@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1405831.RACEZ805ElLhIIuYj77R0Y0lUlMzDHVpwfFHktQSiGHek
> .
@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/
> .
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{
this:
np:hasAssertion
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np:hasProvenance
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dgn-np:NP1405831.RACEZ805ElLhIIuYj77R0Y0lUlMzDHVpwfFHktQSiGHek130_publicationInfo
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a
np:Nanopublication
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dgn-np:NP1405831.RACEZ805ElLhIIuYj77R0Y0lUlMzDHVpwfFHktQSiGHek130_assertion
a
np:Assertion
.
dgn-np:NP1405831.RACEZ805ElLhIIuYj77R0Y0lUlMzDHVpwfFHktQSiGHek130_provenance
a
np:Provenance
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dgn-np:NP1405831.RACEZ805ElLhIIuYj77R0Y0lUlMzDHVpwfFHktQSiGHek130_publicationInfo
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{
miriam-gene:4653
a
ncit:C16612
.
lld:C0339573
a
ncit:C7057
.
dgn-gda:DGN57a67a394c753a0298f24217a6bf3d03
sio:SIO_000628
miriam-gene:4653
,
lld:C0339573
;
a
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.
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dgn-np:NP1405831.RACEZ805ElLhIIuYj77R0Y0lUlMzDHVpwfFHktQSiGHek130_provenance
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dgn-np:NP1405831.RACEZ805ElLhIIuYj77R0Y0lUlMzDHVpwfFHktQSiGHek130_assertion
dcterms:description
"[Our primary objectives were (1) to identify mutations responsible for glaucoma in members of three families for which we have shown linkage between chromosome 1 GLC1A-region markers and the primary open angle glaucoma (POAG) phenotype, and (2) to determine the relationship of these and other mutations to key points of predicted function and structure of the TIGR/MYOC protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
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sio:SIO_000772
miriam-pubmed:9772276
;
prov:wasDerivedFrom
dgn-void:befree-2016
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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 .
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dgn-np:NP1405831.RACEZ805ElLhIIuYj77R0Y0lUlMzDHVpwfFHktQSiGHek130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:24+02:00"^^
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
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
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<
http://orcid.org/0000-0003-0169-8159
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pav:version
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