@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP742122.RAzu0twuO4X5fkeP4DQWfKe30AeIk7y4A5SXKNjPNvtCc
> .
@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:NP742122.RAzu0twuO4X5fkeP4DQWfKe30AeIk7y4A5SXKNjPNvtCc130_head
{
this:
np:hasAssertion
dgn-np:NP742122.RAzu0twuO4X5fkeP4DQWfKe30AeIk7y4A5SXKNjPNvtCc130_assertion
;
np:hasProvenance
dgn-np:NP742122.RAzu0twuO4X5fkeP4DQWfKe30AeIk7y4A5SXKNjPNvtCc130_provenance
;
np:hasPublicationInfo
dgn-np:NP742122.RAzu0twuO4X5fkeP4DQWfKe30AeIk7y4A5SXKNjPNvtCc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP742122.RAzu0twuO4X5fkeP4DQWfKe30AeIk7y4A5SXKNjPNvtCc130_assertion
a
np:Assertion
.
dgn-np:NP742122.RAzu0twuO4X5fkeP4DQWfKe30AeIk7y4A5SXKNjPNvtCc130_provenance
a
np:Provenance
.
dgn-np:NP742122.RAzu0twuO4X5fkeP4DQWfKe30AeIk7y4A5SXKNjPNvtCc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP742122.RAzu0twuO4X5fkeP4DQWfKe30AeIk7y4A5SXKNjPNvtCc130_assertion
{
miriam-gene:6927
a
ncit:C16612
.
lld:C1691228
a
ncit:C7057
.
dgn-gda:DGNd609ae571858a9a7ab80d92aae5639c2
sio:SIO_000628
miriam-gene:6927
,
lld:C1691228
;
a
sio:SIO_001121
.
}
dgn-np:NP742122.RAzu0twuO4X5fkeP4DQWfKe30AeIk7y4A5SXKNjPNvtCc130_provenance
{
dgn-np:NP742122.RAzu0twuO4X5fkeP4DQWfKe30AeIk7y4A5SXKNjPNvtCc130_assertion
dcterms:description
"[Deletions in chromosome 17q12 encompassing the HNF1 beta gene cause cystic renal disease and maturity onset diabetes of the young, and have been recently described as the first recurrent genomic deletion leading to diabetes.]. 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:19844256
;
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:NP742122.RAzu0twuO4X5fkeP4DQWfKe30AeIk7y4A5SXKNjPNvtCc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:30+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" .
}