@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP184995.RAmTZ2EFE6nfDD1bNokUyHpflwaNP3ldszIjODLIx5klM
> .
@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:NP184995.RAmTZ2EFE6nfDD1bNokUyHpflwaNP3ldszIjODLIx5klM130_head
{
this:
np:hasAssertion
dgn-np:NP184995.RAmTZ2EFE6nfDD1bNokUyHpflwaNP3ldszIjODLIx5klM130_assertion
;
np:hasProvenance
dgn-np:NP184995.RAmTZ2EFE6nfDD1bNokUyHpflwaNP3ldszIjODLIx5klM130_provenance
;
np:hasPublicationInfo
dgn-np:NP184995.RAmTZ2EFE6nfDD1bNokUyHpflwaNP3ldszIjODLIx5klM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP184995.RAmTZ2EFE6nfDD1bNokUyHpflwaNP3ldszIjODLIx5klM130_assertion
a
np:Assertion
.
dgn-np:NP184995.RAmTZ2EFE6nfDD1bNokUyHpflwaNP3ldszIjODLIx5klM130_provenance
a
np:Provenance
.
dgn-np:NP184995.RAmTZ2EFE6nfDD1bNokUyHpflwaNP3ldszIjODLIx5klM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP184995.RAmTZ2EFE6nfDD1bNokUyHpflwaNP3ldszIjODLIx5klM130_assertion
{
miriam-gene:2195
a
ncit:C16612
.
lld:C0011053
a
ncit:C7057
.
dgn-gda:DGN66651d95d3c1efe401c7fc83114c9557
sio:SIO_000628
miriam-gene:2195
,
lld:C0011053
;
a
sio:SIO_001121
.
}
dgn-np:NP184995.RAmTZ2EFE6nfDD1bNokUyHpflwaNP3ldszIjODLIx5klM130_provenance
{
dgn-np:NP184995.RAmTZ2EFE6nfDD1bNokUyHpflwaNP3ldszIjODLIx5klM130_assertion
dcterms:description
"[FAT1 lies near the critical locus involved in causing FSHD, and Fat1 mutant mice also show retinal vasculopathy, mimicking another symptom of FSHD, and showed abnormal inner ear patterning, predictive of deafness, reminiscent of another burden of FSHD.]. 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:23785297
;
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:NP184995.RAmTZ2EFE6nfDD1bNokUyHpflwaNP3ldszIjODLIx5klM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:41+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" .
}