@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP550161.RAZlPwqNrk6M4XR_BKq9M5UDG7gfyQiF3VlflTERLXPWw
> .
@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:NP550161.RAZlPwqNrk6M4XR_BKq9M5UDG7gfyQiF3VlflTERLXPWw130_head
{
this:
np:hasAssertion
dgn-np:NP550161.RAZlPwqNrk6M4XR_BKq9M5UDG7gfyQiF3VlflTERLXPWw130_assertion
;
np:hasProvenance
dgn-np:NP550161.RAZlPwqNrk6M4XR_BKq9M5UDG7gfyQiF3VlflTERLXPWw130_provenance
;
np:hasPublicationInfo
dgn-np:NP550161.RAZlPwqNrk6M4XR_BKq9M5UDG7gfyQiF3VlflTERLXPWw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP550161.RAZlPwqNrk6M4XR_BKq9M5UDG7gfyQiF3VlflTERLXPWw130_assertion
a
np:Assertion
.
dgn-np:NP550161.RAZlPwqNrk6M4XR_BKq9M5UDG7gfyQiF3VlflTERLXPWw130_provenance
a
np:Provenance
.
dgn-np:NP550161.RAZlPwqNrk6M4XR_BKq9M5UDG7gfyQiF3VlflTERLXPWw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP550161.RAZlPwqNrk6M4XR_BKq9M5UDG7gfyQiF3VlflTERLXPWw130_assertion
{
miriam-gene:5428
a
ncit:C16612
.
lld:C0026848
a
ncit:C7057
.
dgn-gda:DGNb3aa7b381fe978150d6a2236385d3657
sio:SIO_000628
miriam-gene:5428
,
lld:C0026848
;
a
sio:SIO_001121
.
}
dgn-np:NP550161.RAZlPwqNrk6M4XR_BKq9M5UDG7gfyQiF3VlflTERLXPWw130_provenance
{
dgn-np:NP550161.RAZlPwqNrk6M4XR_BKq9M5UDG7gfyQiF3VlflTERLXPWw130_assertion
dcterms:description
"[Index patients in both families presented with PEO and developed other clinical disease manifestations, such as myopathy and cardiomyopathy (patient 1) and axonal neuropathy, diabetes mellitus, hearing loss, and myopathy (patient 2), later in the course of illness.]. 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:15258213
;
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:NP550161.RAZlPwqNrk6M4XR_BKq9M5UDG7gfyQiF3VlflTERLXPWw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:32+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" .
}