@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP226330.RATPAfYtp80rL_c63hYUWloJAKNAZafHmkmRsLjEqSWbI
> .
@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:NP226330.RATPAfYtp80rL_c63hYUWloJAKNAZafHmkmRsLjEqSWbI130_head
{
this:
np:hasAssertion
dgn-np:NP226330.RATPAfYtp80rL_c63hYUWloJAKNAZafHmkmRsLjEqSWbI130_assertion
;
np:hasProvenance
dgn-np:NP226330.RATPAfYtp80rL_c63hYUWloJAKNAZafHmkmRsLjEqSWbI130_provenance
;
np:hasPublicationInfo
dgn-np:NP226330.RATPAfYtp80rL_c63hYUWloJAKNAZafHmkmRsLjEqSWbI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP226330.RATPAfYtp80rL_c63hYUWloJAKNAZafHmkmRsLjEqSWbI130_assertion
a
np:Assertion
.
dgn-np:NP226330.RATPAfYtp80rL_c63hYUWloJAKNAZafHmkmRsLjEqSWbI130_provenance
a
np:Provenance
.
dgn-np:NP226330.RATPAfYtp80rL_c63hYUWloJAKNAZafHmkmRsLjEqSWbI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP226330.RATPAfYtp80rL_c63hYUWloJAKNAZafHmkmRsLjEqSWbI130_assertion
{
miriam-gene:130749
a
ncit:C16612
.
lld:C0008924
a
ncit:C7057
.
dgn-gda:DGN363f619e96a3bfd69cedb78a939fe8fb
sio:SIO_000628
miriam-gene:130749
,
lld:C0008924
;
a
sio:SIO_001121
.
}
dgn-np:NP226330.RATPAfYtp80rL_c63hYUWloJAKNAZafHmkmRsLjEqSWbI130_provenance
{
dgn-np:NP226330.RATPAfYtp80rL_c63hYUWloJAKNAZafHmkmRsLjEqSWbI130_assertion
dcterms:description
"[cleft lip with or without cleft palate, cleft lip only, cleft lip with cleft palate and cleft palate only), interestingly, we found that rs16260 overall genotype frequencies in cleft palate only (CPO) groups were significantly different with those in the controls (P=0.004) and rs16260 AA genotype significantly increased the risk of CPO by 5.90-fold (OR=6.90, 95% CI=1.47-32.40), providing the first evidence of CDH1 genetic variation in the etiology of CPO.]. 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:20880515
;
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:NP226330.RATPAfYtp80rL_c63hYUWloJAKNAZafHmkmRsLjEqSWbI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:05+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" .
}