@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A
> .
@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:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_head
{
this:
np:hasAssertion
dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_assertion
;
np:hasProvenance
dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_provenance
;
np:hasPublicationInfo
dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_assertion
a
np:Assertion
.
dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_provenance
a
np:Provenance
.
dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_assertion
{
miriam-gene:24
a
ncit:C16612
.
lld:C0339526
a
ncit:C7057
.
dgn-gda:DGN0cdcd7caa1361b5dead4582b05d6e39a
sio:SIO_000628
miriam-gene:24
,
lld:C0339526
;
a
sio:SIO_001121
.
}
dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_provenance
{
dgn-np:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_assertion
dcterms:description
"[However, a gene for autosomal recessive retinitis pigmentosa with distinctive features of choriocapillaris atrophy at an advanced stage (RP19) has been mapped to the genetic interval encompassing the STGD gene on chromosome 1p (D1S435-D1S236), raising the question of whether, despite striking differences in clinical course and presentation, RP19 and STGD might be allelic disorders at the ABCR locus.]. 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:10874631
;
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:NP281725.RAHuhyi1lOV2n-D4SoPNdFE8GDODDoJepGeHXMoDDPq_A130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:39+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" .
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pav:version
"v2.1.0" .
}