@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1211845.RAN7euOMkgfWw6xbfN1BeZjplYdWgwVe53XBKbbxbypSI
> .
@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/v4.0.0/void/
> .
dgn-np:NP1211845.RAN7euOMkgfWw6xbfN1BeZjplYdWgwVe53XBKbbxbypSI130_head
{
this:
np:hasAssertion
dgn-np:NP1211845.RAN7euOMkgfWw6xbfN1BeZjplYdWgwVe53XBKbbxbypSI130_assertion
;
np:hasProvenance
dgn-np:NP1211845.RAN7euOMkgfWw6xbfN1BeZjplYdWgwVe53XBKbbxbypSI130_provenance
;
np:hasPublicationInfo
dgn-np:NP1211845.RAN7euOMkgfWw6xbfN1BeZjplYdWgwVe53XBKbbxbypSI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1211845.RAN7euOMkgfWw6xbfN1BeZjplYdWgwVe53XBKbbxbypSI130_assertion
a
np:Assertion
.
dgn-np:NP1211845.RAN7euOMkgfWw6xbfN1BeZjplYdWgwVe53XBKbbxbypSI130_provenance
a
np:Provenance
.
dgn-np:NP1211845.RAN7euOMkgfWw6xbfN1BeZjplYdWgwVe53XBKbbxbypSI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1211845.RAN7euOMkgfWw6xbfN1BeZjplYdWgwVe53XBKbbxbypSI130_assertion
{
miriam-gene:90
a
ncit:C16612
.
lld:C0016037
a
ncit:C7057
.
dgn-gda:DGNcaee83ec3a7515466b54576994b8d230
sio:SIO_000628
miriam-gene:90
,
lld:C0016037
;
a
sio:SIO_001121
.
}
dgn-np:NP1211845.RAN7euOMkgfWw6xbfN1BeZjplYdWgwVe53XBKbbxbypSI130_provenance
{
dgn-np:NP1211845.RAN7euOMkgfWw6xbfN1BeZjplYdWgwVe53XBKbbxbypSI130_assertion
dcterms:description
"[This gene encodes the type I bone morphogenic protein receptor ALK2, with the residues affected identical to those that, when mutated in the germline, give rise to the congenital malformation syndrome fibrodysplasia ossificans progressiva (FOP), resulting in the transformation of soft tissue into bone.]. 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:25136070
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1211845.RAN7euOMkgfWw6xbfN1BeZjplYdWgwVe53XBKbbxbypSI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:55+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}