@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP351227.RAR6UvQUlYz4zyvba3RN2l0x62s_PUkD0KtClrRFP1JZ8
> .
@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:NP351227.RAR6UvQUlYz4zyvba3RN2l0x62s_PUkD0KtClrRFP1JZ8130_head
{
this:
np:hasAssertion
dgn-np:NP351227.RAR6UvQUlYz4zyvba3RN2l0x62s_PUkD0KtClrRFP1JZ8130_assertion
;
np:hasProvenance
dgn-np:NP351227.RAR6UvQUlYz4zyvba3RN2l0x62s_PUkD0KtClrRFP1JZ8130_provenance
;
np:hasPublicationInfo
dgn-np:NP351227.RAR6UvQUlYz4zyvba3RN2l0x62s_PUkD0KtClrRFP1JZ8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP351227.RAR6UvQUlYz4zyvba3RN2l0x62s_PUkD0KtClrRFP1JZ8130_assertion
a
np:Assertion
.
dgn-np:NP351227.RAR6UvQUlYz4zyvba3RN2l0x62s_PUkD0KtClrRFP1JZ8130_provenance
a
np:Provenance
.
dgn-np:NP351227.RAR6UvQUlYz4zyvba3RN2l0x62s_PUkD0KtClrRFP1JZ8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP351227.RAR6UvQUlYz4zyvba3RN2l0x62s_PUkD0KtClrRFP1JZ8130_assertion
{
miriam-gene:1890
a
ncit:C16612
.
lld:C0751401
a
ncit:C7057
.
dgn-gda:DGNc80ac65f409b0e30bda9c831f893a95b
sio:SIO_000628
miriam-gene:1890
,
lld:C0751401
;
a
sio:SIO_001121
.
}
dgn-np:NP351227.RAR6UvQUlYz4zyvba3RN2l0x62s_PUkD0KtClrRFP1JZ8130_provenance
{
dgn-np:NP351227.RAR6UvQUlYz4zyvba3RN2l0x62s_PUkD0KtClrRFP1JZ8130_assertion
dcterms:description
"[Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive disease caused by mutation of the thymidine phosphorylase gene, and is characterised by ophthalmoparesis, peripheral neuropathy, leukoencephalopathy, gastrointestinal symptoms and abnormal mitochondria in muscle cells.]. 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:20546644
;
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:NP351227.RAR6UvQUlYz4zyvba3RN2l0x62s_PUkD0KtClrRFP1JZ8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:26+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" .
}