@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1377059.RARj4lEqZkl5lXY3dxjiCnyD8P24Bq60YijollTbitDC8
> .
@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:NP1377059.RARj4lEqZkl5lXY3dxjiCnyD8P24Bq60YijollTbitDC8130_head
{
this:
np:hasAssertion
dgn-np:NP1377059.RARj4lEqZkl5lXY3dxjiCnyD8P24Bq60YijollTbitDC8130_assertion
;
np:hasProvenance
dgn-np:NP1377059.RARj4lEqZkl5lXY3dxjiCnyD8P24Bq60YijollTbitDC8130_provenance
;
np:hasPublicationInfo
dgn-np:NP1377059.RARj4lEqZkl5lXY3dxjiCnyD8P24Bq60YijollTbitDC8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1377059.RARj4lEqZkl5lXY3dxjiCnyD8P24Bq60YijollTbitDC8130_assertion
a
np:Assertion
.
dgn-np:NP1377059.RARj4lEqZkl5lXY3dxjiCnyD8P24Bq60YijollTbitDC8130_provenance
a
np:Provenance
.
dgn-np:NP1377059.RARj4lEqZkl5lXY3dxjiCnyD8P24Bq60YijollTbitDC8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1377059.RARj4lEqZkl5lXY3dxjiCnyD8P24Bq60YijollTbitDC8130_assertion
{
miriam-gene:585
a
ncit:C16612
.
lld:C0752166
a
ncit:C7057
.
dgn-gda:DGNa725ade9f9088d74be7d64a55990400b
sio:SIO_000628
miriam-gene:585
,
lld:C0752166
;
a
sio:SIO_001121
.
}
dgn-np:NP1377059.RARj4lEqZkl5lXY3dxjiCnyD8P24Bq60YijollTbitDC8130_provenance
{
dgn-np:NP1377059.RARj4lEqZkl5lXY3dxjiCnyD8P24Bq60YijollTbitDC8130_assertion
dcterms:description
"[The disorder showed statistically significant genetic linkage to the BBS4 locus on chromosome 15 in the affected siblings in two of the families, but the clinical features in these patients did not differ from the other cases of Bardet-Biedl syndrome.]. 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:9227203
;
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:NP1377059.RARj4lEqZkl5lXY3dxjiCnyD8P24Bq60YijollTbitDC8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:10+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" .
}