@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1262053.RAXrLg9UffkL7Su9REO81kGzHd0g_XjJW0cBfeg35a6WM
> .
@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:NP1262053.RAXrLg9UffkL7Su9REO81kGzHd0g_XjJW0cBfeg35a6WM130_head
{
this:
np:hasAssertion
dgn-np:NP1262053.RAXrLg9UffkL7Su9REO81kGzHd0g_XjJW0cBfeg35a6WM130_assertion
;
np:hasProvenance
dgn-np:NP1262053.RAXrLg9UffkL7Su9REO81kGzHd0g_XjJW0cBfeg35a6WM130_provenance
;
np:hasPublicationInfo
dgn-np:NP1262053.RAXrLg9UffkL7Su9REO81kGzHd0g_XjJW0cBfeg35a6WM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1262053.RAXrLg9UffkL7Su9REO81kGzHd0g_XjJW0cBfeg35a6WM130_assertion
a
np:Assertion
.
dgn-np:NP1262053.RAXrLg9UffkL7Su9REO81kGzHd0g_XjJW0cBfeg35a6WM130_provenance
a
np:Provenance
.
dgn-np:NP1262053.RAXrLg9UffkL7Su9REO81kGzHd0g_XjJW0cBfeg35a6WM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1262053.RAXrLg9UffkL7Su9REO81kGzHd0g_XjJW0cBfeg35a6WM130_assertion
{
miriam-gene:51142
a
ncit:C16612
.
lld:C3489791
a
ncit:C7057
.
dgn-gda:DGN29db01df0a2c14c20050dc01319209af
sio:SIO_000628
miriam-gene:51142
,
lld:C3489791
;
a
sio:SIO_001121
.
}
dgn-np:NP1262053.RAXrLg9UffkL7Su9REO81kGzHd0g_XjJW0cBfeg35a6WM130_provenance
{
dgn-np:NP1262053.RAXrLg9UffkL7Su9REO81kGzHd0g_XjJW0cBfeg35a6WM130_assertion
dcterms:description
"[Further genetic studies in other populations are needed to confirm the pathogenicity of CHCHD2 mutations in autosomal dominant Parkinson's disease and susceptibility for sporadic Parkinson's disease, and further functional studies are needed to understand how mutant CHCHD2 might play a part in the pathophysiology of Parkinson's disease.]. 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:25662902
;
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:NP1262053.RAXrLg9UffkL7Su9REO81kGzHd0g_XjJW0cBfeg35a6WM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:18+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" .
}