@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP941343.RAnqgVrBVFXI5PHFmmBT26yCj26Il-W46yQw6TPTtkeTw
> .
@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:NP941343.RAnqgVrBVFXI5PHFmmBT26yCj26Il-W46yQw6TPTtkeTw130_head
{
this:
np:hasAssertion
dgn-np:NP941343.RAnqgVrBVFXI5PHFmmBT26yCj26Il-W46yQw6TPTtkeTw130_assertion
;
np:hasProvenance
dgn-np:NP941343.RAnqgVrBVFXI5PHFmmBT26yCj26Il-W46yQw6TPTtkeTw130_provenance
;
np:hasPublicationInfo
dgn-np:NP941343.RAnqgVrBVFXI5PHFmmBT26yCj26Il-W46yQw6TPTtkeTw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP941343.RAnqgVrBVFXI5PHFmmBT26yCj26Il-W46yQw6TPTtkeTw130_assertion
a
np:Assertion
.
dgn-np:NP941343.RAnqgVrBVFXI5PHFmmBT26yCj26Il-W46yQw6TPTtkeTw130_provenance
a
np:Provenance
.
dgn-np:NP941343.RAnqgVrBVFXI5PHFmmBT26yCj26Il-W46yQw6TPTtkeTw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP941343.RAnqgVrBVFXI5PHFmmBT26yCj26Il-W46yQw6TPTtkeTw130_assertion
{
miriam-gene:5573
a
ncit:C16612
.
lld:C0023321
a
ncit:C7057
.
dgn-gda:DGN1bf207739b916257b62aa6efcd5a6408
sio:SIO_000628
miriam-gene:5573
,
lld:C0023321
;
a
sio:SIO_001122
.
}
dgn-np:NP941343.RAnqgVrBVFXI5PHFmmBT26yCj26Il-W46yQw6TPTtkeTw130_provenance
{
dgn-np:NP941343.RAnqgVrBVFXI5PHFmmBT26yCj26Il-W46yQw6TPTtkeTw130_assertion
dcterms:description
"[A base substitution (c.439A>G/p.S147G) in PRKAR1A was identified in the proposita, in the three others with PPNAD, in the proposita's twin daughters who had lentigines but no evidence of hypercortisolism, and in five other family members, including one without lentigines or evidence of hypercortisolism.]. 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:22112814
;
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:NP941343.RAnqgVrBVFXI5PHFmmBT26yCj26Il-W46yQw6TPTtkeTw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:51+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: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" .
}