@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP54140.RA1GBy95I8-z2WtKdkfzxp2hJTTx4Uuqo9JobJW5Ll6oE
> .
@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:NP54140.RA1GBy95I8-z2WtKdkfzxp2hJTTx4Uuqo9JobJW5Ll6oE130_head
{
this:
np:hasAssertion
dgn-np:NP54140.RA1GBy95I8-z2WtKdkfzxp2hJTTx4Uuqo9JobJW5Ll6oE130_assertion
;
np:hasProvenance
dgn-np:NP54140.RA1GBy95I8-z2WtKdkfzxp2hJTTx4Uuqo9JobJW5Ll6oE130_provenance
;
np:hasPublicationInfo
dgn-np:NP54140.RA1GBy95I8-z2WtKdkfzxp2hJTTx4Uuqo9JobJW5Ll6oE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP54140.RA1GBy95I8-z2WtKdkfzxp2hJTTx4Uuqo9JobJW5Ll6oE130_assertion
a
np:Assertion
.
dgn-np:NP54140.RA1GBy95I8-z2WtKdkfzxp2hJTTx4Uuqo9JobJW5Ll6oE130_provenance
a
np:Provenance
.
dgn-np:NP54140.RA1GBy95I8-z2WtKdkfzxp2hJTTx4Uuqo9JobJW5Ll6oE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP54140.RA1GBy95I8-z2WtKdkfzxp2hJTTx4Uuqo9JobJW5Ll6oE130_assertion
{
miriam-gene:4653
a
ncit:C16612
.
lld:C0017601
a
ncit:C7057
.
dgn-gda:DGN5c0c0872cb6727284c68387c8f02850f
sio:SIO_000628
miriam-gene:4653
,
lld:C0017601
;
a
sio:SIO_001122
.
}
dgn-np:NP54140.RA1GBy95I8-z2WtKdkfzxp2hJTTx4Uuqo9JobJW5Ll6oE130_provenance
{
dgn-np:NP54140.RA1GBy95I8-z2WtKdkfzxp2hJTTx4Uuqo9JobJW5Ll6oE130_assertion
dcterms:description
"[MYOC and FOXC1 mutations are not involved in pathogenesis of primary congenital glaucoma in our patients. Thus, it is important to screen other loci for involvement in congenital glaucoma in cases which are negative or heterozygous for CYP1B1 mutations to have a better insight in to disease pathogenesis.]. 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:21031026
;
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:NP54140.RA1GBy95I8-z2WtKdkfzxp2hJTTx4Uuqo9JobJW5Ll6oE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:25+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" .
}