@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP481853.RAthldypyhEKr2DM7yngWp8Rn8LkcehcaCUoxb1ceHDVo
> .
@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:NP481853.RAthldypyhEKr2DM7yngWp8Rn8LkcehcaCUoxb1ceHDVo130_head
{
this:
np:hasAssertion
dgn-np:NP481853.RAthldypyhEKr2DM7yngWp8Rn8LkcehcaCUoxb1ceHDVo130_assertion
;
np:hasProvenance
dgn-np:NP481853.RAthldypyhEKr2DM7yngWp8Rn8LkcehcaCUoxb1ceHDVo130_provenance
;
np:hasPublicationInfo
dgn-np:NP481853.RAthldypyhEKr2DM7yngWp8Rn8LkcehcaCUoxb1ceHDVo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP481853.RAthldypyhEKr2DM7yngWp8Rn8LkcehcaCUoxb1ceHDVo130_assertion
a
np:Assertion
.
dgn-np:NP481853.RAthldypyhEKr2DM7yngWp8Rn8LkcehcaCUoxb1ceHDVo130_provenance
a
np:Provenance
.
dgn-np:NP481853.RAthldypyhEKr2DM7yngWp8Rn8LkcehcaCUoxb1ceHDVo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP481853.RAthldypyhEKr2DM7yngWp8Rn8LkcehcaCUoxb1ceHDVo130_assertion
{
miriam-gene:2202
a
ncit:C16612
.
lld:C0242383
a
ncit:C7057
.
dgn-gda:DGN53e1887deb044065a5e26f4e96189b16
sio:SIO_000628
miriam-gene:2202
,
lld:C0242383
;
a
sio:SIO_001121
.
}
dgn-np:NP481853.RAthldypyhEKr2DM7yngWp8Rn8LkcehcaCUoxb1ceHDVo130_provenance
{
dgn-np:NP481853.RAthldypyhEKr2DM7yngWp8Rn8LkcehcaCUoxb1ceHDVo130_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-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:NP481853.RAthldypyhEKr2DM7yngWp8Rn8LkcehcaCUoxb1ceHDVo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:48+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" .
}