@prefix dct: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1732.RANX0n8uqRsiswX86mIAP4xJqZ2U1FmavY9s3jUYfHj90
> .
@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 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:NP1732.RANX0n8uqRsiswX86mIAP4xJqZ2U1FmavY9s3jUYfHj90130_head
{
this:
np:hasAssertion
dgn-np:NP1732.RANX0n8uqRsiswX86mIAP4xJqZ2U1FmavY9s3jUYfHj90130_assertion
;
np:hasProvenance
dgn-np:NP1732.RANX0n8uqRsiswX86mIAP4xJqZ2U1FmavY9s3jUYfHj90130_provenance
;
np:hasPublicationInfo
dgn-np:NP1732.RANX0n8uqRsiswX86mIAP4xJqZ2U1FmavY9s3jUYfHj90130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1732.RANX0n8uqRsiswX86mIAP4xJqZ2U1FmavY9s3jUYfHj90130_assertion
a
np:Assertion
.
dgn-np:NP1732.RANX0n8uqRsiswX86mIAP4xJqZ2U1FmavY9s3jUYfHj90130_provenance
a
np:Provenance
.
dgn-np:NP1732.RANX0n8uqRsiswX86mIAP4xJqZ2U1FmavY9s3jUYfHj90130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1732.RANX0n8uqRsiswX86mIAP4xJqZ2U1FmavY9s3jUYfHj90130_assertion
{
miriam-gene:11081
a
ncit:C16612
.
lld:C1857574
a
ncit:C7057
.
dgn-gda:DGN1ad4214cfd66c5f1158b5699e4bbd673
sio:SIO_000628
miriam-gene:11081
,
lld:C1857574
;
a
sio:SIO_001122
.
}
dgn-np:NP1732.RANX0n8uqRsiswX86mIAP4xJqZ2U1FmavY9s3jUYfHj90130_provenance
{
dgn-np:NP1732.RANX0n8uqRsiswX86mIAP4xJqZ2U1FmavY9s3jUYfHj90130_assertion
dct:description
"[Linkage was sought to polymorphic microsatellite markers distributed around the CNA2 and microphthalmia loci (arCMIC, adCMIC, NNO1, and CHX10) using PCR and nondenaturing polyacrylamide gel electrophoresis before KERA was directly sequenced for mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:11726611
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP1732.RANX0n8uqRsiswX86mIAP4xJqZ2U1FmavY9s3jUYfHj90130_publicationInfo
{
this:
dct:created
"2016-05-13T12:41:50+02:00"^^
xsd:dateTime
;
dct:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dct:rightsHolder
dgn-void:IBIGroup
;
dct: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" .
}