@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1070066.RALYBOrT_g8pP6gYMcbZemxts04HYgixNGsuE-DWRek9M
> .
@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:NP1070066.RALYBOrT_g8pP6gYMcbZemxts04HYgixNGsuE-DWRek9M130_head
{
this:
np:hasAssertion
dgn-np:NP1070066.RALYBOrT_g8pP6gYMcbZemxts04HYgixNGsuE-DWRek9M130_assertion
;
np:hasProvenance
dgn-np:NP1070066.RALYBOrT_g8pP6gYMcbZemxts04HYgixNGsuE-DWRek9M130_provenance
;
np:hasPublicationInfo
dgn-np:NP1070066.RALYBOrT_g8pP6gYMcbZemxts04HYgixNGsuE-DWRek9M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1070066.RALYBOrT_g8pP6gYMcbZemxts04HYgixNGsuE-DWRek9M130_assertion
a
np:Assertion
.
dgn-np:NP1070066.RALYBOrT_g8pP6gYMcbZemxts04HYgixNGsuE-DWRek9M130_provenance
a
np:Provenance
.
dgn-np:NP1070066.RALYBOrT_g8pP6gYMcbZemxts04HYgixNGsuE-DWRek9M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1070066.RALYBOrT_g8pP6gYMcbZemxts04HYgixNGsuE-DWRek9M130_assertion
{
miriam-gene:30813
a
ncit:C16612
.
lld:C0339284
a
ncit:C7057
.
dgn-gda:DGN8e5b9240b3471850bcbc2537d6101fe0
sio:SIO_000628
miriam-gene:30813
,
lld:C0339284
;
a
sio:SIO_001121
.
}
dgn-np:NP1070066.RALYBOrT_g8pP6gYMcbZemxts04HYgixNGsuE-DWRek9M130_provenance
{
dgn-np:NP1070066.RALYBOrT_g8pP6gYMcbZemxts04HYgixNGsuE-DWRek9M130_assertion
dcterms:description
"[The affected numbers are small, but given the growing body of evidence of pathogenic segregating changes in VSX1 in disease cohorts, the expression in keratocytes as part of wound healing, and the documented association of PPCD and keratoconus, it seems likely that the role of VSX1 as a genetic factor contributing to disease is real.]. 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:23592923
;
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:NP1070066.RALYBOrT_g8pP6gYMcbZemxts04HYgixNGsuE-DWRek9M130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:51+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" .
}