@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP231030.RA8DB7_sVhXtOn54P_6PLt7nVb3M1ZPusif4fKW72fnm4
> .
@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/v3.0.0/void/
> .
dgn-np:NP231030.RA8DB7_sVhXtOn54P_6PLt7nVb3M1ZPusif4fKW72fnm4130_head
{
this:
np:hasAssertion
dgn-np:NP231030.RA8DB7_sVhXtOn54P_6PLt7nVb3M1ZPusif4fKW72fnm4130_assertion
;
np:hasProvenance
dgn-np:NP231030.RA8DB7_sVhXtOn54P_6PLt7nVb3M1ZPusif4fKW72fnm4130_provenance
;
np:hasPublicationInfo
dgn-np:NP231030.RA8DB7_sVhXtOn54P_6PLt7nVb3M1ZPusif4fKW72fnm4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP231030.RA8DB7_sVhXtOn54P_6PLt7nVb3M1ZPusif4fKW72fnm4130_assertion
a
np:Assertion
.
dgn-np:NP231030.RA8DB7_sVhXtOn54P_6PLt7nVb3M1ZPusif4fKW72fnm4130_provenance
a
np:Provenance
.
dgn-np:NP231030.RA8DB7_sVhXtOn54P_6PLt7nVb3M1ZPusif4fKW72fnm4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP231030.RA8DB7_sVhXtOn54P_6PLt7nVb3M1ZPusif4fKW72fnm4130_assertion
{
miriam-gene:190
a
ncit:C16612
.
lld:C0028754
a
ncit:C7057
.
dgn-gda:DGNb0f1e22db2ddcf689df5edb892e481ba
sio:SIO_000628
miriam-gene:190
,
lld:C0028754
;
a
sio:SIO_001121
.
}
dgn-np:NP231030.RA8DB7_sVhXtOn54P_6PLt7nVb3M1ZPusif4fKW72fnm4130_provenance
{
dgn-np:NP231030.RA8DB7_sVhXtOn54P_6PLt7nVb3M1ZPusif4fKW72fnm4130_assertion
dcterms:description
"[HH occurs in DAX1 mutations when associated with adrenal insufficiency (adrenal hypoplasia congenita), and is also linked with obesity in patients with mutations of leptin and its receptor, as well as mutations in prohormone convertase 1.]. 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:17191030
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP231030.RA8DB7_sVhXtOn54P_6PLt7nVb3M1ZPusif4fKW72fnm4130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:39:51+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}