@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1238222.RAsv-t3Shwe4uRilA7cN9twhjcrYQfouLRCmO0ZY-rK9Y
> .
@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:NP1238222.RAsv-t3Shwe4uRilA7cN9twhjcrYQfouLRCmO0ZY-rK9Y130_head
{
this:
np:hasAssertion
dgn-np:NP1238222.RAsv-t3Shwe4uRilA7cN9twhjcrYQfouLRCmO0ZY-rK9Y130_assertion
;
np:hasProvenance
dgn-np:NP1238222.RAsv-t3Shwe4uRilA7cN9twhjcrYQfouLRCmO0ZY-rK9Y130_provenance
;
np:hasPublicationInfo
dgn-np:NP1238222.RAsv-t3Shwe4uRilA7cN9twhjcrYQfouLRCmO0ZY-rK9Y130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1238222.RAsv-t3Shwe4uRilA7cN9twhjcrYQfouLRCmO0ZY-rK9Y130_assertion
a
np:Assertion
.
dgn-np:NP1238222.RAsv-t3Shwe4uRilA7cN9twhjcrYQfouLRCmO0ZY-rK9Y130_provenance
a
np:Provenance
.
dgn-np:NP1238222.RAsv-t3Shwe4uRilA7cN9twhjcrYQfouLRCmO0ZY-rK9Y130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1238222.RAsv-t3Shwe4uRilA7cN9twhjcrYQfouLRCmO0ZY-rK9Y130_assertion
{
miriam-gene:6469
a
ncit:C16612
.
lld:C3714756
a
ncit:C7057
.
dgn-gda:DGNe83e0651eb8af8e7f9f645ae59367f7d
sio:SIO_000628
miriam-gene:6469
,
lld:C3714756
;
a
sio:SIO_001121
.
}
dgn-np:NP1238222.RAsv-t3Shwe4uRilA7cN9twhjcrYQfouLRCmO0ZY-rK9Y130_provenance
{
dgn-np:NP1238222.RAsv-t3Shwe4uRilA7cN9twhjcrYQfouLRCmO0ZY-rK9Y130_assertion
dcterms:description
"[ZNF589 belongs to KRAB-domain zinc-finger proteins previously implicated in ID, HHAT is predicted to affect sonic hedgehog, which is involved in several disorders with ID, KMT2B associated with syndromic ID fits the epigenetic module underlying the Kleefstra syndromic spectrum.]. 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:25405613
;
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:NP1238222.RAsv-t3Shwe4uRilA7cN9twhjcrYQfouLRCmO0ZY-rK9Y130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:07+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" .
}