@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP534150.RA3gzyZix9nGwG4IUgZyntITMgcnFzCJX6RWz89MdX6IA
> .
@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:NP534150.RA3gzyZix9nGwG4IUgZyntITMgcnFzCJX6RWz89MdX6IA130_head
{
this:
np:hasAssertion
dgn-np:NP534150.RA3gzyZix9nGwG4IUgZyntITMgcnFzCJX6RWz89MdX6IA130_assertion
;
np:hasProvenance
dgn-np:NP534150.RA3gzyZix9nGwG4IUgZyntITMgcnFzCJX6RWz89MdX6IA130_provenance
;
np:hasPublicationInfo
dgn-np:NP534150.RA3gzyZix9nGwG4IUgZyntITMgcnFzCJX6RWz89MdX6IA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP534150.RA3gzyZix9nGwG4IUgZyntITMgcnFzCJX6RWz89MdX6IA130_assertion
a
np:Assertion
.
dgn-np:NP534150.RA3gzyZix9nGwG4IUgZyntITMgcnFzCJX6RWz89MdX6IA130_provenance
a
np:Provenance
.
dgn-np:NP534150.RA3gzyZix9nGwG4IUgZyntITMgcnFzCJX6RWz89MdX6IA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP534150.RA3gzyZix9nGwG4IUgZyntITMgcnFzCJX6RWz89MdX6IA130_assertion
{
miriam-gene:1409
a
ncit:C16612
.
lld:C0086543
a
ncit:C7057
.
dgn-gda:DGN427788f79231e3a4f2048836e0edfd7b
sio:SIO_000628
miriam-gene:1409
,
lld:C0086543
;
a
sio:SIO_001121
.
}
dgn-np:NP534150.RA3gzyZix9nGwG4IUgZyntITMgcnFzCJX6RWz89MdX6IA130_provenance
{
dgn-np:NP534150.RA3gzyZix9nGwG4IUgZyntITMgcnFzCJX6RWz89MdX6IA130_assertion
dcterms:description
"[Based upon the unique finding of the mutation and the expression of CRYAA in the lens, this R21L mutation in the CRYAA is considered to be causative for the dominant cataract phenotype.]. 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:16453125
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP534150.RA3gzyZix9nGwG4IUgZyntITMgcnFzCJX6RWz89MdX6IA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:22+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" .
}