@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1138528.RAMSo3r4-SiBRLc6Sx4yEjG7xELa4wnp60RH9zw7GmdIs
> .
@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:NP1138528.RAMSo3r4-SiBRLc6Sx4yEjG7xELa4wnp60RH9zw7GmdIs130_head
{
this:
np:hasAssertion
dgn-np:NP1138528.RAMSo3r4-SiBRLc6Sx4yEjG7xELa4wnp60RH9zw7GmdIs130_assertion
;
np:hasProvenance
dgn-np:NP1138528.RAMSo3r4-SiBRLc6Sx4yEjG7xELa4wnp60RH9zw7GmdIs130_provenance
;
np:hasPublicationInfo
dgn-np:NP1138528.RAMSo3r4-SiBRLc6Sx4yEjG7xELa4wnp60RH9zw7GmdIs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1138528.RAMSo3r4-SiBRLc6Sx4yEjG7xELa4wnp60RH9zw7GmdIs130_assertion
a
np:Assertion
.
dgn-np:NP1138528.RAMSo3r4-SiBRLc6Sx4yEjG7xELa4wnp60RH9zw7GmdIs130_provenance
a
np:Provenance
.
dgn-np:NP1138528.RAMSo3r4-SiBRLc6Sx4yEjG7xELa4wnp60RH9zw7GmdIs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1138528.RAMSo3r4-SiBRLc6Sx4yEjG7xELa4wnp60RH9zw7GmdIs130_assertion
{
miriam-gene:203228
a
ncit:C16612
.
lld:C0751072
a
ncit:C7057
.
dgn-gda:DGNc11861f9b0ffa289beae27f9be96120d
sio:SIO_000628
miriam-gene:203228
,
lld:C0751072
;
a
sio:SIO_001121
.
}
dgn-np:NP1138528.RAMSo3r4-SiBRLc6Sx4yEjG7xELa4wnp60RH9zw7GmdIs130_provenance
{
dgn-np:NP1138528.RAMSo3r4-SiBRLc6Sx4yEjG7xELa4wnp60RH9zw7GmdIs130_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:NP1138528.RAMSo3r4-SiBRLc6Sx4yEjG7xELa4wnp60RH9zw7GmdIs130_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" .
}