@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP404484.RA0NY_5KUYjrav8leRKv87lH1rCnIbSDuNnTx5RsVF0uU
> .
@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:NP404484.RA0NY_5KUYjrav8leRKv87lH1rCnIbSDuNnTx5RsVF0uU130_head
{
this:
np:hasAssertion
dgn-np:NP404484.RA0NY_5KUYjrav8leRKv87lH1rCnIbSDuNnTx5RsVF0uU130_assertion
;
np:hasProvenance
dgn-np:NP404484.RA0NY_5KUYjrav8leRKv87lH1rCnIbSDuNnTx5RsVF0uU130_provenance
;
np:hasPublicationInfo
dgn-np:NP404484.RA0NY_5KUYjrav8leRKv87lH1rCnIbSDuNnTx5RsVF0uU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP404484.RA0NY_5KUYjrav8leRKv87lH1rCnIbSDuNnTx5RsVF0uU130_assertion
a
np:Assertion
.
dgn-np:NP404484.RA0NY_5KUYjrav8leRKv87lH1rCnIbSDuNnTx5RsVF0uU130_provenance
a
np:Provenance
.
dgn-np:NP404484.RA0NY_5KUYjrav8leRKv87lH1rCnIbSDuNnTx5RsVF0uU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP404484.RA0NY_5KUYjrav8leRKv87lH1rCnIbSDuNnTx5RsVF0uU130_assertion
{
miriam-gene:2296
a
ncit:C16612
.
lld:C0017601
a
ncit:C7057
.
dgn-gda:DGN44250751ff67b4eb5f6a7ffabdaceca4
sio:SIO_000628
miriam-gene:2296
,
lld:C0017601
;
a
sio:SIO_001122
.
}
dgn-np:NP404484.RA0NY_5KUYjrav8leRKv87lH1rCnIbSDuNnTx5RsVF0uU130_provenance
{
dgn-np:NP404484.RA0NY_5KUYjrav8leRKv87lH1rCnIbSDuNnTx5RsVF0uU130_assertion
dcterms:description
"[In this family harboring both structural alterations, two patients who carried the GJA1 (Ala253Val) and FOXC1 (Trp152STOP) mutations developed less severe glaucoma compared with family members presenting the FOXC1 (Trp152STOP) mutation alone.]. 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:16638984
;
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:NP404484.RA0NY_5KUYjrav8leRKv87lH1rCnIbSDuNnTx5RsVF0uU130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:35+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" .
}