@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP47819.RAGU23BTk1rAho65wLYR6iwc4Uai9IcGmo_05ZIMEpGdw
> .
@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:NP47819.RAGU23BTk1rAho65wLYR6iwc4Uai9IcGmo_05ZIMEpGdw130_head
{
this:
np:hasAssertion
dgn-np:NP47819.RAGU23BTk1rAho65wLYR6iwc4Uai9IcGmo_05ZIMEpGdw130_assertion
;
np:hasProvenance
dgn-np:NP47819.RAGU23BTk1rAho65wLYR6iwc4Uai9IcGmo_05ZIMEpGdw130_provenance
;
np:hasPublicationInfo
dgn-np:NP47819.RAGU23BTk1rAho65wLYR6iwc4Uai9IcGmo_05ZIMEpGdw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP47819.RAGU23BTk1rAho65wLYR6iwc4Uai9IcGmo_05ZIMEpGdw130_assertion
a
np:Assertion
.
dgn-np:NP47819.RAGU23BTk1rAho65wLYR6iwc4Uai9IcGmo_05ZIMEpGdw130_provenance
a
np:Provenance
.
dgn-np:NP47819.RAGU23BTk1rAho65wLYR6iwc4Uai9IcGmo_05ZIMEpGdw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP47819.RAGU23BTk1rAho65wLYR6iwc4Uai9IcGmo_05ZIMEpGdw130_assertion
{
miriam-gene:641
a
ncit:C16612
.
lld:C1527249
a
ncit:C7057
.
dgn-gda:DGN54ae3b4f8d855d82083484a10d61603c
sio:SIO_000628
miriam-gene:641
,
lld:C1527249
;
a
sio:SIO_001122
.
}
dgn-np:NP47819.RAGU23BTk1rAho65wLYR6iwc4Uai9IcGmo_05ZIMEpGdw130_provenance
{
dgn-np:NP47819.RAGU23BTk1rAho65wLYR6iwc4Uai9IcGmo_05ZIMEpGdw130_assertion
dcterms:description
"[ In Jewish individuals previously diagnosed with a colorectal neoplasm, MSH2*1906G>C is uncommon but has been associated with carcinoma occurring at a young age. The BLM(Ash) mutation is uncommon and appears to be of little effect. The I1307K mutation is common among Jews who have had colorectal neoplasms, but overall it was found to have little effect clinically in the current study group. There may be a gene-environment interaction between the I1307K mutation and cigarette use.]. 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:15959913
;
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:NP47819.RAGU23BTk1rAho65wLYR6iwc4Uai9IcGmo_05ZIMEpGdw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:22+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" .
}