@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI
> .
@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:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_head
{
this:
np:hasAssertion
dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_assertion
;
np:hasProvenance
dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_provenance
;
np:hasPublicationInfo
dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_assertion
a
np:Assertion
.
dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_provenance
a
np:Provenance
.
dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_assertion
{
miriam-gene:4935
a
ncit:C16612
.
lld:C0700501
a
ncit:C7057
.
dgn-gda:DGN592fac06f3d8c499fdcf6b01d0a618c6
sio:SIO_000628
miriam-gene:4935
,
lld:C0700501
;
a
sio:SIO_001121
.
}
dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_provenance
{
dgn-np:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_assertion
dcterms:description
"[These results suggest that this novel mutation is associated with the congenital nystagmus observed in this Chinese family and further support that GPR143 mutations are the underlying pathogenesis of the molecular mechanism for congenital nystagmus.]. 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:19390656
;
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:NP734444.RAj7-Q_-sWI3-wqUafy485RtjliT5ZAAib-1HI-YEWqAI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:18+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" .
}