JOd0W4zxeOfYlfvEZM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1129340.RAq-m_aK0hSXoPWn5bPv5vNzq-1JOd0W4zxeOfYlfvEZM130_assertion
a
np:Assertion
.
dgn-np:NP1129340.RAq-m_aK0hSXoPWn5bPv5vNzq-1JOd0W4zxeOfYlfvEZM130_provenance
a
np:Provenance
.
dgn-np:NP1129340.RAq-m_aK0hSXoPWn5bPv5vNzq-1JOd0W4zxeOfYlfvEZM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1129340.RAq-m_aK0hSXoPWn5bPv5vNzq-1JOd0W4zxeOfYlfvEZM130_assertion
{
miriam-gene:2632
a
ncit:C16612
.
lld:C1849722
a
ncit:C7057
.
dgn-gda:DGNb6c7dbd7c92a6c51233b9d39b6c9c0ec
sio:SIO_000628
miriam-gene:2632
,
lld:C1849722
;
a
sio:SIO_001122
.
}
dgn-np:NP1129340.RAq-m_aK0hSXoPWn5bPv5vNzq-1JOd0W4zxeOfYlfvEZM130_provenance
{
dgn-np:NP1129340.RAq-m_aK0hSXoPWn5bPv5vNzq-1JOd0W4zxeOfYlfvEZM130_assertion
dcterms:description
"[GBE1 mutations can cause an early adult-onset relapsing-remitting form of polyglucosan body disease distinct from adult polyglucosan body disease in several ways, including younger age at onset, history of infantile liver involvement, and subacute and remitting course simulating multiple sclerosis.]. 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:24248152
;
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:NP1129340.RAq-m_aK0hSXoPWn5bPv5vNzq-1JOd0W4zxeOfYlfvEZM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:18+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" .
}