@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP523341.RApmit9PLaMR1ZZeq8eZP7f1zPuvnfGyM0FVhNcGkQVzg
> .
@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:NP523341.RApmit9PLaMR1ZZeq8eZP7f1zPuvnfGyM0FVhNcGkQVzg130_head
{
this:
np:hasAssertion
dgn-np:NP523341.RApmit9PLaMR1ZZeq8eZP7f1zPuvnfGyM0FVhNcGkQVzg130_assertion
;
np:hasProvenance
dgn-np:NP523341.RApmit9PLaMR1ZZeq8eZP7f1zPuvnfGyM0FVhNcGkQVzg130_provenance
;
np:hasPublicationInfo
dgn-np:NP523341.RApmit9PLaMR1ZZeq8eZP7f1zPuvnfGyM0FVhNcGkQVzg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP523341.RApmit9PLaMR1ZZeq8eZP7f1zPuvnfGyM0FVhNcGkQVzg130_assertion
a
np:Assertion
.
dgn-np:NP523341.RApmit9PLaMR1ZZeq8eZP7f1zPuvnfGyM0FVhNcGkQVzg130_provenance
a
np:Provenance
.
dgn-np:NP523341.RApmit9PLaMR1ZZeq8eZP7f1zPuvnfGyM0FVhNcGkQVzg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP523341.RApmit9PLaMR1ZZeq8eZP7f1zPuvnfGyM0FVhNcGkQVzg130_assertion
{
miriam-gene:2489
a
ncit:C16612
.
lld:C0238288
a
ncit:C7057
.
dgn-gda:DGNb99cedaec4687f7a8acbb7d574818bbe
sio:SIO_000628
miriam-gene:2489
,
lld:C0238288
;
a
sio:SIO_001121
.
}
dgn-np:NP523341.RApmit9PLaMR1ZZeq8eZP7f1zPuvnfGyM0FVhNcGkQVzg130_provenance
{
dgn-np:NP523341.RApmit9PLaMR1ZZeq8eZP7f1zPuvnfGyM0FVhNcGkQVzg130_assertion
dcterms:description
"[For facioscapulohumeral muscular dystrophy (FSHD), using this approach, and based on the presence or absence of characteristic clinical signs rather than on an historical account of age at onset, estimates were derived for penetrance of the FSHD gene of less than 5% for ages 0 to 4 years, 21% for ages 5 to 9, 58% for ages 10 to 14, 86% for ages 15 to 19, and 95% penetrance for age 20 years and over.]. 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:2614794
;
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:NP523341.RApmit9PLaMR1ZZeq8eZP7f1zPuvnfGyM0FVhNcGkQVzg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:11+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" .
}