@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY
> .
@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:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_head
{
this:
np:hasAssertion
dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_assertion
;
np:hasProvenance
dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_provenance
;
np:hasPublicationInfo
dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_assertion
a
np:Assertion
.
dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_provenance
a
np:Provenance
.
dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_assertion
{
miriam-gene:6647
a
ncit:C16612
.
lld:C0751072
a
ncit:C7057
.
dgn-gda:DGN7d78b4b88639806b08c6c7a29a77148f
sio:SIO_000628
miriam-gene:6647
,
lld:C0751072
;
a
sio:SIO_001121
.
}
dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_provenance
{
dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_assertion
dcterms:description
"[An abnormal expansion of a GGGGCC hexanucleotide repeat in a non-coding region of the chromosome 9 open reading frame 72 gene (C9ORF72) is the most common genetic abnormality in familial and sporadic FTLD and ALS and the cause in most families where both, FTLD and ALS, are inherited.]. 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:24356984
;
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:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:22+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" .
}