@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk
> .
@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:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_head
{
this:
np:hasAssertion
dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_assertion
;
np:hasProvenance
dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_provenance
;
np:hasPublicationInfo
dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_assertion
a
np:Assertion
.
dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_provenance
a
np:Provenance
.
dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_assertion
{
miriam-gene:9241
a
ncit:C16612
.
lld:C1861385
a
ncit:C7057
.
dgn-gda:DGNc68c0030d15cb81cc96b22cd5b6870ee
sio:SIO_000628
miriam-gene:9241
,
lld:C1861385
;
a
sio:SIO_001122
.
}
dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_provenance
{
dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_assertion
dcterms:description
"[In a subset of ROR2-negative patients with BDB, clinically defined by the additional occurrence of proximal symphalangism and carpal synostosis, we identified six different point mutations (P35A, P35S, A36P, E48K, R167G, and P187S) in the bone morphogenetic protein (BMP) antagonist NOGGIN (NOG).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:17668388
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:00+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" .
}