@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP231124.RABFn95fmky8bQ1bWl_jyTtkGfcsL3t-OJreR0zomi5-k
> .
@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:NP231124.RABFn95fmky8bQ1bWl_jyTtkGfcsL3t-OJreR0zomi5-k130_head
{
this:
np:hasAssertion
dgn-np:NP231124.RABFn95fmky8bQ1bWl_jyTtkGfcsL3t-OJreR0zomi5-k130_assertion
;
np:hasProvenance
dgn-np:NP231124.RABFn95fmky8bQ1bWl_jyTtkGfcsL3t-OJreR0zomi5-k130_provenance
;
np:hasPublicationInfo
dgn-np:NP231124.RABFn95fmky8bQ1bWl_jyTtkGfcsL3t-OJreR0zomi5-k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP231124.RABFn95fmky8bQ1bWl_jyTtkGfcsL3t-OJreR0zomi5-k130_assertion
a
np:Assertion
.
dgn-np:NP231124.RABFn95fmky8bQ1bWl_jyTtkGfcsL3t-OJreR0zomi5-k130_provenance
a
np:Provenance
.
dgn-np:NP231124.RABFn95fmky8bQ1bWl_jyTtkGfcsL3t-OJreR0zomi5-k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP231124.RABFn95fmky8bQ1bWl_jyTtkGfcsL3t-OJreR0zomi5-k130_assertion
{
miriam-gene:2300
a
ncit:C16612
.
lld:C0152101
a
ncit:C7057
.
dgn-gda:DGNa9d214d490d8e3a301c3d38f9739006b
sio:SIO_000628
miriam-gene:2300
,
lld:C0152101
;
a
sio:SIO_001121
.
}
dgn-np:NP231124.RABFn95fmky8bQ1bWl_jyTtkGfcsL3t-OJreR0zomi5-k130_provenance
{
dgn-np:NP231124.RABFn95fmky8bQ1bWl_jyTtkGfcsL3t-OJreR0zomi5-k130_assertion
dcterms:description
"[In contrast to the association of point mutations in FOXF1 with bowel malrotation, microdeletions of FOXF1 were associated with hypoplastic left heart syndrome and gastrointestinal atresias, probably due to haploinsufficiency for the neighboring FOXC2 and FOXL1 genes.]. 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:19500772
;
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:NP231124.RABFn95fmky8bQ1bWl_jyTtkGfcsL3t-OJreR0zomi5-k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:09+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" .
}