@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE
> .
@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/v4.0.0/void/
> .
dgn-np:NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_head
{
this:
np:hasAssertion
dgn-np:NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_assertion
;
np:hasProvenance
dgn-np:NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_provenance
;
np:hasPublicationInfo
dgn-np:NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_assertion
a
np:Assertion
.
dgn-np:NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_provenance
a
np:Provenance
.
dgn-np:NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_assertion
{
miriam-gene:1409
a
ncit:C16612
.
lld:C0086543
a
ncit:C7057
.
dgn-gda:DGNfad8fbcfd62c7bc8b7b66cd623ffbbb2
sio:SIO_000628
miriam-gene:1409
,
lld:C0086543
;
a
sio:SIO_001122
.
}
dgn-np:NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_provenance
{
dgn-np:NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_assertion
dcterms:description
"[R54C is the second reported recessive CRYAA mutation associated with congenital cataract and the first with described morphology.punctuate lenticular opacities in carriers and congenital total white cataract with microcornea in homozygotes.]. 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:17937925
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:30+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}