@prefix bfo: <
http://purl.obolibrary.org/obo/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A
> .
@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 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:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_head
{
this:
np:hasAssertion
dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_assertion
;
np:hasProvenance
dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_provenance
;
np:hasPublicationInfo
dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_assertion
a
np:Assertion
.
dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_provenance
a
np:Provenance
.
dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_assertion
{
miriam-gene:5624
a
ncit:C16612
.
lld:C0206677
a
ncit:C7057
.
dgn-gda:DGNee0d15a272415d3a4087fdd47df6634c
sio:SIO_000628
miriam-gene:5624
,
lld:C0206677
;
a
sio:SIO_001121
.
}
dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_provenance
{
dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_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
bfo:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
xsd:date
.
dgn-void:source_evidence_literature
a
bfo:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP272108.RAr1buwuW_YjaA0Utcj5ar_-kyHHBYzLfxPSPG-o8rP8A130_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" .
}