@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_assertion
;
np:hasProvenance
dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_provenance
;
np:hasPublicationInfo
dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_assertion
a
np:Assertion
.
dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_provenance
a
np:Provenance
.
dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_assertion
{
miriam-gene:4286
a
ncit:C16612
.
lld:C0078917
a
ncit:C7057
.
dgn-gda:DGN7e1d31cb1d27e467b934df7f40058713
sio:SIO_000628
miriam-gene:4286
,
lld:C0078917
;
a
sio:SIO_001121
.
}
dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_provenance
{
dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_assertion
dcterms:description
"[The clinical presentation of WS is highly variable, and we believe that Tietz syndrome and WS2 with ocular albinism (OA) are likely two variations of WS2 due to the presence of modifiers.]. 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:19938076
;
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:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:50+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" .
}