@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP370969.RAENF7poNAbFImMtfZR7TOkosIjgfaaGMGd_SpK9f0YpI
> .
@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:NP370969.RAENF7poNAbFImMtfZR7TOkosIjgfaaGMGd_SpK9f0YpI130_head
{
this:
np:hasAssertion
dgn-np:NP370969.RAENF7poNAbFImMtfZR7TOkosIjgfaaGMGd_SpK9f0YpI130_assertion
;
np:hasProvenance
dgn-np:NP370969.RAENF7poNAbFImMtfZR7TOkosIjgfaaGMGd_SpK9f0YpI130_provenance
;
np:hasPublicationInfo
dgn-np:NP370969.RAENF7poNAbFImMtfZR7TOkosIjgfaaGMGd_SpK9f0YpI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP370969.RAENF7poNAbFImMtfZR7TOkosIjgfaaGMGd_SpK9f0YpI130_assertion
a
np:Assertion
.
dgn-np:NP370969.RAENF7poNAbFImMtfZR7TOkosIjgfaaGMGd_SpK9f0YpI130_provenance
a
np:Provenance
.
dgn-np:NP370969.RAENF7poNAbFImMtfZR7TOkosIjgfaaGMGd_SpK9f0YpI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP370969.RAENF7poNAbFImMtfZR7TOkosIjgfaaGMGd_SpK9f0YpI130_assertion
{
miriam-gene:658
a
ncit:C16612
.
lld:C0206762
a
ncit:C7057
.
dgn-gda:DGN010c1a094ed6ff58469b1dccb2498d87
sio:SIO_000628
miriam-gene:658
,
lld:C0206762
;
a
sio:SIO_001121
.
}
dgn-np:NP370969.RAENF7poNAbFImMtfZR7TOkosIjgfaaGMGd_SpK9f0YpI130_provenance
{
dgn-np:NP370969.RAENF7poNAbFImMtfZR7TOkosIjgfaaGMGd_SpK9f0YpI130_assertion
dcterms:description
"[Autosomal-dominant brachydactyly type A2 (BDA2), a limb malformation characterized by hypoplastic middle phalanges of the second and fifth fingers, has been shown to be due to mutations in the Bone morphogenetic protein receptor 1B (BMPR1B) or in its ligand Growth and differentiation factor 5 (GDF5).]. 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:19327734
;
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:NP370969.RAENF7poNAbFImMtfZR7TOkosIjgfaaGMGd_SpK9f0YpI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:37+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" .
}