@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP346116.RAnhCbdYpk9UgWQ0AktlfxzRawU5OuToFQe7V9ujRSE2g
> .
@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:NP346116.RAnhCbdYpk9UgWQ0AktlfxzRawU5OuToFQe7V9ujRSE2g130_head
{
this:
np:hasAssertion
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;
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a
np:Nanopublication
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a
np:Assertion
.
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a
np:Provenance
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{
miriam-gene:24
a
ncit:C16612
.
lld:C0242383
a
ncit:C7057
.
dgn-gda:DGNd12e4c9d40b433d1c822278559ad87ee
sio:SIO_000628
miriam-gene:24
,
lld:C0242383
;
a
sio:SIO_001121
.
}
dgn-np:NP346116.RAnhCbdYpk9UgWQ0AktlfxzRawU5OuToFQe7V9ujRSE2g130_provenance
{
dgn-np:NP346116.RAnhCbdYpk9UgWQ0AktlfxzRawU5OuToFQe7V9ujRSE2g130_assertion
dcterms:description
"[Our studies on candidate genes of eye diseases in the Chinese population in Hong Kong include MYOC and TISR for primary open angle glaucoma, RHO and RP1 for retinitis pigmentosa, ABCA4 and APOE for age-related macular degeneration, RB1 for retinoblastoma, APC for familial adenomatous polyposis with congenital hypertrophy of retinal pigment epithelium, BIGH3/TGFBI for corneal dystrophies, PAX6 for aniridia and Reiger syndrome, CRYAA and CRYBB2 for cataracts, and mtDNA for Leber hereditary optic neuropathy.]. 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:11857735
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP346116.RAnhCbdYpk9UgWQ0AktlfxzRawU5OuToFQe7V9ujRSE2g130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
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pav:authoredBy
<
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> , <
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> , <
http://orcid.org/0000-0002-9383-528X
> , <
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http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
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> ;
pav:version
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pav:version
"v4.0.0" .
}