@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP307819.RAjnEsqlfOG9PGpB3FoYpMgwrApsddDdywB25OfT_fi4o
> .
@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:NP307819.RAjnEsqlfOG9PGpB3FoYpMgwrApsddDdywB25OfT_fi4o130_head
{
this:
np:hasAssertion
dgn-np:NP307819.RAjnEsqlfOG9PGpB3FoYpMgwrApsddDdywB25OfT_fi4o130_assertion
;
np:hasProvenance
dgn-np:NP307819.RAjnEsqlfOG9PGpB3FoYpMgwrApsddDdywB25OfT_fi4o130_provenance
;
np:hasPublicationInfo
dgn-np:NP307819.RAjnEsqlfOG9PGpB3FoYpMgwrApsddDdywB25OfT_fi4o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP307819.RAjnEsqlfOG9PGpB3FoYpMgwrApsddDdywB25OfT_fi4o130_assertion
a
np:Assertion
.
dgn-np:NP307819.RAjnEsqlfOG9PGpB3FoYpMgwrApsddDdywB25OfT_fi4o130_provenance
a
np:Provenance
.
dgn-np:NP307819.RAjnEsqlfOG9PGpB3FoYpMgwrApsddDdywB25OfT_fi4o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP307819.RAjnEsqlfOG9PGpB3FoYpMgwrApsddDdywB25OfT_fi4o130_assertion
{
miriam-gene:3244
a
ncit:C16612
.
lld:C0079541
a
ncit:C7057
.
dgn-gda:DGN77c5c7fc64926fe1590cedb1919c1556
sio:SIO_000628
miriam-gene:3244
,
lld:C0079541
;
a
sio:SIO_001121
.
}
dgn-np:NP307819.RAjnEsqlfOG9PGpB3FoYpMgwrApsddDdywB25OfT_fi4o130_provenance
{
dgn-np:NP307819.RAjnEsqlfOG9PGpB3FoYpMgwrApsddDdywB25OfT_fi4o130_assertion
dcterms:description
"[Despite extensive pedigree analysis of numerous polymorphisms, as well as complementation studies in yeast on one of the missense mutations, we find no evidence that the LS gene is in fact HPE1, implicating another gene located in this chromosomal region in HPE pathogenesis.]. 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:10598817
;
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:NP307819.RAjnEsqlfOG9PGpB3FoYpMgwrApsddDdywB25OfT_fi4o130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:56+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" .
}