@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP239673.RA-GL5s54nL83132qk5cyX7mzQA6lU1dmYcW9pbEE04tQ
> .
@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:NP239673.RA-GL5s54nL83132qk5cyX7mzQA6lU1dmYcW9pbEE04tQ130_head
{
this:
np:hasAssertion
dgn-np:NP239673.RA-GL5s54nL83132qk5cyX7mzQA6lU1dmYcW9pbEE04tQ130_assertion
;
np:hasProvenance
dgn-np:NP239673.RA-GL5s54nL83132qk5cyX7mzQA6lU1dmYcW9pbEE04tQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP239673.RA-GL5s54nL83132qk5cyX7mzQA6lU1dmYcW9pbEE04tQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP239673.RA-GL5s54nL83132qk5cyX7mzQA6lU1dmYcW9pbEE04tQ130_assertion
a
np:Assertion
.
dgn-np:NP239673.RA-GL5s54nL83132qk5cyX7mzQA6lU1dmYcW9pbEE04tQ130_provenance
a
np:Provenance
.
dgn-np:NP239673.RA-GL5s54nL83132qk5cyX7mzQA6lU1dmYcW9pbEE04tQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP239673.RA-GL5s54nL83132qk5cyX7mzQA6lU1dmYcW9pbEE04tQ130_assertion
{
miriam-gene:9759
a
ncit:C16612
.
lld:C1838126
a
ncit:C7057
.
dgn-gda:DGN030b8d5569fd2827d2de19bb0ded1554
sio:SIO_000628
miriam-gene:9759
,
lld:C1838126
;
a
sio:SIO_001121
.
}
dgn-np:NP239673.RA-GL5s54nL83132qk5cyX7mzQA6lU1dmYcW9pbEE04tQ130_provenance
{
dgn-np:NP239673.RA-GL5s54nL83132qk5cyX7mzQA6lU1dmYcW9pbEE04tQ130_assertion
dcterms:description
"[Considering the known molecular function of HDAC4 and the mouse knockout phenotype, taken together with deletion or mutation of HDAC4 in multiple subjects with BDMR, we conclude that haploinsufficiency of HDAC4 results in brachydactyly mental retardation syndrome.]. 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:20691407
;
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:NP239673.RA-GL5s54nL83132qk5cyX7mzQA6lU1dmYcW9pbEE04tQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:14+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" .
}