@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c
> .
@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:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_head
{
this:
np:hasAssertion
dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_assertion
;
np:hasProvenance
dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_provenance
;
np:hasPublicationInfo
dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_assertion
a
np:Assertion
.
dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_provenance
a
np:Provenance
.
dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_assertion
{
miriam-gene:4619
a
ncit:C16612
.
lld:C0009376
a
ncit:C7057
.
dgn-gda:DGNb16097d52f29272a504ee3ddaeccd858
sio:SIO_000628
miriam-gene:4619
,
lld:C0009376
;
a
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.
}
dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_provenance
{
dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_assertion
dcterms:description
"[ A large frequency of biallelic MYH mutations (69%) was found in APC mutation negative patients belonging to families with attenuated polyposis; the highest percentage was observed in families presenting evidence for horizontal transmission of the disease. The high percentage of degeneration found in these patients suggests that colonoscopy with polypectomies is not sufficient and prophylactic colectomy is recommended. The identification of MYH associated polyposis is important to evaluate the level of risk, particularly for the siblings.]. 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:15932553
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:25+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
;
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<
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> , <
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> , <
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
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pav:version
"v2.1.0" .
}