@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP616558.RApvzAvfRsyaGVdMb02A-UyUFPK3ydxyH7MRfxne8FKEI
> .
@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:NP616558.RApvzAvfRsyaGVdMb02A-UyUFPK3ydxyH7MRfxne8FKEI130_head
{
this:
np:hasAssertion
dgn-np:NP616558.RApvzAvfRsyaGVdMb02A-UyUFPK3ydxyH7MRfxne8FKEI130_assertion
;
np:hasProvenance
dgn-np:NP616558.RApvzAvfRsyaGVdMb02A-UyUFPK3ydxyH7MRfxne8FKEI130_provenance
;
np:hasPublicationInfo
dgn-np:NP616558.RApvzAvfRsyaGVdMb02A-UyUFPK3ydxyH7MRfxne8FKEI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP616558.RApvzAvfRsyaGVdMb02A-UyUFPK3ydxyH7MRfxne8FKEI130_assertion
a
np:Assertion
.
dgn-np:NP616558.RApvzAvfRsyaGVdMb02A-UyUFPK3ydxyH7MRfxne8FKEI130_provenance
a
np:Provenance
.
dgn-np:NP616558.RApvzAvfRsyaGVdMb02A-UyUFPK3ydxyH7MRfxne8FKEI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP616558.RApvzAvfRsyaGVdMb02A-UyUFPK3ydxyH7MRfxne8FKEI130_assertion
{
miriam-gene:5443
a
ncit:C16612
.
lld:C0020615
a
ncit:C7057
.
dgn-gda:DGN54301c52c952652149fe493d141c809a
sio:SIO_000628
miriam-gene:5443
,
lld:C0020615
;
a
sio:SIO_001121
.
}
dgn-np:NP616558.RApvzAvfRsyaGVdMb02A-UyUFPK3ydxyH7MRfxne8FKEI130_provenance
{
dgn-np:NP616558.RApvzAvfRsyaGVdMb02A-UyUFPK3ydxyH7MRfxne8FKEI130_assertion
dcterms:description
"[Based on the clinical features and laboratory findings (the overgrowth syndrome, red hair, hypoglycemia and hypocortisolism) the patient was diagnosed as POMC deficiency and the diagnosis was confirmed by genetic studies.]. 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:19998238
;
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:NP616558.RApvzAvfRsyaGVdMb02A-UyUFPK3ydxyH7MRfxne8FKEI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:12+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" .
}