@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ
> .
@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:NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_head
{
this:
np:hasAssertion
dgn-np:NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_assertion
;
np:hasProvenance
dgn-np:NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_assertion
a
np:Assertion
.
dgn-np:NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_provenance
a
np:Provenance
.
dgn-np:NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_assertion
{
miriam-gene:4412
a
ncit:C16612
.
lld:C0013336
a
ncit:C7057
.
dgn-gda:DGN2f86311ebb8859e2a20764061a11026a
sio:SIO_000628
miriam-gene:4412
,
lld:C0013336
;
a
sio:SIO_001121
.
}
dgn-np:NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_provenance
{
dgn-np:NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_assertion
dcterms:description
"[Xp22.3 deletion in males can be associated with short stature (SHOX), chondrodysplasia punctata (ARSE), mental retardation (MRX49 locus), ichthyosis (STS), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion.]. 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:18194880
;
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:NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:16+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" .
}