@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP319633.RAOq1q4FnUteI8hPJSyIi9pTY__iYVaUBFK0HysCFhZrA
> .
@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:NP319633.RAOq1q4FnUteI8hPJSyIi9pTY__iYVaUBFK0HysCFhZrA130_head
{
this:
np:hasAssertion
dgn-np:NP319633.RAOq1q4FnUteI8hPJSyIi9pTY__iYVaUBFK0HysCFhZrA130_assertion
;
np:hasProvenance
dgn-np:NP319633.RAOq1q4FnUteI8hPJSyIi9pTY__iYVaUBFK0HysCFhZrA130_provenance
;
np:hasPublicationInfo
dgn-np:NP319633.RAOq1q4FnUteI8hPJSyIi9pTY__iYVaUBFK0HysCFhZrA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP319633.RAOq1q4FnUteI8hPJSyIi9pTY__iYVaUBFK0HysCFhZrA130_assertion
a
np:Assertion
.
dgn-np:NP319633.RAOq1q4FnUteI8hPJSyIi9pTY__iYVaUBFK0HysCFhZrA130_provenance
a
np:Provenance
.
dgn-np:NP319633.RAOq1q4FnUteI8hPJSyIi9pTY__iYVaUBFK0HysCFhZrA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP319633.RAOq1q4FnUteI8hPJSyIi9pTY__iYVaUBFK0HysCFhZrA130_assertion
{
miriam-gene:8291
a
ncit:C16612
.
lld:C0151786
a
ncit:C7057
.
dgn-gda:DGN8e46180b8ee7f231ea9a32098cd277d8
sio:SIO_000628
miriam-gene:8291
,
lld:C0151786
;
a
sio:SIO_001121
.
}
dgn-np:NP319633.RAOq1q4FnUteI8hPJSyIi9pTY__iYVaUBFK0HysCFhZrA130_provenance
{
dgn-np:NP319633.RAOq1q4FnUteI8hPJSyIi9pTY__iYVaUBFK0HysCFhZrA130_assertion
dcterms:description
"[LGMD2B, Miyoshi Myopathy and Distal Anterior Compartment Myopathy are caused by mutations in the dysferlin gene (DYSF) leading to progressive muscular weakness and wasting with onset usually within the second or third decade of life.]. 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:18396043
;
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:NP319633.RAOq1q4FnUteI8hPJSyIi9pTY__iYVaUBFK0HysCFhZrA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:05+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" .
}