@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP284645.RAlVpPc25CLc-cex5v7I1AYL8WmSA4NyMSFOTdCZ2iGeE
> .
@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:NP284645.RAlVpPc25CLc-cex5v7I1AYL8WmSA4NyMSFOTdCZ2iGeE130_head
{
this:
np:hasAssertion
dgn-np:NP284645.RAlVpPc25CLc-cex5v7I1AYL8WmSA4NyMSFOTdCZ2iGeE130_assertion
;
np:hasProvenance
dgn-np:NP284645.RAlVpPc25CLc-cex5v7I1AYL8WmSA4NyMSFOTdCZ2iGeE130_provenance
;
np:hasPublicationInfo
dgn-np:NP284645.RAlVpPc25CLc-cex5v7I1AYL8WmSA4NyMSFOTdCZ2iGeE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP284645.RAlVpPc25CLc-cex5v7I1AYL8WmSA4NyMSFOTdCZ2iGeE130_assertion
a
np:Assertion
.
dgn-np:NP284645.RAlVpPc25CLc-cex5v7I1AYL8WmSA4NyMSFOTdCZ2iGeE130_provenance
a
np:Provenance
.
dgn-np:NP284645.RAlVpPc25CLc-cex5v7I1AYL8WmSA4NyMSFOTdCZ2iGeE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP284645.RAlVpPc25CLc-cex5v7I1AYL8WmSA4NyMSFOTdCZ2iGeE130_assertion
{
miriam-gene:631
a
ncit:C16612
.
lld:C0086543
a
ncit:C7057
.
dgn-gda:DGN8798b1058840394446142bfa76f96344
sio:SIO_000628
miriam-gene:631
,
lld:C0086543
;
a
sio:SIO_001121
.
}
dgn-np:NP284645.RAlVpPc25CLc-cex5v7I1AYL8WmSA4NyMSFOTdCZ2iGeE130_provenance
{
dgn-np:NP284645.RAlVpPc25CLc-cex5v7I1AYL8WmSA4NyMSFOTdCZ2iGeE130_assertion
dcterms:description
"[Mutations in both proteins cause lens cataract and careful consideration of the detail of these cataract phenotypes alerts us to several interesting features concerning the function of filensin (BFSP1) and CP49 (BFSP2) in the lens.]. 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:17490642
;
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:NP284645.RAlVpPc25CLc-cex5v7I1AYL8WmSA4NyMSFOTdCZ2iGeE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:40+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" .
}