@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP178371.RAiKj6HcAzqJ8ti-TtEhkSyHJmWwgmrL5isJ4gQ04wz5U
> .
@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:NP178371.RAiKj6HcAzqJ8ti-TtEhkSyHJmWwgmrL5isJ4gQ04wz5U130_head
{
this:
np:hasAssertion
dgn-np:NP178371.RAiKj6HcAzqJ8ti-TtEhkSyHJmWwgmrL5isJ4gQ04wz5U130_assertion
;
np:hasProvenance
dgn-np:NP178371.RAiKj6HcAzqJ8ti-TtEhkSyHJmWwgmrL5isJ4gQ04wz5U130_provenance
;
np:hasPublicationInfo
dgn-np:NP178371.RAiKj6HcAzqJ8ti-TtEhkSyHJmWwgmrL5isJ4gQ04wz5U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP178371.RAiKj6HcAzqJ8ti-TtEhkSyHJmWwgmrL5isJ4gQ04wz5U130_assertion
a
np:Assertion
.
dgn-np:NP178371.RAiKj6HcAzqJ8ti-TtEhkSyHJmWwgmrL5isJ4gQ04wz5U130_provenance
a
np:Provenance
.
dgn-np:NP178371.RAiKj6HcAzqJ8ti-TtEhkSyHJmWwgmrL5isJ4gQ04wz5U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP178371.RAiKj6HcAzqJ8ti-TtEhkSyHJmWwgmrL5isJ4gQ04wz5U130_assertion
{
miriam-gene:158326
a
ncit:C16612
.
lld:C2750433
a
ncit:C7057
.
dgn-gda:DGN0d02dac6890b90e4b5e33adaa5c7be2d
sio:SIO_000628
miriam-gene:158326
,
lld:C2750433
;
a
sio:SIO_001121
.
}
dgn-np:NP178371.RAiKj6HcAzqJ8ti-TtEhkSyHJmWwgmrL5isJ4gQ04wz5U130_provenance
{
dgn-np:NP178371.RAiKj6HcAzqJ8ti-TtEhkSyHJmWwgmrL5isJ4gQ04wz5U130_assertion
dcterms:description
"[Recessive mutations in the FRAS1-related extracellular matrix 1 (FREM1) gene have been shown to cause bifid nose with or without anorectal and renal anomalies (BNAR) syndrome and Manitoba oculotrichoanal (MOTA) syndrome, but have not been previously implicated in the development of CDH.]. 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:23221805
;
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:NP178371.RAiKj6HcAzqJ8ti-TtEhkSyHJmWwgmrL5isJ4gQ04wz5U130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:36+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" .
}