@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP89375.RAxZOgCePwHSc1f9KVwxKH4QfpXws5di3OLgzfpCWsKbE
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP89375.RAxZOgCePwHSc1f9KVwxKH4QfpXws5di3OLgzfpCWsKbE130_head
{
this:
np:hasAssertion
dgn-np:NP89375.RAxZOgCePwHSc1f9KVwxKH4QfpXws5di3OLgzfpCWsKbE130_assertion
;
np:hasProvenance
dgn-np:NP89375.RAxZOgCePwHSc1f9KVwxKH4QfpXws5di3OLgzfpCWsKbE130_provenance
;
np:hasPublicationInfo
dgn-np:NP89375.RAxZOgCePwHSc1f9KVwxKH4QfpXws5di3OLgzfpCWsKbE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP89375.RAxZOgCePwHSc1f9KVwxKH4QfpXws5di3OLgzfpCWsKbE130_assertion
a
np:Assertion
.
dgn-np:NP89375.RAxZOgCePwHSc1f9KVwxKH4QfpXws5di3OLgzfpCWsKbE130_provenance
a
np:Provenance
.
dgn-np:NP89375.RAxZOgCePwHSc1f9KVwxKH4QfpXws5di3OLgzfpCWsKbE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP89375.RAxZOgCePwHSc1f9KVwxKH4QfpXws5di3OLgzfpCWsKbE130_assertion
{
miriam-gene:1296
a
ncit:C16612
.
lld:C0016781
a
ncit:C7057
.
dgn-gda:DGN8f5ebeb9c0ffcbe7e4a8ed773569e31d
sio:SIO_000628
miriam-gene:1296
,
lld:C0016781
;
a
sio:SIO_001122
.
}
dgn-np:NP89375.RAxZOgCePwHSc1f9KVwxKH4QfpXws5di3OLgzfpCWsKbE130_provenance
{
dgn-np:NP89375.RAxZOgCePwHSc1f9KVwxKH4QfpXws5di3OLgzfpCWsKbE130_assertion
dcterms:description
"[This is the first study analysing COL8A2 gene in Indian patients with FECD. No pathogenic mutations were identified in COL8A2. Merely silent changes, which showed statistically insignificant association with FECD, were identified in the screening of SLC4A11 gene. These results suggest that COL8A2, SLC4A11 genes may not be responsible for FECD in patients examined in this study.]. 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:20144242
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP89375.RAxZOgCePwHSc1f9KVwxKH4QfpXws5di3OLgzfpCWsKbE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:44+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}