@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP396189.RAe2W2Gm9tQiIdfcq9XHtrC5P5r8RuZc_2NuZtclUBMBw
> .
@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/
> .
@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/v3.0.0/void/
> .
dgn-np:NP396189.RAe2W2Gm9tQiIdfcq9XHtrC5P5r8RuZc_2NuZtclUBMBw130_head
{
this:
np:hasAssertion
dgn-np:NP396189.RAe2W2Gm9tQiIdfcq9XHtrC5P5r8RuZc_2NuZtclUBMBw130_assertion
;
np:hasProvenance
dgn-np:NP396189.RAe2W2Gm9tQiIdfcq9XHtrC5P5r8RuZc_2NuZtclUBMBw130_provenance
;
np:hasPublicationInfo
dgn-np:NP396189.RAe2W2Gm9tQiIdfcq9XHtrC5P5r8RuZc_2NuZtclUBMBw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP396189.RAe2W2Gm9tQiIdfcq9XHtrC5P5r8RuZc_2NuZtclUBMBw130_assertion
a
np:Assertion
.
dgn-np:NP396189.RAe2W2Gm9tQiIdfcq9XHtrC5P5r8RuZc_2NuZtclUBMBw130_provenance
a
np:Provenance
.
dgn-np:NP396189.RAe2W2Gm9tQiIdfcq9XHtrC5P5r8RuZc_2NuZtclUBMBw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP396189.RAe2W2Gm9tQiIdfcq9XHtrC5P5r8RuZc_2NuZtclUBMBw130_assertion
{
miriam-gene:2202
a
ncit:C16612
.
lld:C0242383
a
ncit:C7057
.
dgn-gda:DGN2b6113e130a47e1f528b5b4f01e94006
sio:SIO_000628
miriam-gene:2202
,
lld:C0242383
;
a
sio:SIO_001122
.
}
dgn-np:NP396189.RAe2W2Gm9tQiIdfcq9XHtrC5P5r8RuZc_2NuZtclUBMBw130_provenance
{
dgn-np:NP396189.RAe2W2Gm9tQiIdfcq9XHtrC5P5r8RuZc_2NuZtclUBMBw130_assertion
dcterms:description
"[The Arg345Trp mutation on exon 10 of the EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) gene causes two clinical phenotypes of early onset drusen (Doyne honeycomb retinal dystrophy and Malattia Leventinese), yet does not appear to be involved in other early onset drusen phenotypes or typical AMD.]. 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:15218514
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP396189.RAe2W2Gm9tQiIdfcq9XHtrC5P5r8RuZc_2NuZtclUBMBw130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:30+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}