@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A
> .
@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:NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_head
{
this:
np:hasAssertion
dgn-np:NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_assertion
;
np:hasProvenance
dgn-np:NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_provenance
;
np:hasPublicationInfo
dgn-np:NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_assertion
a
np:Assertion
.
dgn-np:NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_provenance
a
np:Provenance
.
dgn-np:NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_assertion
{
miriam-gene:4488
a
ncit:C16612
.
lld:C1858160
a
ncit:C7057
.
dgn-gda:DGNf0f446c33163eed321b3b116e2f5cd3d
sio:SIO_000628
miriam-gene:4488
,
lld:C1858160
;
a
sio:SIO_001121
.
}
dgn-np:NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_provenance
{
dgn-np:NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_assertion
dcterms:description
"[This implies that Boston type craniosynostosis and FPP are allelic variants of the same gene, with FPP caused by loss of MSX2 function and craniosynostosis Boston type due to gain of MSX2 function.]. 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:10767351
;
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:NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:53+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" .
}