@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0
> .
@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 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:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_head
{
this:
np:hasAssertion
dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_assertion
;
np:hasProvenance
dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_provenance
;
np:hasPublicationInfo
dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_assertion
a
np:Assertion
.
dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_provenance
a
np:Provenance
.
dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_assertion
{
miriam-gene:157680
a
ncit:C16612
.
lld:C0265223
a
ncit:C7057
.
dgn-gda:DGN08341f556be743f8bf3bf1cd3378dc58
sio:SIO_000628
miriam-gene:157680
,
lld:C0265223
;
a
sio:SIO_001122
.
}
dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_provenance
{
dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_assertion
dcterms:description
"[A comparison of features among different Cohen syndrome populations with shared linkage to the COH1 locus or known COH1 gene mutations may allow for the determination of improved clinical criteria on which to suspect the diagnosis of Cohen syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:15211651
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:01+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" .
}