@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP501659.RAXyArsMlcpH46enaiUyfgkc2ZJM39aw5k3sNatbB0lfA
> .
@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:NP501659.RAXyArsMlcpH46enaiUyfgkc2ZJM39aw5k3sNatbB0lfA130_head
{
this:
np:hasAssertion
dgn-np:NP501659.RAXyArsMlcpH46enaiUyfgkc2ZJM39aw5k3sNatbB0lfA130_assertion
;
np:hasProvenance
dgn-np:NP501659.RAXyArsMlcpH46enaiUyfgkc2ZJM39aw5k3sNatbB0lfA130_provenance
;
np:hasPublicationInfo
dgn-np:NP501659.RAXyArsMlcpH46enaiUyfgkc2ZJM39aw5k3sNatbB0lfA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP501659.RAXyArsMlcpH46enaiUyfgkc2ZJM39aw5k3sNatbB0lfA130_assertion
a
np:Assertion
.
dgn-np:NP501659.RAXyArsMlcpH46enaiUyfgkc2ZJM39aw5k3sNatbB0lfA130_provenance
a
np:Provenance
.
dgn-np:NP501659.RAXyArsMlcpH46enaiUyfgkc2ZJM39aw5k3sNatbB0lfA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP501659.RAXyArsMlcpH46enaiUyfgkc2ZJM39aw5k3sNatbB0lfA130_assertion
{
miriam-gene:10020
a
ncit:C16612
.
lld:C1853926
a
ncit:C7057
.
dgn-gda:DGN5128058f6ea30f46d46e950e052f6fec
sio:SIO_000628
miriam-gene:10020
,
lld:C1853926
;
a
sio:SIO_001122
.
}
dgn-np:NP501659.RAXyArsMlcpH46enaiUyfgkc2ZJM39aw5k3sNatbB0lfA130_provenance
{
dgn-np:NP501659.RAXyArsMlcpH46enaiUyfgkc2ZJM39aw5k3sNatbB0lfA130_assertion
dcterms:description
"[We developed individual GNE and MNK enzymatic assays and determined reduced activities in cultured fibroblasts of patients, with HIBM harboring missense mutations in either or both the GNE and MNK enzymatic domains.]. 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:15987957
;
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:NP501659.RAXyArsMlcpH46enaiUyfgkc2ZJM39aw5k3sNatbB0lfA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:32+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: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" .
}