@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP661381.RAY5FrpfVb8pPdXY7aey6UYNtQu0Y2QqoBxs4EznIeLUU
> .
@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:NP661381.RAY5FrpfVb8pPdXY7aey6UYNtQu0Y2QqoBxs4EznIeLUU130_head
{
this:
np:hasAssertion
dgn-np:NP661381.RAY5FrpfVb8pPdXY7aey6UYNtQu0Y2QqoBxs4EznIeLUU130_assertion
;
np:hasProvenance
dgn-np:NP661381.RAY5FrpfVb8pPdXY7aey6UYNtQu0Y2QqoBxs4EznIeLUU130_provenance
;
np:hasPublicationInfo
dgn-np:NP661381.RAY5FrpfVb8pPdXY7aey6UYNtQu0Y2QqoBxs4EznIeLUU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP661381.RAY5FrpfVb8pPdXY7aey6UYNtQu0Y2QqoBxs4EznIeLUU130_assertion
a
np:Assertion
.
dgn-np:NP661381.RAY5FrpfVb8pPdXY7aey6UYNtQu0Y2QqoBxs4EznIeLUU130_provenance
a
np:Provenance
.
dgn-np:NP661381.RAY5FrpfVb8pPdXY7aey6UYNtQu0Y2QqoBxs4EznIeLUU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP661381.RAY5FrpfVb8pPdXY7aey6UYNtQu0Y2QqoBxs4EznIeLUU130_assertion
{
miriam-gene:5573
a
ncit:C16612
.
lld:C0023321
a
ncit:C7057
.
dgn-gda:DGN05f11a3d103a2ae4851ff81017ff1395
sio:SIO_000628
miriam-gene:5573
,
lld:C0023321
;
a
sio:SIO_001121
.
}
dgn-np:NP661381.RAY5FrpfVb8pPdXY7aey6UYNtQu0Y2QqoBxs4EznIeLUU130_provenance
{
dgn-np:NP661381.RAY5FrpfVb8pPdXY7aey6UYNtQu0Y2QqoBxs4EznIeLUU130_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-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:NP661381.RAY5FrpfVb8pPdXY7aey6UYNtQu0Y2QqoBxs4EznIeLUU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:39+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" .
}