@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP622340.RAN06V-ZIE83_aE3QwlkFmOTXXnZMnZyc-EHQw8kkq1E4
> .
@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:NP622340.RAN06V-ZIE83_aE3QwlkFmOTXXnZMnZyc-EHQw8kkq1E4130_head
{
this:
np:hasAssertion
dgn-np:NP622340.RAN06V-ZIE83_aE3QwlkFmOTXXnZMnZyc-EHQw8kkq1E4130_assertion
;
np:hasProvenance
dgn-np:NP622340.RAN06V-ZIE83_aE3QwlkFmOTXXnZMnZyc-EHQw8kkq1E4130_provenance
;
np:hasPublicationInfo
dgn-np:NP622340.RAN06V-ZIE83_aE3QwlkFmOTXXnZMnZyc-EHQw8kkq1E4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP622340.RAN06V-ZIE83_aE3QwlkFmOTXXnZMnZyc-EHQw8kkq1E4130_assertion
a
np:Assertion
.
dgn-np:NP622340.RAN06V-ZIE83_aE3QwlkFmOTXXnZMnZyc-EHQw8kkq1E4130_provenance
a
np:Provenance
.
dgn-np:NP622340.RAN06V-ZIE83_aE3QwlkFmOTXXnZMnZyc-EHQw8kkq1E4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP622340.RAN06V-ZIE83_aE3QwlkFmOTXXnZMnZyc-EHQw8kkq1E4130_assertion
{
miriam-gene:23503
a
ncit:C16612
.
lld:C0854193
a
ncit:C7057
.
dgn-gda:DGNaf76159cd1c1f753fd6df8e43fa95eb7
sio:SIO_000628
miriam-gene:23503
,
lld:C0854193
;
a
sio:SIO_001121
.
}
dgn-np:NP622340.RAN06V-ZIE83_aE3QwlkFmOTXXnZMnZyc-EHQw8kkq1E4130_provenance
{
dgn-np:NP622340.RAN06V-ZIE83_aE3QwlkFmOTXXnZMnZyc-EHQw8kkq1E4130_assertion
dcterms:description
"[Our study highlights the phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with HSP and significantly reduces the SPG15 locus.]. 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:17661097
;
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:NP622340.RAN06V-ZIE83_aE3QwlkFmOTXXnZMnZyc-EHQw8kkq1E4130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:27+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" .
}