@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP894763.RAE3ylZYGWc30kDAqC5Seuq_KFykvulifftOqMkgrwf9A
> .
@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:NP894763.RAE3ylZYGWc30kDAqC5Seuq_KFykvulifftOqMkgrwf9A130_head
{
this:
np:hasAssertion
dgn-np:NP894763.RAE3ylZYGWc30kDAqC5Seuq_KFykvulifftOqMkgrwf9A130_assertion
;
np:hasProvenance
dgn-np:NP894763.RAE3ylZYGWc30kDAqC5Seuq_KFykvulifftOqMkgrwf9A130_provenance
;
np:hasPublicationInfo
dgn-np:NP894763.RAE3ylZYGWc30kDAqC5Seuq_KFykvulifftOqMkgrwf9A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP894763.RAE3ylZYGWc30kDAqC5Seuq_KFykvulifftOqMkgrwf9A130_assertion
a
np:Assertion
.
dgn-np:NP894763.RAE3ylZYGWc30kDAqC5Seuq_KFykvulifftOqMkgrwf9A130_provenance
a
np:Provenance
.
dgn-np:NP894763.RAE3ylZYGWc30kDAqC5Seuq_KFykvulifftOqMkgrwf9A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP894763.RAE3ylZYGWc30kDAqC5Seuq_KFykvulifftOqMkgrwf9A130_assertion
{
miriam-gene:29914
a
ncit:C16612
.
lld:C0271287
a
ncit:C7057
.
dgn-gda:DGNc8fc051e7d261b47f15f628b3b354c66
sio:SIO_000628
miriam-gene:29914
,
lld:C0271287
;
a
sio:SIO_001121
.
}
dgn-np:NP894763.RAE3ylZYGWc30kDAqC5Seuq_KFykvulifftOqMkgrwf9A130_provenance
{
dgn-np:NP894763.RAE3ylZYGWc30kDAqC5Seuq_KFykvulifftOqMkgrwf9A130_assertion
dcterms:description
"[Schnyder corneal dystrophy (SCD) is an autosomal dominant disease characterized by germline variants in UBIAD1 introducing missense alterations leading to deposition of cholesterol in the cornea, progressive opacification, and loss of visual acuity.]. 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:23169578
;
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:NP894763.RAE3ylZYGWc30kDAqC5Seuq_KFykvulifftOqMkgrwf9A130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:46+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" .
}