@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP403109.RAB3l4nm_AX6G21pu4O2KJbyBx1oFoexgh4G79bgVhOgY
> .
@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:NP403109.RAB3l4nm_AX6G21pu4O2KJbyBx1oFoexgh4G79bgVhOgY130_head
{
this:
np:hasAssertion
dgn-np:NP403109.RAB3l4nm_AX6G21pu4O2KJbyBx1oFoexgh4G79bgVhOgY130_assertion
;
np:hasProvenance
dgn-np:NP403109.RAB3l4nm_AX6G21pu4O2KJbyBx1oFoexgh4G79bgVhOgY130_provenance
;
np:hasPublicationInfo
dgn-np:NP403109.RAB3l4nm_AX6G21pu4O2KJbyBx1oFoexgh4G79bgVhOgY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP403109.RAB3l4nm_AX6G21pu4O2KJbyBx1oFoexgh4G79bgVhOgY130_assertion
a
np:Assertion
.
dgn-np:NP403109.RAB3l4nm_AX6G21pu4O2KJbyBx1oFoexgh4G79bgVhOgY130_provenance
a
np:Provenance
.
dgn-np:NP403109.RAB3l4nm_AX6G21pu4O2KJbyBx1oFoexgh4G79bgVhOgY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP403109.RAB3l4nm_AX6G21pu4O2KJbyBx1oFoexgh4G79bgVhOgY130_assertion
{
miriam-gene:2815
a
ncit:C16612
.
lld:C0005129
a
ncit:C7057
.
dgn-gda:DGN8e3924bbd46b8b4566974a87fa8de021
sio:SIO_000628
miriam-gene:2815
,
lld:C0005129
;
a
sio:SIO_001121
.
}
dgn-np:NP403109.RAB3l4nm_AX6G21pu4O2KJbyBx1oFoexgh4G79bgVhOgY130_provenance
{
dgn-np:NP403109.RAB3l4nm_AX6G21pu4O2KJbyBx1oFoexgh4G79bgVhOgY130_assertion
dcterms:description
"[Bernard-Soulier syndrome (BSS) is an extremely rare hereditary bleeding disorder, caused by mutations occurring in the Glycoprotein (GP) Ibalpha, GPIbbeta and GP9 genes that encode for the corresponding subunits of platelet GPIb-V-IX adhesion receptor complex.]. 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:16268478
;
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:NP403109.RAB3l4nm_AX6G21pu4O2KJbyBx1oFoexgh4G79bgVhOgY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:00+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" .
}