@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1050074.RAppK2dAnhtHAVOH4DA-xK-PlDOaTF16CLnbNtF1kE5lk
> .
@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:NP1050074.RAppK2dAnhtHAVOH4DA-xK-PlDOaTF16CLnbNtF1kE5lk130_head
{
this:
np:hasAssertion
dgn-np:NP1050074.RAppK2dAnhtHAVOH4DA-xK-PlDOaTF16CLnbNtF1kE5lk130_assertion
;
np:hasProvenance
dgn-np:NP1050074.RAppK2dAnhtHAVOH4DA-xK-PlDOaTF16CLnbNtF1kE5lk130_provenance
;
np:hasPublicationInfo
dgn-np:NP1050074.RAppK2dAnhtHAVOH4DA-xK-PlDOaTF16CLnbNtF1kE5lk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1050074.RAppK2dAnhtHAVOH4DA-xK-PlDOaTF16CLnbNtF1kE5lk130_assertion
a
np:Assertion
.
dgn-np:NP1050074.RAppK2dAnhtHAVOH4DA-xK-PlDOaTF16CLnbNtF1kE5lk130_provenance
a
np:Provenance
.
dgn-np:NP1050074.RAppK2dAnhtHAVOH4DA-xK-PlDOaTF16CLnbNtF1kE5lk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1050074.RAppK2dAnhtHAVOH4DA-xK-PlDOaTF16CLnbNtF1kE5lk130_assertion
{
miriam-gene:203228
a
ncit:C16612
.
lld:C0751072
a
ncit:C7057
.
dgn-gda:DGN206ceb36be029d261daa307c5fd43fb6
sio:SIO_000628
miriam-gene:203228
,
lld:C0751072
;
a
sio:SIO_001121
.
}
dgn-np:NP1050074.RAppK2dAnhtHAVOH4DA-xK-PlDOaTF16CLnbNtF1kE5lk130_provenance
{
dgn-np:NP1050074.RAppK2dAnhtHAVOH4DA-xK-PlDOaTF16CLnbNtF1kE5lk130_assertion
dcterms:description
"[Genetic analysis revealed the hexanucleotide repeat expansion GGGGCC within the regulatory region of the gene C9orf72 as the most common cause of familial amyotrophic lateral sclerosis and the second most common cause of frontotemporal lobar degeneration.]. 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:23381195
;
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:NP1050074.RAppK2dAnhtHAVOH4DA-xK-PlDOaTF16CLnbNtF1kE5lk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:42+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" .
}