@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP814013.RA50IQKA1v-gFwA99_co93erwe-gJuOjafw5N_61Rn7Uw
> .
@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:NP814013.RA50IQKA1v-gFwA99_co93erwe-gJuOjafw5N_61Rn7Uw130_head
{
this:
np:hasAssertion
dgn-np:NP814013.RA50IQKA1v-gFwA99_co93erwe-gJuOjafw5N_61Rn7Uw130_assertion
;
np:hasProvenance
dgn-np:NP814013.RA50IQKA1v-gFwA99_co93erwe-gJuOjafw5N_61Rn7Uw130_provenance
;
np:hasPublicationInfo
dgn-np:NP814013.RA50IQKA1v-gFwA99_co93erwe-gJuOjafw5N_61Rn7Uw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP814013.RA50IQKA1v-gFwA99_co93erwe-gJuOjafw5N_61Rn7Uw130_assertion
a
np:Assertion
.
dgn-np:NP814013.RA50IQKA1v-gFwA99_co93erwe-gJuOjafw5N_61Rn7Uw130_provenance
a
np:Provenance
.
dgn-np:NP814013.RA50IQKA1v-gFwA99_co93erwe-gJuOjafw5N_61Rn7Uw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP814013.RA50IQKA1v-gFwA99_co93erwe-gJuOjafw5N_61Rn7Uw130_assertion
{
miriam-gene:10020
a
ncit:C16612
.
lld:C0004093
a
ncit:C7057
.
dgn-gda:DGN83ac6c23fdf2ac6e6a26e6ee22699f32
sio:SIO_000628
miriam-gene:10020
,
lld:C0004093
;
a
sio:SIO_001121
.
}
dgn-np:NP814013.RA50IQKA1v-gFwA99_co93erwe-gJuOjafw5N_61Rn7Uw130_provenance
{
dgn-np:NP814013.RA50IQKA1v-gFwA99_co93erwe-gJuOjafw5N_61Rn7Uw130_assertion
dcterms:description
"[Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive muscular disorder characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood and sparing of the quadricep muscles.]. 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:12325084
;
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:NP814013.RA50IQKA1v-gFwA99_co93erwe-gJuOjafw5N_61Rn7Uw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:19+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" .
}