@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP340.RAxWwFEcVkCJSV2W1qRmkBj12gYy6nBW8wFGv6F8lqw7s
> .
@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 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:NP340.RAxWwFEcVkCJSV2W1qRmkBj12gYy6nBW8wFGv6F8lqw7s130_head
{
this:
np:hasAssertion
dgn-np:NP340.RAxWwFEcVkCJSV2W1qRmkBj12gYy6nBW8wFGv6F8lqw7s130_assertion
;
np:hasProvenance
dgn-np:NP340.RAxWwFEcVkCJSV2W1qRmkBj12gYy6nBW8wFGv6F8lqw7s130_provenance
;
np:hasPublicationInfo
dgn-np:NP340.RAxWwFEcVkCJSV2W1qRmkBj12gYy6nBW8wFGv6F8lqw7s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP340.RAxWwFEcVkCJSV2W1qRmkBj12gYy6nBW8wFGv6F8lqw7s130_assertion
a
np:Assertion
.
dgn-np:NP340.RAxWwFEcVkCJSV2W1qRmkBj12gYy6nBW8wFGv6F8lqw7s130_provenance
a
np:Provenance
.
dgn-np:NP340.RAxWwFEcVkCJSV2W1qRmkBj12gYy6nBW8wFGv6F8lqw7s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP340.RAxWwFEcVkCJSV2W1qRmkBj12gYy6nBW8wFGv6F8lqw7s130_assertion
{
miriam-gene:7439
a
ncit:C16612
.
lld:C0339510
a
ncit:C7057
.
dgn-gda:DGN8a07b145f530bc75279c0a78f59f5a0f
sio:SIO_000628
miriam-gene:7439
,
lld:C0339510
;
a
sio:SIO_001122
.
}
dgn-np:NP340.RAxWwFEcVkCJSV2W1qRmkBj12gYy6nBW8wFGv6F8lqw7s130_provenance
{
dgn-np:NP340.RAxWwFEcVkCJSV2W1qRmkBj12gYy6nBW8wFGv6F8lqw7s130_assertion
dcterms:description
"[However, our results suggest that, in addition to Best disease, mutations within the bestrophin gene could be responsible for other forms of maculopathy with phenotypic characteristics similar to Best disease and for other diseases not included in the VMD category.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:10453731
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP340.RAxWwFEcVkCJSV2W1qRmkBj12gYy6nBW8wFGv6F8lqw7s130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:50+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" .
}