@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP320540.RAtT-b5LVqT8zB-q-g6LCP3nI778Ma6svV7iXdWodKZus
> .
@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:NP320540.RAtT-b5LVqT8zB-q-g6LCP3nI778Ma6svV7iXdWodKZus130_head
{
this:
np:hasAssertion
dgn-np:NP320540.RAtT-b5LVqT8zB-q-g6LCP3nI778Ma6svV7iXdWodKZus130_assertion
;
np:hasProvenance
dgn-np:NP320540.RAtT-b5LVqT8zB-q-g6LCP3nI778Ma6svV7iXdWodKZus130_provenance
;
np:hasPublicationInfo
dgn-np:NP320540.RAtT-b5LVqT8zB-q-g6LCP3nI778Ma6svV7iXdWodKZus130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP320540.RAtT-b5LVqT8zB-q-g6LCP3nI778Ma6svV7iXdWodKZus130_assertion
a
np:Assertion
.
dgn-np:NP320540.RAtT-b5LVqT8zB-q-g6LCP3nI778Ma6svV7iXdWodKZus130_provenance
a
np:Provenance
.
dgn-np:NP320540.RAtT-b5LVqT8zB-q-g6LCP3nI778Ma6svV7iXdWodKZus130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP320540.RAtT-b5LVqT8zB-q-g6LCP3nI778Ma6svV7iXdWodKZus130_assertion
{
miriam-gene:1295
a
ncit:C16612
.
lld:C0010036
a
ncit:C7057
.
dgn-gda:DGNef155c471d1dc8dfc514518588bb4fde
sio:SIO_000628
miriam-gene:1295
,
lld:C0010036
;
a
sio:SIO_001121
.
}
dgn-np:NP320540.RAtT-b5LVqT8zB-q-g6LCP3nI778Ma6svV7iXdWodKZus130_provenance
{
dgn-np:NP320540.RAtT-b5LVqT8zB-q-g6LCP3nI778Ma6svV7iXdWodKZus130_assertion
dcterms:description
"[The absence of pathogenic mutations identified in the COL8A1 or COL8A2 genes in affected members of 15 pedigrees with familial FECD indicates that other genetic factors are involved in the development of this autosomal dominant corneal dystrophy.]. 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:16936088
;
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:NP320540.RAtT-b5LVqT8zB-q-g6LCP3nI778Ma6svV7iXdWodKZus130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:44+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" .
}