@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP572300.RACgUSTbUQ8Pmt4swk7h6dw_9MKKXy3sCVhNYaNf_UX7s
> .
@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:NP572300.RACgUSTbUQ8Pmt4swk7h6dw_9MKKXy3sCVhNYaNf_UX7s130_head
{
this:
np:hasAssertion
dgn-np:NP572300.RACgUSTbUQ8Pmt4swk7h6dw_9MKKXy3sCVhNYaNf_UX7s130_assertion
;
np:hasProvenance
dgn-np:NP572300.RACgUSTbUQ8Pmt4swk7h6dw_9MKKXy3sCVhNYaNf_UX7s130_provenance
;
np:hasPublicationInfo
dgn-np:NP572300.RACgUSTbUQ8Pmt4swk7h6dw_9MKKXy3sCVhNYaNf_UX7s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP572300.RACgUSTbUQ8Pmt4swk7h6dw_9MKKXy3sCVhNYaNf_UX7s130_assertion
a
np:Assertion
.
dgn-np:NP572300.RACgUSTbUQ8Pmt4swk7h6dw_9MKKXy3sCVhNYaNf_UX7s130_provenance
a
np:Provenance
.
dgn-np:NP572300.RACgUSTbUQ8Pmt4swk7h6dw_9MKKXy3sCVhNYaNf_UX7s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP572300.RACgUSTbUQ8Pmt4swk7h6dw_9MKKXy3sCVhNYaNf_UX7s130_assertion
{
miriam-gene:1293
a
ncit:C16612
.
lld:C0410179
a
ncit:C7057
.
dgn-gda:DGN1b80257d65381611a5d6ee355a63cd20
sio:SIO_000628
miriam-gene:1293
,
lld:C0410179
;
a
sio:SIO_001121
.
}
dgn-np:NP572300.RACgUSTbUQ8Pmt4swk7h6dw_9MKKXy3sCVhNYaNf_UX7s130_provenance
{
dgn-np:NP572300.RACgUSTbUQ8Pmt4swk7h6dw_9MKKXy3sCVhNYaNf_UX7s130_assertion
dcterms:description
"[Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions which were previously believed to be completely separate entities.]. 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:16141002
;
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:NP572300.RACgUSTbUQ8Pmt4swk7h6dw_9MKKXy3sCVhNYaNf_UX7s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:45+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" .
}