@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1363508.RAvo8qQAczOUNoMxjMG4KKr0bBWCqwo1FJ_PrZlAyE7EQ
> .
@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:NP1363508.RAvo8qQAczOUNoMxjMG4KKr0bBWCqwo1FJ_PrZlAyE7EQ130_head
{
this:
np:hasAssertion
dgn-np:NP1363508.RAvo8qQAczOUNoMxjMG4KKr0bBWCqwo1FJ_PrZlAyE7EQ130_assertion
;
np:hasProvenance
dgn-np:NP1363508.RAvo8qQAczOUNoMxjMG4KKr0bBWCqwo1FJ_PrZlAyE7EQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP1363508.RAvo8qQAczOUNoMxjMG4KKr0bBWCqwo1FJ_PrZlAyE7EQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1363508.RAvo8qQAczOUNoMxjMG4KKr0bBWCqwo1FJ_PrZlAyE7EQ130_assertion
a
np:Assertion
.
dgn-np:NP1363508.RAvo8qQAczOUNoMxjMG4KKr0bBWCqwo1FJ_PrZlAyE7EQ130_provenance
a
np:Provenance
.
dgn-np:NP1363508.RAvo8qQAczOUNoMxjMG4KKr0bBWCqwo1FJ_PrZlAyE7EQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1363508.RAvo8qQAczOUNoMxjMG4KKr0bBWCqwo1FJ_PrZlAyE7EQ130_assertion
{
miriam-gene:2243
a
ncit:C16612
.
lld:C0268382
a
ncit:C7057
.
dgn-gda:DGN4cf28ae03b74b765e094d4933e1363e1
sio:SIO_000628
miriam-gene:2243
,
lld:C0268382
;
a
sio:SIO_001121
.
}
dgn-np:NP1363508.RAvo8qQAczOUNoMxjMG4KKr0bBWCqwo1FJ_PrZlAyE7EQ130_provenance
{
dgn-np:NP1363508.RAvo8qQAczOUNoMxjMG4KKr0bBWCqwo1FJ_PrZlAyE7EQ130_assertion
dcterms:description
"[The fibrinogen alpha-chain gene mutation (Val 526) is the genetic defect responsible for hereditary renal amyloidosis in these two kindreds, and the mutant genes in the Val 526 kindreds may have been derived from a single founder.]. 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:8944230
;
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:NP1363508.RAvo8qQAczOUNoMxjMG4KKr0bBWCqwo1FJ_PrZlAyE7EQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:04+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" .
}