@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP51149.RAjs3tyETR0glVL5s0d7nhjk65a-R_78FvXMmE3K5d21c
> .
@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:NP51149.RAjs3tyETR0glVL5s0d7nhjk65a-R_78FvXMmE3K5d21c130_head
{
this:
np:hasAssertion
dgn-np:NP51149.RAjs3tyETR0glVL5s0d7nhjk65a-R_78FvXMmE3K5d21c130_assertion
;
np:hasProvenance
dgn-np:NP51149.RAjs3tyETR0glVL5s0d7nhjk65a-R_78FvXMmE3K5d21c130_provenance
;
np:hasPublicationInfo
dgn-np:NP51149.RAjs3tyETR0glVL5s0d7nhjk65a-R_78FvXMmE3K5d21c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP51149.RAjs3tyETR0glVL5s0d7nhjk65a-R_78FvXMmE3K5d21c130_assertion
a
np:Assertion
.
dgn-np:NP51149.RAjs3tyETR0glVL5s0d7nhjk65a-R_78FvXMmE3K5d21c130_provenance
a
np:Provenance
.
dgn-np:NP51149.RAjs3tyETR0glVL5s0d7nhjk65a-R_78FvXMmE3K5d21c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP51149.RAjs3tyETR0glVL5s0d7nhjk65a-R_78FvXMmE3K5d21c130_assertion
{
miriam-gene:6662
a
ncit:C16612
.
lld:C0848558
a
ncit:C7057
.
dgn-gda:DGN624fbf9ec5e888ad36943f5d7d422cce
sio:SIO_000628
miriam-gene:6662
,
lld:C0848558
;
a
sio:SIO_001122
.
}
dgn-np:NP51149.RAjs3tyETR0glVL5s0d7nhjk65a-R_78FvXMmE3K5d21c130_provenance
{
dgn-np:NP51149.RAjs3tyETR0glVL5s0d7nhjk65a-R_78FvXMmE3K5d21c130_assertion
dcterms:description
"[In conclusion, mutations are frequently found in genes that control androgen action and metabolism, but are seldom found in genes active in the early phase of sex determination and differentiation. Mutations in AR, SRD5A2 or WT1 seem to be associated not only with hypospadias but also with micropenis.]. 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:15266301
;
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:NP51149.RAjs3tyETR0glVL5s0d7nhjk65a-R_78FvXMmE3K5d21c130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:23+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" .
}