@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP780519.RAi0M76V2-bQLkg0j2-L76yXwccUIu_yHHg6UpWyXB50Q
> .
@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:NP780519.RAi0M76V2-bQLkg0j2-L76yXwccUIu_yHHg6UpWyXB50Q130_head
{
this:
np:hasAssertion
dgn-np:NP780519.RAi0M76V2-bQLkg0j2-L76yXwccUIu_yHHg6UpWyXB50Q130_assertion
;
np:hasProvenance
dgn-np:NP780519.RAi0M76V2-bQLkg0j2-L76yXwccUIu_yHHg6UpWyXB50Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP780519.RAi0M76V2-bQLkg0j2-L76yXwccUIu_yHHg6UpWyXB50Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP780519.RAi0M76V2-bQLkg0j2-L76yXwccUIu_yHHg6UpWyXB50Q130_assertion
a
np:Assertion
.
dgn-np:NP780519.RAi0M76V2-bQLkg0j2-L76yXwccUIu_yHHg6UpWyXB50Q130_provenance
a
np:Provenance
.
dgn-np:NP780519.RAi0M76V2-bQLkg0j2-L76yXwccUIu_yHHg6UpWyXB50Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP780519.RAi0M76V2-bQLkg0j2-L76yXwccUIu_yHHg6UpWyXB50Q130_assertion
{
miriam-gene:4436
a
ncit:C16612
.
lld:C0027651
a
ncit:C7057
.
dgn-gda:DGN1c6525dbe9470a4ea71b26e20f58650f
sio:SIO_000628
miriam-gene:4436
,
lld:C0027651
;
a
sio:SIO_001121
.
}
dgn-np:NP780519.RAi0M76V2-bQLkg0j2-L76yXwccUIu_yHHg6UpWyXB50Q130_provenance
{
dgn-np:NP780519.RAi0M76V2-bQLkg0j2-L76yXwccUIu_yHHg6UpWyXB50Q130_assertion
dcterms:description
"[This concept applies also to well defined genetic diseases such as Hereditary Nonpolyposis Colorectal Cancer (HNPCC or Lynch syndrome), which is featured by early onset tumours of the large bowel (and other target organs), striking aggregation of neoplasms in families, and vertical transmission consistent with an autosomal dominant pattern of inheritance.]. 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:10379484
;
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:NP780519.RAi0M76V2-bQLkg0j2-L76yXwccUIu_yHHg6UpWyXB50Q130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:53+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" .
}