@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP51234.RAV42SA5LdR86tj3kLzUIqOP1C-U8DAYdyB1egcsQlgYU
> .
@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:NP51234.RAV42SA5LdR86tj3kLzUIqOP1C-U8DAYdyB1egcsQlgYU130_head
{
this:
np:hasAssertion
dgn-np:NP51234.RAV42SA5LdR86tj3kLzUIqOP1C-U8DAYdyB1egcsQlgYU130_assertion
;
np:hasProvenance
dgn-np:NP51234.RAV42SA5LdR86tj3kLzUIqOP1C-U8DAYdyB1egcsQlgYU130_provenance
;
np:hasPublicationInfo
dgn-np:NP51234.RAV42SA5LdR86tj3kLzUIqOP1C-U8DAYdyB1egcsQlgYU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP51234.RAV42SA5LdR86tj3kLzUIqOP1C-U8DAYdyB1egcsQlgYU130_assertion
a
np:Assertion
.
dgn-np:NP51234.RAV42SA5LdR86tj3kLzUIqOP1C-U8DAYdyB1egcsQlgYU130_provenance
a
np:Provenance
.
dgn-np:NP51234.RAV42SA5LdR86tj3kLzUIqOP1C-U8DAYdyB1egcsQlgYU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP51234.RAV42SA5LdR86tj3kLzUIqOP1C-U8DAYdyB1egcsQlgYU130_assertion
{
miriam-gene:6647
a
ncit:C16612
.
lld:C0002736
a
ncit:C7057
.
dgn-gda:DGNbed254de795ad05518a984f7e0498370
sio:SIO_000628
miriam-gene:6647
,
lld:C0002736
;
a
sio:SIO_001122
.
}
dgn-np:NP51234.RAV42SA5LdR86tj3kLzUIqOP1C-U8DAYdyB1egcsQlgYU130_provenance
{
dgn-np:NP51234.RAV42SA5LdR86tj3kLzUIqOP1C-U8DAYdyB1egcsQlgYU130_assertion
dcterms:description
"[Clinical comparison of SOD1, TARDBP, FUS and other familial ALS patients (with no mutation in the screened genes) revealed differences in site of onset (predominantly lower limbs for SOD1 and upper limbs for TARDBP mutations), age of onset (younger with FUS mutations), and in lifespan (shorter for FUS carriers).]. 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:20577002
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP51234.RAV42SA5LdR86tj3kLzUIqOP1C-U8DAYdyB1egcsQlgYU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:23+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" .
}