@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP16171.RA6dK7Ux3j8U4cDNMJZNYenQhKrKGo08nLh3QT56C6GS8
> .
@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:NP16171.RA6dK7Ux3j8U4cDNMJZNYenQhKrKGo08nLh3QT56C6GS8130_head
{
this:
np:hasAssertion
dgn-np:NP16171.RA6dK7Ux3j8U4cDNMJZNYenQhKrKGo08nLh3QT56C6GS8130_assertion
;
np:hasProvenance
dgn-np:NP16171.RA6dK7Ux3j8U4cDNMJZNYenQhKrKGo08nLh3QT56C6GS8130_provenance
;
np:hasPublicationInfo
dgn-np:NP16171.RA6dK7Ux3j8U4cDNMJZNYenQhKrKGo08nLh3QT56C6GS8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP16171.RA6dK7Ux3j8U4cDNMJZNYenQhKrKGo08nLh3QT56C6GS8130_assertion
a
np:Assertion
.
dgn-np:NP16171.RA6dK7Ux3j8U4cDNMJZNYenQhKrKGo08nLh3QT56C6GS8130_provenance
a
np:Provenance
.
dgn-np:NP16171.RA6dK7Ux3j8U4cDNMJZNYenQhKrKGo08nLh3QT56C6GS8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP16171.RA6dK7Ux3j8U4cDNMJZNYenQhKrKGo08nLh3QT56C6GS8130_assertion
{
miriam-gene:158326
a
ncit:C16612
.
lld:C0221363
a
ncit:C7057
.
dgn-gda:DGN8f645c7b13003d1368828727e5c7815b
sio:SIO_000628
miriam-gene:158326
,
lld:C0221363
;
a
sio:SIO_001121
.
}
dgn-np:NP16171.RA6dK7Ux3j8U4cDNMJZNYenQhKrKGo08nLh3QT56C6GS8130_provenance
{
dgn-np:NP16171.RA6dK7Ux3j8U4cDNMJZNYenQhKrKGo08nLh3QT56C6GS8130_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_curated
;
sio:SIO_000772
miriam-pubmed:23221805
;
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:NP16171.RA6dK7Ux3j8U4cDNMJZNYenQhKrKGo08nLh3QT56C6GS8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:05+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" .
}