@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP917157.RAp0I95eLsF56LJ0U4SVJBQolmRoc36FkNDHSAQt0MY08
> .
@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:NP917157.RAp0I95eLsF56LJ0U4SVJBQolmRoc36FkNDHSAQt0MY08130_head
{
this:
np:hasAssertion
dgn-np:NP917157.RAp0I95eLsF56LJ0U4SVJBQolmRoc36FkNDHSAQt0MY08130_assertion
;
np:hasProvenance
dgn-np:NP917157.RAp0I95eLsF56LJ0U4SVJBQolmRoc36FkNDHSAQt0MY08130_provenance
;
np:hasPublicationInfo
dgn-np:NP917157.RAp0I95eLsF56LJ0U4SVJBQolmRoc36FkNDHSAQt0MY08130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP917157.RAp0I95eLsF56LJ0U4SVJBQolmRoc36FkNDHSAQt0MY08130_assertion
a
np:Assertion
.
dgn-np:NP917157.RAp0I95eLsF56LJ0U4SVJBQolmRoc36FkNDHSAQt0MY08130_provenance
a
np:Provenance
.
dgn-np:NP917157.RAp0I95eLsF56LJ0U4SVJBQolmRoc36FkNDHSAQt0MY08130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP917157.RAp0I95eLsF56LJ0U4SVJBQolmRoc36FkNDHSAQt0MY08130_assertion
{
miriam-gene:2703
a
ncit:C16612
.
lld:C0266544
a
ncit:C7057
.
dgn-gda:DGNf8262a44a47e92f75674f9f0258d4fd9
sio:SIO_000628
miriam-gene:2703
,
lld:C0266544
;
a
sio:SIO_001121
.
}
dgn-np:NP917157.RAp0I95eLsF56LJ0U4SVJBQolmRoc36FkNDHSAQt0MY08130_provenance
{
dgn-np:NP917157.RAp0I95eLsF56LJ0U4SVJBQolmRoc36FkNDHSAQt0MY08130_assertion
dcterms:description
"[The result expands the mutation spectrum of GJA8 in associated with congenital cataract and microcornea, and implies that this gene has direct involvement with the development of the lens as well as the other anterior segment of the eye.]. 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:20806042
;
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:NP917157.RAp0I95eLsF56LJ0U4SVJBQolmRoc36FkNDHSAQt0MY08130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:23+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" .
}