@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP404934.RA_Kn-KpY36JMK-hGG6rwTCkYujfJ7KIfI3QVADRYm-sg
> .
@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:NP404934.RA_Kn-KpY36JMK-hGG6rwTCkYujfJ7KIfI3QVADRYm-sg130_head
{
this:
np:hasAssertion
dgn-np:NP404934.RA_Kn-KpY36JMK-hGG6rwTCkYujfJ7KIfI3QVADRYm-sg130_assertion
;
np:hasProvenance
dgn-np:NP404934.RA_Kn-KpY36JMK-hGG6rwTCkYujfJ7KIfI3QVADRYm-sg130_provenance
;
np:hasPublicationInfo
dgn-np:NP404934.RA_Kn-KpY36JMK-hGG6rwTCkYujfJ7KIfI3QVADRYm-sg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP404934.RA_Kn-KpY36JMK-hGG6rwTCkYujfJ7KIfI3QVADRYm-sg130_assertion
a
np:Assertion
.
dgn-np:NP404934.RA_Kn-KpY36JMK-hGG6rwTCkYujfJ7KIfI3QVADRYm-sg130_provenance
a
np:Provenance
.
dgn-np:NP404934.RA_Kn-KpY36JMK-hGG6rwTCkYujfJ7KIfI3QVADRYm-sg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP404934.RA_Kn-KpY36JMK-hGG6rwTCkYujfJ7KIfI3QVADRYm-sg130_assertion
{
miriam-gene:51259
a
ncit:C16612
.
lld:C0431399
a
ncit:C7057
.
dgn-gda:DGNfcb5ceef1c863792317c6f1d09b852ea
sio:SIO_000628
miriam-gene:51259
,
lld:C0431399
;
a
sio:SIO_001121
.
}
dgn-np:NP404934.RA_Kn-KpY36JMK-hGG6rwTCkYujfJ7KIfI3QVADRYm-sg130_provenance
{
dgn-np:NP404934.RA_Kn-KpY36JMK-hGG6rwTCkYujfJ7KIfI3QVADRYm-sg130_assertion
dcterms:description
"[We have mapped this condition to the pericentromeric region of chromosome 11 and have named the locus CORS2. The acronym CORS is proposed for all loci associated with JS, CORSs, and related phenotypes sharing the MTI, because this neuroradiological sign seems to be the unifying feature of these clinically heterogeneous syndromes.]. 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:12908130
;
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:NP404934.RA_Kn-KpY36JMK-hGG6rwTCkYujfJ7KIfI3QVADRYm-sg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:48+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" .
}