@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP9900.RAFOPAkSJaiuRdzAzPgN6UTJBCMo5hod5RZCft_OfxEZ8
> .
@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:NP9900.RAFOPAkSJaiuRdzAzPgN6UTJBCMo5hod5RZCft_OfxEZ8130_head
{
this:
np:hasAssertion
dgn-np:NP9900.RAFOPAkSJaiuRdzAzPgN6UTJBCMo5hod5RZCft_OfxEZ8130_assertion
;
np:hasProvenance
dgn-np:NP9900.RAFOPAkSJaiuRdzAzPgN6UTJBCMo5hod5RZCft_OfxEZ8130_provenance
;
np:hasPublicationInfo
dgn-np:NP9900.RAFOPAkSJaiuRdzAzPgN6UTJBCMo5hod5RZCft_OfxEZ8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP9900.RAFOPAkSJaiuRdzAzPgN6UTJBCMo5hod5RZCft_OfxEZ8130_assertion
a
np:Assertion
.
dgn-np:NP9900.RAFOPAkSJaiuRdzAzPgN6UTJBCMo5hod5RZCft_OfxEZ8130_provenance
a
np:Provenance
.
dgn-np:NP9900.RAFOPAkSJaiuRdzAzPgN6UTJBCMo5hod5RZCft_OfxEZ8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP9900.RAFOPAkSJaiuRdzAzPgN6UTJBCMo5hod5RZCft_OfxEZ8130_assertion
{
miriam-gene:9759
a
ncit:C16612
.
lld:C1838126
a
ncit:C7057
.
dgn-gda:DGN85870cb51047359eb551abc6b239a371
sio:SIO_000628
miriam-gene:9759
,
lld:C1838126
;
a
sio:SIO_001121
.
}
dgn-np:NP9900.RAFOPAkSJaiuRdzAzPgN6UTJBCMo5hod5RZCft_OfxEZ8130_provenance
{
dgn-np:NP9900.RAFOPAkSJaiuRdzAzPgN6UTJBCMo5hod5RZCft_OfxEZ8130_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_curated
;
sio:SIO_000772
miriam-pubmed:20691407
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP9900.RAFOPAkSJaiuRdzAzPgN6UTJBCMo5hod5RZCft_OfxEZ8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:02+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" .
}