@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1381942.RAmYCqUrpSX8W85CpfOnZ0Jboq6cbJyzcDMOPFGbMoUUI
> .
@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/v4.0.0/void/
> .
dgn-np:NP1381942.RAmYCqUrpSX8W85CpfOnZ0Jboq6cbJyzcDMOPFGbMoUUI130_head
{
this:
np:hasAssertion
dgn-np:NP1381942.RAmYCqUrpSX8W85CpfOnZ0Jboq6cbJyzcDMOPFGbMoUUI130_assertion
;
np:hasProvenance
dgn-np:NP1381942.RAmYCqUrpSX8W85CpfOnZ0Jboq6cbJyzcDMOPFGbMoUUI130_provenance
;
np:hasPublicationInfo
dgn-np:NP1381942.RAmYCqUrpSX8W85CpfOnZ0Jboq6cbJyzcDMOPFGbMoUUI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1381942.RAmYCqUrpSX8W85CpfOnZ0Jboq6cbJyzcDMOPFGbMoUUI130_assertion
a
np:Assertion
.
dgn-np:NP1381942.RAmYCqUrpSX8W85CpfOnZ0Jboq6cbJyzcDMOPFGbMoUUI130_provenance
a
np:Provenance
.
dgn-np:NP1381942.RAmYCqUrpSX8W85CpfOnZ0Jboq6cbJyzcDMOPFGbMoUUI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1381942.RAmYCqUrpSX8W85CpfOnZ0Jboq6cbJyzcDMOPFGbMoUUI130_assertion
{
miriam-gene:367
a
ncit:C16612
.
lld:C0950121
a
ncit:C7057
.
dgn-gda:DGN326ec4a94c3d6e02a5d1ad3f99b05a3d
sio:SIO_000628
miriam-gene:367
,
lld:C0950121
;
a
sio:SIO_001121
.
}
dgn-np:NP1381942.RAmYCqUrpSX8W85CpfOnZ0Jboq6cbJyzcDMOPFGbMoUUI130_provenance
{
dgn-np:NP1381942.RAmYCqUrpSX8W85CpfOnZ0Jboq6cbJyzcDMOPFGbMoUUI130_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-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1381942.RAmYCqUrpSX8W85CpfOnZ0Jboq6cbJyzcDMOPFGbMoUUI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:12+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: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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}