@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP681619.RAzgOsTdFWA0QBWsoXF7tAj8NgwoQQmxbEGfyeOrvoSqo
> .
@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#
> .
dgn-np:NP681619.RAzgOsTdFWA0QBWsoXF7tAj8NgwoQQmxbEGfyeOrvoSqo130_head
{
this:
np:hasAssertion
dgn-np:NP681619.RAzgOsTdFWA0QBWsoXF7tAj8NgwoQQmxbEGfyeOrvoSqo130_assertion
;
np:hasProvenance
dgn-np:NP681619.RAzgOsTdFWA0QBWsoXF7tAj8NgwoQQmxbEGfyeOrvoSqo130_provenance
;
np:hasPublicationInfo
dgn-np:NP681619.RAzgOsTdFWA0QBWsoXF7tAj8NgwoQQmxbEGfyeOrvoSqo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP681619.RAzgOsTdFWA0QBWsoXF7tAj8NgwoQQmxbEGfyeOrvoSqo130_assertion
a
np:Assertion
.
dgn-np:NP681619.RAzgOsTdFWA0QBWsoXF7tAj8NgwoQQmxbEGfyeOrvoSqo130_provenance
a
np:Provenance
.
dgn-np:NP681619.RAzgOsTdFWA0QBWsoXF7tAj8NgwoQQmxbEGfyeOrvoSqo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP681619.RAzgOsTdFWA0QBWsoXF7tAj8NgwoQQmxbEGfyeOrvoSqo130_assertion
{
miriam-gene:55212
a
ncit:C16612
.
lld:C0752166
a
ncit:C7057
.
dgn-gda:DGNfef9e6e516f74457252535a87ee2fda5
sio:SIO_000628
miriam-gene:55212
,
lld:C0752166
;
a
sio:SIO_001121
.
}
dgn-np:NP681619.RAzgOsTdFWA0QBWsoXF7tAj8NgwoQQmxbEGfyeOrvoSqo130_provenance
{
dgn-np:NP681619.RAzgOsTdFWA0QBWsoXF7tAj8NgwoQQmxbEGfyeOrvoSqo130_assertion
dcterms:description
"[Both MKS and BBS can be caused by mutations in the MKKS or BBS6 gene on chromosome 20p12 and BBS is also associated with mutations in other genes (BBS1, BBS2, BBS4, and BBS7).]. 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:15266619
;
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:NP681619.RAzgOsTdFWA0QBWsoXF7tAj8NgwoQQmxbEGfyeOrvoSqo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:51+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" .
}