@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk
> .
@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:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_head
{
this:
np:hasAssertion
dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_assertion
;
np:hasProvenance
dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_provenance
;
np:hasPublicationInfo
dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_assertion
a
np:Assertion
.
dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_provenance
a
np:Provenance
.
dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_assertion
{
miriam-gene:6442
a
ncit:C16612
.
lld:C2936332
a
ncit:C7057
.
dgn-gda:DGN9382a669b74991ae6348b364c7269204
sio:SIO_000628
miriam-gene:6442
,
lld:C2936332
;
a
sio:SIO_001121
.
}
dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_provenance
{
dgn-np:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_assertion
dcterms:description
"[Defect of SGCA was previously shown to lead to severe childhood autosomal recessive muscular dystrophy (LGMD2D) which result in progressive muscle weakness and can also be associated with hyperlordosis or scoliosis.]. 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:25106685
;
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:NP1208982.RAtNbeM_SjQIqKG4hWnpoU4RXQFglo2tDrVaum2VqQVHk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:54+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" .
}