@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP228185.RArS-LyLsIzdDNRaIicqHRtusBCEvZi75sKCqnG5astYI
> .
@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:NP228185.RArS-LyLsIzdDNRaIicqHRtusBCEvZi75sKCqnG5astYI130_head
{
this:
np:hasAssertion
dgn-np:NP228185.RArS-LyLsIzdDNRaIicqHRtusBCEvZi75sKCqnG5astYI130_assertion
;
np:hasProvenance
dgn-np:NP228185.RArS-LyLsIzdDNRaIicqHRtusBCEvZi75sKCqnG5astYI130_provenance
;
np:hasPublicationInfo
dgn-np:NP228185.RArS-LyLsIzdDNRaIicqHRtusBCEvZi75sKCqnG5astYI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP228185.RArS-LyLsIzdDNRaIicqHRtusBCEvZi75sKCqnG5astYI130_assertion
a
np:Assertion
.
dgn-np:NP228185.RArS-LyLsIzdDNRaIicqHRtusBCEvZi75sKCqnG5astYI130_provenance
a
np:Provenance
.
dgn-np:NP228185.RArS-LyLsIzdDNRaIicqHRtusBCEvZi75sKCqnG5astYI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP228185.RArS-LyLsIzdDNRaIicqHRtusBCEvZi75sKCqnG5astYI130_assertion
{
miriam-gene:324
a
ncit:C16612
.
lld:C0334108
a
ncit:C7057
.
dgn-gda:DGNd1b7c3baf36c3ed9431317c07c592171
sio:SIO_000628
miriam-gene:324
,
lld:C0334108
;
a
sio:SIO_001121
.
}
dgn-np:NP228185.RArS-LyLsIzdDNRaIicqHRtusBCEvZi75sKCqnG5astYI130_provenance
{
dgn-np:NP228185.RArS-LyLsIzdDNRaIicqHRtusBCEvZi75sKCqnG5astYI130_assertion
dcterms:description
"[FAP is caused by mutations in the APC gene and various genotype-phenotype relationships have been defined including reports that colorectal polyposis is less severe with mutations 5' to codon 157 and that the risk of desmoid tumours is high in FAP patients with APC gene mutations between codons 1444 and 1598.]. 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:8968744
;
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:NP228185.RArS-LyLsIzdDNRaIicqHRtusBCEvZi75sKCqnG5astYI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:08+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" .
}