@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1109757.RAgEpQTxfEUqmxGO09bEs6VvYWTUJsoLXl9hOc_wZOJDA
> .
@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:NP1109757.RAgEpQTxfEUqmxGO09bEs6VvYWTUJsoLXl9hOc_wZOJDA130_head
{
this:
np:hasAssertion
dgn-np:NP1109757.RAgEpQTxfEUqmxGO09bEs6VvYWTUJsoLXl9hOc_wZOJDA130_assertion
;
np:hasProvenance
dgn-np:NP1109757.RAgEpQTxfEUqmxGO09bEs6VvYWTUJsoLXl9hOc_wZOJDA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1109757.RAgEpQTxfEUqmxGO09bEs6VvYWTUJsoLXl9hOc_wZOJDA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1109757.RAgEpQTxfEUqmxGO09bEs6VvYWTUJsoLXl9hOc_wZOJDA130_assertion
a
np:Assertion
.
dgn-np:NP1109757.RAgEpQTxfEUqmxGO09bEs6VvYWTUJsoLXl9hOc_wZOJDA130_provenance
a
np:Provenance
.
dgn-np:NP1109757.RAgEpQTxfEUqmxGO09bEs6VvYWTUJsoLXl9hOc_wZOJDA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1109757.RAgEpQTxfEUqmxGO09bEs6VvYWTUJsoLXl9hOc_wZOJDA130_assertion
{
miriam-gene:10020
a
ncit:C16612
.
lld:C0026846
a
ncit:C7057
.
dgn-gda:DGN8e2dde19de7a66bc3f5f8e42ce84b774
sio:SIO_000628
miriam-gene:10020
,
lld:C0026846
;
a
sio:SIO_001121
.
}
dgn-np:NP1109757.RAgEpQTxfEUqmxGO09bEs6VvYWTUJsoLXl9hOc_wZOJDA130_provenance
{
dgn-np:NP1109757.RAgEpQTxfEUqmxGO09bEs6VvYWTUJsoLXl9hOc_wZOJDA130_assertion
dcterms:description
"[GNE myopathy (also called distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy) is an autosomal recessive myopathy characterised by skeletal muscle atrophy and weakness that preferentially involve the distal 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:24027297
;
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:NP1109757.RAgEpQTxfEUqmxGO09bEs6VvYWTUJsoLXl9hOc_wZOJDA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:09+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" .
}