@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo
> .
@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:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_head
{
this:
np:hasAssertion
dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_assertion
;
np:hasProvenance
dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_provenance
;
np:hasPublicationInfo
dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_assertion
a
np:Assertion
.
dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_provenance
a
np:Provenance
.
dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_assertion
{
miriam-gene:54903
a
ncit:C16612
.
lld:C0019247
a
ncit:C7057
.
dgn-gda:DGN50a86358da7a5848248c7362d4690dca
sio:SIO_000628
miriam-gene:54903
,
lld:C0019247
;
a
sio:SIO_001121
.
}
dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_provenance
{
dgn-np:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_assertion
dcterms:description
"[In Finland MES is effectively screened and relatively frequent with a birth prevalence of 1:9,000 and a disease gene frequency of 0.01 (ref.4) which is of the same order of magnitude as that of the most common recessive diseases belonging to the 'Finnish disease heritage', that is genetic disorders enriched or only encountered in Finland.]. 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:7550354
;
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:NP924037.RAVmyX7g8ym4CSBxB9ImdYz9xydaUoYVd9pLBuaoDfoXo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:27+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" .
}