@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg
> .
@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:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_head
{
this:
np:hasAssertion
dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_assertion
;
np:hasProvenance
dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_provenance
;
np:hasPublicationInfo
dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_assertion
a
np:Assertion
.
dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_provenance
a
np:Provenance
.
dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_assertion
{
miriam-gene:51218
a
ncit:C16612
.
lld:C0751748
a
ncit:C7057
.
dgn-gda:DGNef646dc2e22c8a1968234254fb5585e9
sio:SIO_000628
miriam-gene:51218
,
lld:C0751748
;
a
sio:SIO_001121
.
}
dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_provenance
{
dgn-np:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_assertion
dcterms:description
"[Some MR phenotypes related to specific gene mutations were found, such as bilateral hypertrophy of inferior olives in patients harboring POLG and SURF1 mutations, and central lesions in the cervical spinal cord in patients with nonketotic hyperglycinemia harboring GLRX5 gene mutation.]. 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:25476511
;
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:NP1244953.RAEES6a62AEfKQVUhz_c00AaUHG8B7f4UUXwRMFQ8mkNg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:10+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" .
}