@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP238630.RA12wD4SW5T3j4p67xO6UfI626wYMv_BhgS09s-3hxJCc
> .
@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:NP238630.RA12wD4SW5T3j4p67xO6UfI626wYMv_BhgS09s-3hxJCc130_head
{
this:
np:hasAssertion
dgn-np:NP238630.RA12wD4SW5T3j4p67xO6UfI626wYMv_BhgS09s-3hxJCc130_assertion
;
np:hasProvenance
dgn-np:NP238630.RA12wD4SW5T3j4p67xO6UfI626wYMv_BhgS09s-3hxJCc130_provenance
;
np:hasPublicationInfo
dgn-np:NP238630.RA12wD4SW5T3j4p67xO6UfI626wYMv_BhgS09s-3hxJCc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP238630.RA12wD4SW5T3j4p67xO6UfI626wYMv_BhgS09s-3hxJCc130_assertion
a
np:Assertion
.
dgn-np:NP238630.RA12wD4SW5T3j4p67xO6UfI626wYMv_BhgS09s-3hxJCc130_provenance
a
np:Provenance
.
dgn-np:NP238630.RA12wD4SW5T3j4p67xO6UfI626wYMv_BhgS09s-3hxJCc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP238630.RA12wD4SW5T3j4p67xO6UfI626wYMv_BhgS09s-3hxJCc130_assertion
{
miriam-gene:7048
a
ncit:C16612
.
lld:C0266122
a
ncit:C7057
.
dgn-gda:DGN63d29d5c94f3f11773e58d06676f2c50
sio:SIO_000628
miriam-gene:7048
,
lld:C0266122
;
a
sio:SIO_001121
.
}
dgn-np:NP238630.RA12wD4SW5T3j4p67xO6UfI626wYMv_BhgS09s-3hxJCc130_provenance
{
dgn-np:NP238630.RA12wD4SW5T3j4p67xO6UfI626wYMv_BhgS09s-3hxJCc130_assertion
dcterms:description
"[The disease is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate and is caused by heterozygous mutations in the genes encoding transforming growth factor beta receptors 1 and 2 (TGFBR1 and TGFBR2, respectively).]. 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:16928994
;
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:NP238630.RA12wD4SW5T3j4p67xO6UfI626wYMv_BhgS09s-3hxJCc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:13+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" .
}