@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP601528.RAVITnnpk7K5yF8TCCJDmJ49CZIcZ9Nk9Xvx_ZPY7OC_s
> .
@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:NP601528.RAVITnnpk7K5yF8TCCJDmJ49CZIcZ9Nk9Xvx_ZPY7OC_s130_head
{
this:
np:hasAssertion
dgn-np:NP601528.RAVITnnpk7K5yF8TCCJDmJ49CZIcZ9Nk9Xvx_ZPY7OC_s130_assertion
;
np:hasProvenance
dgn-np:NP601528.RAVITnnpk7K5yF8TCCJDmJ49CZIcZ9Nk9Xvx_ZPY7OC_s130_provenance
;
np:hasPublicationInfo
dgn-np:NP601528.RAVITnnpk7K5yF8TCCJDmJ49CZIcZ9Nk9Xvx_ZPY7OC_s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP601528.RAVITnnpk7K5yF8TCCJDmJ49CZIcZ9Nk9Xvx_ZPY7OC_s130_assertion
a
np:Assertion
.
dgn-np:NP601528.RAVITnnpk7K5yF8TCCJDmJ49CZIcZ9Nk9Xvx_ZPY7OC_s130_provenance
a
np:Provenance
.
dgn-np:NP601528.RAVITnnpk7K5yF8TCCJDmJ49CZIcZ9Nk9Xvx_ZPY7OC_s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP601528.RAVITnnpk7K5yF8TCCJDmJ49CZIcZ9Nk9Xvx_ZPY7OC_s130_assertion
{
miriam-gene:10046
a
ncit:C16612
.
lld:C0036875
a
ncit:C7057
.
dgn-gda:DGN258d754a1bb1242e4bf9463e61d0cccd
sio:SIO_000628
miriam-gene:10046
,
lld:C0036875
;
a
sio:SIO_001121
.
}
dgn-np:NP601528.RAVITnnpk7K5yF8TCCJDmJ49CZIcZ9Nk9Xvx_ZPY7OC_s130_provenance
{
dgn-np:NP601528.RAVITnnpk7K5yF8TCCJDmJ49CZIcZ9Nk9Xvx_ZPY7OC_s130_assertion
dcterms:description
"[Mutations in chromosome X open reading frame 6 (CXorf6), a recently described candidate gene involved in the development of male genitalia, have been found in patients with complex 46,XY disorders of sexual development (46,XY DSD) including micropenis, bifid scrotum, and penoscrotal hypospadias.]. 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:18635673
;
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:NP601528.RAVITnnpk7K5yF8TCCJDmJ49CZIcZ9Nk9Xvx_ZPY7OC_s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:01+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" .
}