@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP20415.RA75nsmZs27f3lcpA_SBKLkUxrrDez6vXQ18mUipT6zVw
> .
@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:NP20415.RA75nsmZs27f3lcpA_SBKLkUxrrDez6vXQ18mUipT6zVw130_head
{
this:
np:hasAssertion
dgn-np:NP20415.RA75nsmZs27f3lcpA_SBKLkUxrrDez6vXQ18mUipT6zVw130_assertion
;
np:hasProvenance
dgn-np:NP20415.RA75nsmZs27f3lcpA_SBKLkUxrrDez6vXQ18mUipT6zVw130_provenance
;
np:hasPublicationInfo
dgn-np:NP20415.RA75nsmZs27f3lcpA_SBKLkUxrrDez6vXQ18mUipT6zVw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP20415.RA75nsmZs27f3lcpA_SBKLkUxrrDez6vXQ18mUipT6zVw130_assertion
a
np:Assertion
.
dgn-np:NP20415.RA75nsmZs27f3lcpA_SBKLkUxrrDez6vXQ18mUipT6zVw130_provenance
a
np:Provenance
.
dgn-np:NP20415.RA75nsmZs27f3lcpA_SBKLkUxrrDez6vXQ18mUipT6zVw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP20415.RA75nsmZs27f3lcpA_SBKLkUxrrDez6vXQ18mUipT6zVw130_assertion
{
miriam-gene:3664
a
ncit:C16612
.
lld:C0206762
a
ncit:C7057
.
dgn-gda:DGNc7a8a443c300a52f5b90ddc825995b96
sio:SIO_000628
miriam-gene:3664
,
lld:C0206762
;
a
sio:SIO_001121
.
}
dgn-np:NP20415.RA75nsmZs27f3lcpA_SBKLkUxrrDez6vXQ18mUipT6zVw130_provenance
{
dgn-np:NP20415.RA75nsmZs27f3lcpA_SBKLkUxrrDez6vXQ18mUipT6zVw130_assertion
dcterms:description
"[Mice deficient for Irf6 have not been reported, but in humans, mutations in IRF6 cause two mendelian orofacial clefting syndromes, and genetic variation in IRF6 confers risk for isolated cleft lip and palate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:17041601
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP20415.RA75nsmZs27f3lcpA_SBKLkUxrrDez6vXQ18mUipT6zVw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:07+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" .
}