@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP568978.RA5MF8l4c-hfoK3LJuAQVReGIqZVPzXimcelnXHZybCHc
> .
@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:NP568978.RA5MF8l4c-hfoK3LJuAQVReGIqZVPzXimcelnXHZybCHc130_head
{
this:
np:hasAssertion
dgn-np:NP568978.RA5MF8l4c-hfoK3LJuAQVReGIqZVPzXimcelnXHZybCHc130_assertion
;
np:hasProvenance
dgn-np:NP568978.RA5MF8l4c-hfoK3LJuAQVReGIqZVPzXimcelnXHZybCHc130_provenance
;
np:hasPublicationInfo
dgn-np:NP568978.RA5MF8l4c-hfoK3LJuAQVReGIqZVPzXimcelnXHZybCHc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP568978.RA5MF8l4c-hfoK3LJuAQVReGIqZVPzXimcelnXHZybCHc130_assertion
a
np:Assertion
.
dgn-np:NP568978.RA5MF8l4c-hfoK3LJuAQVReGIqZVPzXimcelnXHZybCHc130_provenance
a
np:Provenance
.
dgn-np:NP568978.RA5MF8l4c-hfoK3LJuAQVReGIqZVPzXimcelnXHZybCHc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP568978.RA5MF8l4c-hfoK3LJuAQVReGIqZVPzXimcelnXHZybCHc130_assertion
{
miriam-gene:23592
a
ncit:C16612
.
lld:C0029455
a
ncit:C7057
.
dgn-gda:DGN013ff2a72cc9058760d2bb7b4f87b7ad
sio:SIO_000628
miriam-gene:23592
,
lld:C0029455
;
a
sio:SIO_001121
.
}
dgn-np:NP568978.RA5MF8l4c-hfoK3LJuAQVReGIqZVPzXimcelnXHZybCHc130_provenance
{
dgn-np:NP568978.RA5MF8l4c-hfoK3LJuAQVReGIqZVPzXimcelnXHZybCHc130_assertion
dcterms:description
"[We investigated LEMD3 in a three-generation family with osteopoikilosis from the Azores, an affected father and daughter from Ireland with osteopoikilosis (the daughter also had melorheostosis), and two other individuals from the UK with isolated melorheostosis.]. 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:17622481
;
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:NP568978.RA5MF8l4c-hfoK3LJuAQVReGIqZVPzXimcelnXHZybCHc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:43+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" .
}