@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP345170.RAQPAPkcQbWwpfolEQKELz2n6_SkLAfaP_aI8rJqujDX8
> .
@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:NP345170.RAQPAPkcQbWwpfolEQKELz2n6_SkLAfaP_aI8rJqujDX8130_head
{
this:
np:hasAssertion
dgn-np:NP345170.RAQPAPkcQbWwpfolEQKELz2n6_SkLAfaP_aI8rJqujDX8130_assertion
;
np:hasProvenance
dgn-np:NP345170.RAQPAPkcQbWwpfolEQKELz2n6_SkLAfaP_aI8rJqujDX8130_provenance
;
np:hasPublicationInfo
dgn-np:NP345170.RAQPAPkcQbWwpfolEQKELz2n6_SkLAfaP_aI8rJqujDX8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP345170.RAQPAPkcQbWwpfolEQKELz2n6_SkLAfaP_aI8rJqujDX8130_assertion
a
np:Assertion
.
dgn-np:NP345170.RAQPAPkcQbWwpfolEQKELz2n6_SkLAfaP_aI8rJqujDX8130_provenance
a
np:Provenance
.
dgn-np:NP345170.RAQPAPkcQbWwpfolEQKELz2n6_SkLAfaP_aI8rJqujDX8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP345170.RAQPAPkcQbWwpfolEQKELz2n6_SkLAfaP_aI8rJqujDX8130_assertion
{
miriam-gene:90
a
ncit:C16612
.
lld:C0016037
a
ncit:C7057
.
dgn-gda:DGN250ec70fc11ed1e1f79c39de38a8b2ea
sio:SIO_000628
miriam-gene:90
,
lld:C0016037
;
a
sio:SIO_001121
.
}
dgn-np:NP345170.RAQPAPkcQbWwpfolEQKELz2n6_SkLAfaP_aI8rJqujDX8130_provenance
{
dgn-np:NP345170.RAQPAPkcQbWwpfolEQKELz2n6_SkLAfaP_aI8rJqujDX8130_assertion
dcterms:description
"[Fibrodysplasia ossificans progressiva (FOP) is the rare mendelian disease characterized by congenital malformation of the great toes preceding heterotopic ossification (HO) and caused by heterozygous activating mutation of the ACVR1 gene, which encodes the ALK2 receptor for bone morphogenetic proteins.]. 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:22131272
;
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:NP345170.RAQPAPkcQbWwpfolEQKELz2n6_SkLAfaP_aI8rJqujDX8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:23+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" .
}