@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP629030.RAxPjSk0hmBmlCc5JbWmIRooQ_XbkcZu8aqFD0L6hxwjg
> .
@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:NP629030.RAxPjSk0hmBmlCc5JbWmIRooQ_XbkcZu8aqFD0L6hxwjg130_head
{
this:
np:hasAssertion
dgn-np:NP629030.RAxPjSk0hmBmlCc5JbWmIRooQ_XbkcZu8aqFD0L6hxwjg130_assertion
;
np:hasProvenance
dgn-np:NP629030.RAxPjSk0hmBmlCc5JbWmIRooQ_XbkcZu8aqFD0L6hxwjg130_provenance
;
np:hasPublicationInfo
dgn-np:NP629030.RAxPjSk0hmBmlCc5JbWmIRooQ_XbkcZu8aqFD0L6hxwjg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP629030.RAxPjSk0hmBmlCc5JbWmIRooQ_XbkcZu8aqFD0L6hxwjg130_assertion
a
np:Assertion
.
dgn-np:NP629030.RAxPjSk0hmBmlCc5JbWmIRooQ_XbkcZu8aqFD0L6hxwjg130_provenance
a
np:Provenance
.
dgn-np:NP629030.RAxPjSk0hmBmlCc5JbWmIRooQ_XbkcZu8aqFD0L6hxwjg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP629030.RAxPjSk0hmBmlCc5JbWmIRooQ_XbkcZu8aqFD0L6hxwjg130_assertion
{
miriam-gene:8291
a
ncit:C16612
.
lld:C1850889
a
ncit:C7057
.
dgn-gda:DGN0e6d9e32a7683ed6855d8fa7f1244cb7
sio:SIO_000628
miriam-gene:8291
,
lld:C1850889
;
a
sio:SIO_001121
.
}
dgn-np:NP629030.RAxPjSk0hmBmlCc5JbWmIRooQ_XbkcZu8aqFD0L6hxwjg130_provenance
{
dgn-np:NP629030.RAxPjSk0hmBmlCc5JbWmIRooQ_XbkcZu8aqFD0L6hxwjg130_assertion
dcterms:description
"[Dysferlin encoding gene (DYS) is mutated in the autosomal recessive disorders Miyoshi myopathy, Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and distal anterior compartment myopathy, causing dysferlin deficiency in muscle biopsy.]. 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:17825554
;
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:NP629030.RAxPjSk0hmBmlCc5JbWmIRooQ_XbkcZu8aqFD0L6hxwjg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:30+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" .
}