@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP301415.RAAeFCsbAydt_I3MTiPalZWekW9eoinfK0RLcp44u5Mbg
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP301415.RAAeFCsbAydt_I3MTiPalZWekW9eoinfK0RLcp44u5Mbg130_head
{
this:
np:hasAssertion
dgn-np:NP301415.RAAeFCsbAydt_I3MTiPalZWekW9eoinfK0RLcp44u5Mbg130_assertion
;
np:hasProvenance
dgn-np:NP301415.RAAeFCsbAydt_I3MTiPalZWekW9eoinfK0RLcp44u5Mbg130_provenance
;
np:hasPublicationInfo
dgn-np:NP301415.RAAeFCsbAydt_I3MTiPalZWekW9eoinfK0RLcp44u5Mbg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP301415.RAAeFCsbAydt_I3MTiPalZWekW9eoinfK0RLcp44u5Mbg130_assertion
a
np:Assertion
.
dgn-np:NP301415.RAAeFCsbAydt_I3MTiPalZWekW9eoinfK0RLcp44u5Mbg130_provenance
a
np:Provenance
.
dgn-np:NP301415.RAAeFCsbAydt_I3MTiPalZWekW9eoinfK0RLcp44u5Mbg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP301415.RAAeFCsbAydt_I3MTiPalZWekW9eoinfK0RLcp44u5Mbg130_assertion
{
miriam-gene:90167
a
ncit:C16612
.
lld:C0001916
a
ncit:C7057
.
dgn-gda:DGNb36c8e9d44b5b8968eb7a5d64cafb8ba
sio:SIO_000628
miriam-gene:90167
,
lld:C0001916
;
a
sio:SIO_001121
.
}
dgn-np:NP301415.RAAeFCsbAydt_I3MTiPalZWekW9eoinfK0RLcp44u5Mbg130_provenance
{
dgn-np:NP301415.RAAeFCsbAydt_I3MTiPalZWekW9eoinfK0RLcp44u5Mbg130_assertion
dcterms:description
"[Analysis of specific diseases, such as albinism and achromatopsia as well as known genetic abnormalities, such as FRMD7 and PAX6 mutations, shows subtle but significant differences between nystagmus subtypes using eye movement recordings.]. 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:21951007
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP301415.RAAeFCsbAydt_I3MTiPalZWekW9eoinfK0RLcp44u5Mbg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:51+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}