@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo
> .
@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/v4.0.0/void/
> .
dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_head
{
this:
np:hasAssertion
dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_assertion
;
np:hasProvenance
dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_provenance
;
np:hasPublicationInfo
dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_assertion
a
np:Assertion
.
dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_provenance
a
np:Provenance
.
dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_assertion
{
miriam-gene:145226
a
ncit:C16612
.
lld:C0035304
a
ncit:C7057
.
dgn-gda:DGN0cfb8fbc39bf60fd020a3ab7698b4c72
sio:SIO_000628
miriam-gene:145226
,
lld:C0035304
;
a
sio:SIO_001121
.
}
dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_provenance
{
dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_assertion
dcterms:description
"[Several mutations have been described in the RDH12 gene that disturb the activity of the encoded protein, suggesting that RDH12 loss of function disrupts the synthetic pathway of the visual chromophore 11-cis-retinal, therefore resulting in early and progressive retinal degeneration (RD).]. 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:19011012
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:04+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}