@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk
> .
@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:NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_head
{
this:
np:hasAssertion
dgn-np:NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_assertion
;
np:hasProvenance
dgn-np:NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_provenance
;
np:hasPublicationInfo
dgn-np:NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_assertion
a
np:Assertion
.
dgn-np:NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_provenance
a
np:Provenance
.
dgn-np:NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_assertion
{
miriam-gene:9169
a
ncit:C16612
.
lld:C0026847
a
ncit:C7057
.
dgn-gda:DGNd4cf18612c3a27349c797a21a682509a
sio:SIO_000628
miriam-gene:9169
,
lld:C0026847
;
a
sio:SIO_001121
.
}
dgn-np:NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_provenance
{
dgn-np:NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_assertion
dcterms:description
"[Since both genes, SMN1 and SIP1, belong to the same pathway and are part of the same protein complex, it is obvious to ask whether mutations within SIP1 are responsible for both the phenotypic variability and the appearance of non-SMN mutated SMA patients.]. 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:10909848
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:49+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" .
}