@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP304535.RAU6Wa9EkXqiq_NUhx9F7N2v5SffdXqt9pQDoGlrQ4Ys0
> .
@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/v3.0.0/void/
> .
dgn-np:NP304535.RAU6Wa9EkXqiq_NUhx9F7N2v5SffdXqt9pQDoGlrQ4Ys0130_head
{
this:
np:hasAssertion
dgn-np:NP304535.RAU6Wa9EkXqiq_NUhx9F7N2v5SffdXqt9pQDoGlrQ4Ys0130_assertion
;
np:hasProvenance
dgn-np:NP304535.RAU6Wa9EkXqiq_NUhx9F7N2v5SffdXqt9pQDoGlrQ4Ys0130_provenance
;
np:hasPublicationInfo
dgn-np:NP304535.RAU6Wa9EkXqiq_NUhx9F7N2v5SffdXqt9pQDoGlrQ4Ys0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP304535.RAU6Wa9EkXqiq_NUhx9F7N2v5SffdXqt9pQDoGlrQ4Ys0130_assertion
a
np:Assertion
.
dgn-np:NP304535.RAU6Wa9EkXqiq_NUhx9F7N2v5SffdXqt9pQDoGlrQ4Ys0130_provenance
a
np:Provenance
.
dgn-np:NP304535.RAU6Wa9EkXqiq_NUhx9F7N2v5SffdXqt9pQDoGlrQ4Ys0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP304535.RAU6Wa9EkXqiq_NUhx9F7N2v5SffdXqt9pQDoGlrQ4Ys0130_assertion
{
miriam-gene:1029
a
ncit:C16612
.
lld:C0013403
a
ncit:C7057
.
dgn-gda:DGNebf63661df5844d1261d87ac791079f5
sio:SIO_000628
miriam-gene:1029
,
lld:C0013403
;
a
sio:SIO_001121
.
}
dgn-np:NP304535.RAU6Wa9EkXqiq_NUhx9F7N2v5SffdXqt9pQDoGlrQ4Ys0130_provenance
{
dgn-np:NP304535.RAU6Wa9EkXqiq_NUhx9F7N2v5SffdXqt9pQDoGlrQ4Ys0130_assertion
dcterms:description
"[We have correlated the atypical mole syndrome phenotype and gene carrier status in five families with germline CDKN2A mutations and shown that family members with the atypical mole syndrome were three times more likely to be mutant gene carriers than their relatives who did not have the atypical mole syndrome (odds ratio 3.4; confidence interval 1.0-11.]. 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:10620111
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP304535.RAU6Wa9EkXqiq_NUhx9F7N2v5SffdXqt9pQDoGlrQ4Ys0130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:35+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}