@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP313738.RAxpSBL2KFi6KuUn2BuRGEgwliMbMQEATD7w7t4bZWPyU
> .
@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:NP313738.RAxpSBL2KFi6KuUn2BuRGEgwliMbMQEATD7w7t4bZWPyU130_head
{
this:
np:hasAssertion
dgn-np:NP313738.RAxpSBL2KFi6KuUn2BuRGEgwliMbMQEATD7w7t4bZWPyU130_assertion
;
np:hasProvenance
dgn-np:NP313738.RAxpSBL2KFi6KuUn2BuRGEgwliMbMQEATD7w7t4bZWPyU130_provenance
;
np:hasPublicationInfo
dgn-np:NP313738.RAxpSBL2KFi6KuUn2BuRGEgwliMbMQEATD7w7t4bZWPyU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP313738.RAxpSBL2KFi6KuUn2BuRGEgwliMbMQEATD7w7t4bZWPyU130_assertion
a
np:Assertion
.
dgn-np:NP313738.RAxpSBL2KFi6KuUn2BuRGEgwliMbMQEATD7w7t4bZWPyU130_provenance
a
np:Provenance
.
dgn-np:NP313738.RAxpSBL2KFi6KuUn2BuRGEgwliMbMQEATD7w7t4bZWPyU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP313738.RAxpSBL2KFi6KuUn2BuRGEgwliMbMQEATD7w7t4bZWPyU130_assertion
{
miriam-gene:29123
a
ncit:C16612
.
lld:C1510586
a
ncit:C7057
.
dgn-gda:DGNa7ebe5a60889286a6907714f16656929
sio:SIO_000628
miriam-gene:29123
,
lld:C1510586
;
a
sio:SIO_001121
.
}
dgn-np:NP313738.RAxpSBL2KFi6KuUn2BuRGEgwliMbMQEATD7w7t4bZWPyU130_provenance
{
dgn-np:NP313738.RAxpSBL2KFi6KuUn2BuRGEgwliMbMQEATD7w7t4bZWPyU130_assertion
dcterms:description
"[Contiguous gene deletions involving ANKRD11 in 16q24.3 are associated with autism spectrum disorder (ASD) and intellectual disability (ID), while 16q24.1 deletions affecting FOXF1 are associated with congenital renal malformations, alveolar capillary dysplasia, and various other abnormalities.]. 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:23335808
;
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:NP313738.RAxpSBL2KFi6KuUn2BuRGEgwliMbMQEATD7w7t4bZWPyU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:00+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" .
}