@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP741241.RAzyeyu8lcOjhb6tLZy7vw2tCY2-rxxpL_fMlPS8uL4-A
> .
@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:NP741241.RAzyeyu8lcOjhb6tLZy7vw2tCY2-rxxpL_fMlPS8uL4-A130_head
{
this:
np:hasAssertion
dgn-np:NP741241.RAzyeyu8lcOjhb6tLZy7vw2tCY2-rxxpL_fMlPS8uL4-A130_assertion
;
np:hasProvenance
dgn-np:NP741241.RAzyeyu8lcOjhb6tLZy7vw2tCY2-rxxpL_fMlPS8uL4-A130_provenance
;
np:hasPublicationInfo
dgn-np:NP741241.RAzyeyu8lcOjhb6tLZy7vw2tCY2-rxxpL_fMlPS8uL4-A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP741241.RAzyeyu8lcOjhb6tLZy7vw2tCY2-rxxpL_fMlPS8uL4-A130_assertion
a
np:Assertion
.
dgn-np:NP741241.RAzyeyu8lcOjhb6tLZy7vw2tCY2-rxxpL_fMlPS8uL4-A130_provenance
a
np:Provenance
.
dgn-np:NP741241.RAzyeyu8lcOjhb6tLZy7vw2tCY2-rxxpL_fMlPS8uL4-A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP741241.RAzyeyu8lcOjhb6tLZy7vw2tCY2-rxxpL_fMlPS8uL4-A130_assertion
{
miriam-gene:23414
a
ncit:C16612
.
lld:C0011981
a
ncit:C7057
.
dgn-gda:DGNafd4017681f6e4e477786f75ce6880ee
sio:SIO_000628
miriam-gene:23414
,
lld:C0011981
;
a
sio:SIO_001121
.
}
dgn-np:NP741241.RAzyeyu8lcOjhb6tLZy7vw2tCY2-rxxpL_fMlPS8uL4-A130_provenance
{
dgn-np:NP741241.RAzyeyu8lcOjhb6tLZy7vw2tCY2-rxxpL_fMlPS8uL4-A130_assertion
dcterms:description
"[Although there is strong evidence implicating genetic factors in its pathogenesis, few causative genes have been identified, and in isolated CDH, only one de novo, nonsense mutation has been reported in FOG2 in a female with posterior diaphragmatic eventration.]. 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:17568391
;
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:NP741241.RAzyeyu8lcOjhb6tLZy7vw2tCY2-rxxpL_fMlPS8uL4-A130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:29+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" .
}