@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP625249.RA1XZn81ctS3818_QIOHJ0o13DtzZ8G-q1P7LRP2ulmQA
> .
@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:NP625249.RA1XZn81ctS3818_QIOHJ0o13DtzZ8G-q1P7LRP2ulmQA130_head
{
this:
np:hasAssertion
dgn-np:NP625249.RA1XZn81ctS3818_QIOHJ0o13DtzZ8G-q1P7LRP2ulmQA130_assertion
;
np:hasProvenance
dgn-np:NP625249.RA1XZn81ctS3818_QIOHJ0o13DtzZ8G-q1P7LRP2ulmQA130_provenance
;
np:hasPublicationInfo
dgn-np:NP625249.RA1XZn81ctS3818_QIOHJ0o13DtzZ8G-q1P7LRP2ulmQA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP625249.RA1XZn81ctS3818_QIOHJ0o13DtzZ8G-q1P7LRP2ulmQA130_assertion
a
np:Assertion
.
dgn-np:NP625249.RA1XZn81ctS3818_QIOHJ0o13DtzZ8G-q1P7LRP2ulmQA130_provenance
a
np:Provenance
.
dgn-np:NP625249.RA1XZn81ctS3818_QIOHJ0o13DtzZ8G-q1P7LRP2ulmQA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP625249.RA1XZn81ctS3818_QIOHJ0o13DtzZ8G-q1P7LRP2ulmQA130_assertion
{
miriam-gene:658
a
ncit:C16612
.
lld:C1832702
a
ncit:C7057
.
dgn-gda:DGN00ceb817267a2e2eab570475de6d568f
sio:SIO_000628
miriam-gene:658
,
lld:C1832702
;
a
sio:SIO_001121
.
}
dgn-np:NP625249.RA1XZn81ctS3818_QIOHJ0o13DtzZ8G-q1P7LRP2ulmQA130_provenance
{
dgn-np:NP625249.RA1XZn81ctS3818_QIOHJ0o13DtzZ8G-q1P7LRP2ulmQA130_assertion
dcterms:description
"[They cause brachydactyly type A2 (L441P) and symphalangism (R438L), conditions previously associated with mutations in the GDF5 receptor bone morphogenetic protein receptor type 1b (BMPR1B) and the BMP antagonist NOGGIN, respectively.]. 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:16127465
;
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:NP625249.RA1XZn81ctS3818_QIOHJ0o13DtzZ8G-q1P7LRP2ulmQA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:17+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" .
}