@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP329014.RANoKvj3w_YAvh2QNuI0FqJMr-0riESXJ0boDvWNMOUAc
> .
@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:NP329014.RANoKvj3w_YAvh2QNuI0FqJMr-0riESXJ0boDvWNMOUAc130_head
{
this:
np:hasAssertion
dgn-np:NP329014.RANoKvj3w_YAvh2QNuI0FqJMr-0riESXJ0boDvWNMOUAc130_assertion
;
np:hasProvenance
dgn-np:NP329014.RANoKvj3w_YAvh2QNuI0FqJMr-0riESXJ0boDvWNMOUAc130_provenance
;
np:hasPublicationInfo
dgn-np:NP329014.RANoKvj3w_YAvh2QNuI0FqJMr-0riESXJ0boDvWNMOUAc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP329014.RANoKvj3w_YAvh2QNuI0FqJMr-0riESXJ0boDvWNMOUAc130_assertion
a
np:Assertion
.
dgn-np:NP329014.RANoKvj3w_YAvh2QNuI0FqJMr-0riESXJ0boDvWNMOUAc130_provenance
a
np:Provenance
.
dgn-np:NP329014.RANoKvj3w_YAvh2QNuI0FqJMr-0riESXJ0boDvWNMOUAc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP329014.RANoKvj3w_YAvh2QNuI0FqJMr-0riESXJ0boDvWNMOUAc130_assertion
{
miriam-gene:367
a
ncit:C16612
.
lld:C0268297
a
ncit:C7057
.
dgn-gda:DGN8cb7e65ed1a345a3c55f7144b841822d
sio:SIO_000628
miriam-gene:367
,
lld:C0268297
;
a
sio:SIO_001121
.
}
dgn-np:NP329014.RANoKvj3w_YAvh2QNuI0FqJMr-0riESXJ0boDvWNMOUAc130_provenance
{
dgn-np:NP329014.RANoKvj3w_YAvh2QNuI0FqJMr-0riESXJ0boDvWNMOUAc130_assertion
dcterms:description
"[Diagnoses included Drash syndrome with Wilms tumor in infancy (3 patients), partial androgen insensitivity resulting from androgen receptor mutations (2), true hermaphroditism (2), chromosomal aberration (1), deficiency of antimüllerian hormone (1), gonadal dysgenesis (1), partial 5 alpha-reductase deficiency caused by a novel point mutation (1), and XX-male syndrome (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:9329414
;
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:NP329014.RANoKvj3w_YAvh2QNuI0FqJMr-0riESXJ0boDvWNMOUAc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:14+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" .
}