@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP607023.RAymAYVklRYRn4OaBK6s926RnRw9YpLVWNJpOC1RI_zEo
> .
@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:NP607023.RAymAYVklRYRn4OaBK6s926RnRw9YpLVWNJpOC1RI_zEo130_head
{
this:
np:hasAssertion
dgn-np:NP607023.RAymAYVklRYRn4OaBK6s926RnRw9YpLVWNJpOC1RI_zEo130_assertion
;
np:hasProvenance
dgn-np:NP607023.RAymAYVklRYRn4OaBK6s926RnRw9YpLVWNJpOC1RI_zEo130_provenance
;
np:hasPublicationInfo
dgn-np:NP607023.RAymAYVklRYRn4OaBK6s926RnRw9YpLVWNJpOC1RI_zEo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP607023.RAymAYVklRYRn4OaBK6s926RnRw9YpLVWNJpOC1RI_zEo130_assertion
a
np:Assertion
.
dgn-np:NP607023.RAymAYVklRYRn4OaBK6s926RnRw9YpLVWNJpOC1RI_zEo130_provenance
a
np:Provenance
.
dgn-np:NP607023.RAymAYVklRYRn4OaBK6s926RnRw9YpLVWNJpOC1RI_zEo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP607023.RAymAYVklRYRn4OaBK6s926RnRw9YpLVWNJpOC1RI_zEo130_assertion
{
miriam-gene:4069
a
ncit:C16612
.
lld:C0031069
a
ncit:C7057
.
dgn-gda:DGNe12d4b1d416e688eb76a400ecb07fcc0
sio:SIO_000628
miriam-gene:4069
,
lld:C0031069
;
a
sio:SIO_001121
.
}
dgn-np:NP607023.RAymAYVklRYRn4OaBK6s926RnRw9YpLVWNJpOC1RI_zEo130_provenance
{
dgn-np:NP607023.RAymAYVklRYRn4OaBK6s926RnRw9YpLVWNJpOC1RI_zEo130_assertion
dcterms:description
"[Genetic testing of this rare Mendelian disorder (MIM no 249100) is efficient for early and prenatal diagnosis of the disease, especially for atypic cases, for carrier screening and pregnancy planning since certain mutations have been shown to have significant correlation with renal amyloidosis (RA), the most severe possible manifestation of FMF.]. 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:18403822
;
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:NP607023.RAymAYVklRYRn4OaBK6s926RnRw9YpLVWNJpOC1RI_zEo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:04+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: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" .
}