@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP126724.RAPm60ct_aJm5BvHXQmZx2lJdaDd6xw5X5qynNsGKhCkg
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP126724.RAPm60ct_aJm5BvHXQmZx2lJdaDd6xw5X5qynNsGKhCkg130_head
{
this:
np:hasAssertion
dgn-np:NP126724.RAPm60ct_aJm5BvHXQmZx2lJdaDd6xw5X5qynNsGKhCkg130_assertion
;
np:hasProvenance
dgn-np:NP126724.RAPm60ct_aJm5BvHXQmZx2lJdaDd6xw5X5qynNsGKhCkg130_provenance
;
np:hasPublicationInfo
dgn-np:NP126724.RAPm60ct_aJm5BvHXQmZx2lJdaDd6xw5X5qynNsGKhCkg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP126724.RAPm60ct_aJm5BvHXQmZx2lJdaDd6xw5X5qynNsGKhCkg130_assertion
a
np:Assertion
.
dgn-np:NP126724.RAPm60ct_aJm5BvHXQmZx2lJdaDd6xw5X5qynNsGKhCkg130_provenance
a
np:Provenance
.
dgn-np:NP126724.RAPm60ct_aJm5BvHXQmZx2lJdaDd6xw5X5qynNsGKhCkg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP126724.RAPm60ct_aJm5BvHXQmZx2lJdaDd6xw5X5qynNsGKhCkg130_assertion
{
miriam-gene:6647
a
ncit:C16612
.
lld:C0013080
a
ncit:C7057
.
dgn-gda:DGN05d931053618960ecceac1d908817773
sio:SIO_000628
miriam-gene:6647
,
lld:C0013080
;
a
sio:SIO_001122
.
}
dgn-np:NP126724.RAPm60ct_aJm5BvHXQmZx2lJdaDd6xw5X5qynNsGKhCkg130_provenance
{
dgn-np:NP126724.RAPm60ct_aJm5BvHXQmZx2lJdaDd6xw5X5qynNsGKhCkg130_assertion
dcterms:description
"[The missense mutation of SOD1 gene in two of the three alleles could have increased its toxic effects in the Down syndrome patient leading to an earlier onset and rapid progression of the 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:17624778
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP126724.RAPm60ct_aJm5BvHXQmZx2lJdaDd6xw5X5qynNsGKhCkg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:06+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}