@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g
> .
@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:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_head
{
this:
np:hasAssertion
dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_assertion
;
np:hasProvenance
dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_provenance
;
np:hasPublicationInfo
dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_assertion
a
np:Assertion
.
dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_provenance
a
np:Provenance
.
dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_assertion
{
miriam-gene:825
a
ncit:C16612
.
lld:C1869123
a
ncit:C7057
.
dgn-gda:DGNba41fc7c1cf0e9ff24546cc106e4f3a3
sio:SIO_000628
miriam-gene:825
,
lld:C1869123
;
a
sio:SIO_001121
.
}
dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_provenance
{
dgn-np:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_assertion
dcterms:description
"[Loss of proteolytic function or change of other properties of this enzyme (such as stability or ability to interact with other muscular proteins) is manifested as limb girdle muscular dystrophy type 2A (LGMD2A, calpainopathy).]. 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:15351423
;
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:NP458802.RAyHy0MgZ6Ir_HR7FWNKnSjbHSMuC6wKqaL_LyiCNqU2g130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:13+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" .
}