@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP272110.RA2AeLE2WVeqDxKuYy37RvVFsL7tc-Ceo2df4hXiqr0cg
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP272110.RA2AeLE2WVeqDxKuYy37RvVFsL7tc-Ceo2df4hXiqr0cg130_head
{
this:
np:hasAssertion
dgn-np:NP272110.RA2AeLE2WVeqDxKuYy37RvVFsL7tc-Ceo2df4hXiqr0cg130_assertion
;
np:hasProvenance
dgn-np:NP272110.RA2AeLE2WVeqDxKuYy37RvVFsL7tc-Ceo2df4hXiqr0cg130_provenance
;
np:hasPublicationInfo
dgn-np:NP272110.RA2AeLE2WVeqDxKuYy37RvVFsL7tc-Ceo2df4hXiqr0cg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP272110.RA2AeLE2WVeqDxKuYy37RvVFsL7tc-Ceo2df4hXiqr0cg130_assertion
a
np:Assertion
.
dgn-np:NP272110.RA2AeLE2WVeqDxKuYy37RvVFsL7tc-Ceo2df4hXiqr0cg130_provenance
a
np:Provenance
.
dgn-np:NP272110.RA2AeLE2WVeqDxKuYy37RvVFsL7tc-Ceo2df4hXiqr0cg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP272110.RA2AeLE2WVeqDxKuYy37RvVFsL7tc-Ceo2df4hXiqr0cg130_assertion
{
miriam-gene:324
a
ncit:C16612
.
lld:C0032580
a
ncit:C7057
.
dgn-gda:DGN0b65158b796b57a572532bd0144045e2
sio:SIO_000628
miriam-gene:324
,
lld:C0032580
;
a
sio:SIO_001121
.
}
dgn-np:NP272110.RA2AeLE2WVeqDxKuYy37RvVFsL7tc-Ceo2df4hXiqr0cg130_provenance
{
dgn-np:NP272110.RA2AeLE2WVeqDxKuYy37RvVFsL7tc-Ceo2df4hXiqr0cg130_assertion
dcterms:description
"[Germline mutations (nonsense, frameshift) of APC are associated with familial adenomatous polyposis, an autosomal dominant syndrome, clinically characterized by young onset, hundreds of adenomatous polyps in the colon, and increased risk for extracolonic tumors.]. 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:10630180
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP272110.RA2AeLE2WVeqDxKuYy37RvVFsL7tc-Ceo2df4hXiqr0cg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:49+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}