@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP91989.RAxgFy9Xe2Un9aE39klSXmNKu5E8Fi6PRB6S_dNkLrDHM
> .
@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:NP91989.RAxgFy9Xe2Un9aE39klSXmNKu5E8Fi6PRB6S_dNkLrDHM130_head
{
this:
np:hasAssertion
dgn-np:NP91989.RAxgFy9Xe2Un9aE39klSXmNKu5E8Fi6PRB6S_dNkLrDHM130_assertion
;
np:hasProvenance
dgn-np:NP91989.RAxgFy9Xe2Un9aE39klSXmNKu5E8Fi6PRB6S_dNkLrDHM130_provenance
;
np:hasPublicationInfo
dgn-np:NP91989.RAxgFy9Xe2Un9aE39klSXmNKu5E8Fi6PRB6S_dNkLrDHM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP91989.RAxgFy9Xe2Un9aE39klSXmNKu5E8Fi6PRB6S_dNkLrDHM130_assertion
a
np:Assertion
.
dgn-np:NP91989.RAxgFy9Xe2Un9aE39klSXmNKu5E8Fi6PRB6S_dNkLrDHM130_provenance
a
np:Provenance
.
dgn-np:NP91989.RAxgFy9Xe2Un9aE39klSXmNKu5E8Fi6PRB6S_dNkLrDHM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP91989.RAxgFy9Xe2Un9aE39klSXmNKu5E8Fi6PRB6S_dNkLrDHM130_assertion
{
miriam-gene:6928
a
ncit:C16612
.
lld:C0022658
a
ncit:C7057
.
dgn-gda:DGNe94c8a5488c0835b8bd005c3cbe36f1b
sio:SIO_000628
miriam-gene:6928
,
lld:C0022658
;
a
sio:SIO_001122
.
}
dgn-np:NP91989.RAxgFy9Xe2Un9aE39klSXmNKu5E8Fi6PRB6S_dNkLrDHM130_provenance
{
dgn-np:NP91989.RAxgFy9Xe2Un9aE39klSXmNKu5E8Fi6PRB6S_dNkLrDHM130_assertion
dcterms:description
"[This large series showed that the severity of the renal disease associated with HNF1B mutations was extremely variable (from prenatal renal failure to normal renal function in adulthood) and was not correlated with the genotype.]. 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:20378641
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP91989.RAxgFy9Xe2Un9aE39klSXmNKu5E8Fi6PRB6S_dNkLrDHM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:45+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" .
}