@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1388722.RAbPlYAv2SdnxxwCpxy9GSk2JfkcLWrhsiBaxMRzm7rrA
> .
@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:NP1388722.RAbPlYAv2SdnxxwCpxy9GSk2JfkcLWrhsiBaxMRzm7rrA130_head
{
this:
np:hasAssertion
dgn-np:NP1388722.RAbPlYAv2SdnxxwCpxy9GSk2JfkcLWrhsiBaxMRzm7rrA130_assertion
;
np:hasProvenance
dgn-np:NP1388722.RAbPlYAv2SdnxxwCpxy9GSk2JfkcLWrhsiBaxMRzm7rrA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1388722.RAbPlYAv2SdnxxwCpxy9GSk2JfkcLWrhsiBaxMRzm7rrA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1388722.RAbPlYAv2SdnxxwCpxy9GSk2JfkcLWrhsiBaxMRzm7rrA130_assertion
a
np:Assertion
.
dgn-np:NP1388722.RAbPlYAv2SdnxxwCpxy9GSk2JfkcLWrhsiBaxMRzm7rrA130_provenance
a
np:Provenance
.
dgn-np:NP1388722.RAbPlYAv2SdnxxwCpxy9GSk2JfkcLWrhsiBaxMRzm7rrA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1388722.RAbPlYAv2SdnxxwCpxy9GSk2JfkcLWrhsiBaxMRzm7rrA130_assertion
{
miriam-gene:1287
a
ncit:C16612
.
lld:C1567741
a
ncit:C7057
.
dgn-gda:DGN44ccf785c65e1121b445c604fccca46b
sio:SIO_000628
miriam-gene:1287
,
lld:C1567741
;
a
sio:SIO_001121
.
}
dgn-np:NP1388722.RAbPlYAv2SdnxxwCpxy9GSk2JfkcLWrhsiBaxMRzm7rrA130_provenance
{
dgn-np:NP1388722.RAbPlYAv2SdnxxwCpxy9GSk2JfkcLWrhsiBaxMRzm7rrA130_assertion
dcterms:description
"[Diffuse leiomyomatosis (DL) with Alport syndrome (AS) has been shown to be associated with contiguous gene deletions of the COL4A5 and COL4A6 genes, with the COL4A6 breakpoint of the deletions invariably located in the large intron 2 of the gene.]. 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:9465897
;
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:NP1388722.RAbPlYAv2SdnxxwCpxy9GSk2JfkcLWrhsiBaxMRzm7rrA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:15+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" .
}