@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP272292.RAe-wMHZZeUXE-JejsOALuc6pxs-E4ktYKlY1aku9Jvg4
> .
@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:NP272292.RAe-wMHZZeUXE-JejsOALuc6pxs-E4ktYKlY1aku9Jvg4130_head
{
this:
np:hasAssertion
dgn-np:NP272292.RAe-wMHZZeUXE-JejsOALuc6pxs-E4ktYKlY1aku9Jvg4130_assertion
;
np:hasProvenance
dgn-np:NP272292.RAe-wMHZZeUXE-JejsOALuc6pxs-E4ktYKlY1aku9Jvg4130_provenance
;
np:hasPublicationInfo
dgn-np:NP272292.RAe-wMHZZeUXE-JejsOALuc6pxs-E4ktYKlY1aku9Jvg4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP272292.RAe-wMHZZeUXE-JejsOALuc6pxs-E4ktYKlY1aku9Jvg4130_assertion
a
np:Assertion
.
dgn-np:NP272292.RAe-wMHZZeUXE-JejsOALuc6pxs-E4ktYKlY1aku9Jvg4130_provenance
a
np:Provenance
.
dgn-np:NP272292.RAe-wMHZZeUXE-JejsOALuc6pxs-E4ktYKlY1aku9Jvg4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP272292.RAe-wMHZZeUXE-JejsOALuc6pxs-E4ktYKlY1aku9Jvg4130_assertion
{
miriam-gene:2700
a
ncit:C16612
.
lld:C1858679
a
ncit:C7057
.
dgn-gda:DGN9848875dfcabbd32156a5fa91708aeb5
sio:SIO_000628
miriam-gene:2700
,
lld:C1858679
;
a
sio:SIO_001121
.
}
dgn-np:NP272292.RAe-wMHZZeUXE-JejsOALuc6pxs-E4ktYKlY1aku9Jvg4130_provenance
{
dgn-np:NP272292.RAe-wMHZZeUXE-JejsOALuc6pxs-E4ktYKlY1aku9Jvg4130_assertion
dcterms:description
"[These data confirm GJA3 as one of the most frequently mutated genes that underlie autosomal dominant cataract in humans, and further emphasize the importance of connexin function in maintaining lens transparency.]. 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:21897748
;
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:NP272292.RAe-wMHZZeUXE-JejsOALuc6pxs-E4ktYKlY1aku9Jvg4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:33+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" .
}