@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP553757.RAYtmX3TX7TKp0TcZloxKVCd_ggR2xBy8sJBY3QyaV1QY
> .
@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:NP553757.RAYtmX3TX7TKp0TcZloxKVCd_ggR2xBy8sJBY3QyaV1QY130_head
{
this:
np:hasAssertion
dgn-np:NP553757.RAYtmX3TX7TKp0TcZloxKVCd_ggR2xBy8sJBY3QyaV1QY130_assertion
;
np:hasProvenance
dgn-np:NP553757.RAYtmX3TX7TKp0TcZloxKVCd_ggR2xBy8sJBY3QyaV1QY130_provenance
;
np:hasPublicationInfo
dgn-np:NP553757.RAYtmX3TX7TKp0TcZloxKVCd_ggR2xBy8sJBY3QyaV1QY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP553757.RAYtmX3TX7TKp0TcZloxKVCd_ggR2xBy8sJBY3QyaV1QY130_assertion
a
np:Assertion
.
dgn-np:NP553757.RAYtmX3TX7TKp0TcZloxKVCd_ggR2xBy8sJBY3QyaV1QY130_provenance
a
np:Provenance
.
dgn-np:NP553757.RAYtmX3TX7TKp0TcZloxKVCd_ggR2xBy8sJBY3QyaV1QY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP553757.RAYtmX3TX7TKp0TcZloxKVCd_ggR2xBy8sJBY3QyaV1QY130_assertion
{
miriam-gene:8200
a
ncit:C16612
.
lld:C0039075
a
ncit:C7057
.
dgn-gda:DGN828356c96a748d522bd65e2da27e6b05
sio:SIO_000628
miriam-gene:8200
,
lld:C0039075
;
a
sio:SIO_001121
.
}
dgn-np:NP553757.RAYtmX3TX7TKp0TcZloxKVCd_ggR2xBy8sJBY3QyaV1QY130_provenance
{
dgn-np:NP553757.RAYtmX3TX7TKp0TcZloxKVCd_ggR2xBy8sJBY3QyaV1QY130_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:NP553757.RAYtmX3TX7TKp0TcZloxKVCd_ggR2xBy8sJBY3QyaV1QY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:34+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" .
}