@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP57533.RAHr2PWRPgFgM_0DZn8JCuKzhHa8fj0NBGh6I-zU1jfMU
> .
@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:NP57533.RAHr2PWRPgFgM_0DZn8JCuKzhHa8fj0NBGh6I-zU1jfMU130_head
{
this:
np:hasAssertion
dgn-np:NP57533.RAHr2PWRPgFgM_0DZn8JCuKzhHa8fj0NBGh6I-zU1jfMU130_assertion
;
np:hasProvenance
dgn-np:NP57533.RAHr2PWRPgFgM_0DZn8JCuKzhHa8fj0NBGh6I-zU1jfMU130_provenance
;
np:hasPublicationInfo
dgn-np:NP57533.RAHr2PWRPgFgM_0DZn8JCuKzhHa8fj0NBGh6I-zU1jfMU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP57533.RAHr2PWRPgFgM_0DZn8JCuKzhHa8fj0NBGh6I-zU1jfMU130_assertion
a
np:Assertion
.
dgn-np:NP57533.RAHr2PWRPgFgM_0DZn8JCuKzhHa8fj0NBGh6I-zU1jfMU130_provenance
a
np:Provenance
.
dgn-np:NP57533.RAHr2PWRPgFgM_0DZn8JCuKzhHa8fj0NBGh6I-zU1jfMU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP57533.RAHr2PWRPgFgM_0DZn8JCuKzhHa8fj0NBGh6I-zU1jfMU130_assertion
{
miriam-gene:3290
a
ncit:C16612
.
lld:C0032460
a
ncit:C7057
.
dgn-gda:DGN97acb5ed68bdbb1744369819f5e8730f
sio:SIO_000628
miriam-gene:3290
,
lld:C0032460
;
a
sio:SIO_001122
.
}
dgn-np:NP57533.RAHr2PWRPgFgM_0DZn8JCuKzhHa8fj0NBGh6I-zU1jfMU130_provenance
{
dgn-np:NP57533.RAHr2PWRPgFgM_0DZn8JCuKzhHa8fj0NBGh6I-zU1jfMU130_assertion
dcterms:description
"[ Digenic triallelic genotypes of the H6PD R453Q variant and HSD11B1 83557insA mutation do not always cause CRD. On the contrary, the H6PD R453Q variant is associated with PCOS and might influence its phenotype by influencing adrenal activity.]. 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:15827106
;
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:NP57533.RAHr2PWRPgFgM_0DZn8JCuKzhHa8fj0NBGh6I-zU1jfMU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:27+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" .
}