@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP269831.RAezAAaXZeLWB7T3UcTNrl06Ij7i0n5AC7gzAYbh0jZeQ
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP269831.RAezAAaXZeLWB7T3UcTNrl06Ij7i0n5AC7gzAYbh0jZeQ130_head
{
this:
np:hasAssertion
dgn-np:NP269831.RAezAAaXZeLWB7T3UcTNrl06Ij7i0n5AC7gzAYbh0jZeQ130_assertion
;
np:hasProvenance
dgn-np:NP269831.RAezAAaXZeLWB7T3UcTNrl06Ij7i0n5AC7gzAYbh0jZeQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP269831.RAezAAaXZeLWB7T3UcTNrl06Ij7i0n5AC7gzAYbh0jZeQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP269831.RAezAAaXZeLWB7T3UcTNrl06Ij7i0n5AC7gzAYbh0jZeQ130_assertion
a
np:Assertion
.
dgn-np:NP269831.RAezAAaXZeLWB7T3UcTNrl06Ij7i0n5AC7gzAYbh0jZeQ130_provenance
a
np:Provenance
.
dgn-np:NP269831.RAezAAaXZeLWB7T3UcTNrl06Ij7i0n5AC7gzAYbh0jZeQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP269831.RAezAAaXZeLWB7T3UcTNrl06Ij7i0n5AC7gzAYbh0jZeQ130_assertion
{
miriam-gene:657
a
ncit:C16612
.
lld:C0345893
a
ncit:C7057
.
dgn-gda:DGN55aabb331bc937c4db19d579aa0a686f
sio:SIO_000628
miriam-gene:657
,
lld:C0345893
;
a
sio:SIO_001121
.
}
dgn-np:NP269831.RAezAAaXZeLWB7T3UcTNrl06Ij7i0n5AC7gzAYbh0jZeQ130_provenance
{
dgn-np:NP269831.RAezAAaXZeLWB7T3UcTNrl06Ij7i0n5AC7gzAYbh0jZeQ130_assertion
dcterms:description
"[Bone morphogenetic protein (BMP) receptor type 1A (BMPR1A) mutations are associated with facial dysmorphism, which is one of the main clinical signs in both juvenile polyposis and chromosome 10q23 deletion syndromes.]. 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:22773757
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP269831.RAezAAaXZeLWB7T3UcTNrl06Ij7i0n5AC7gzAYbh0jZeQ130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:13+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}