@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP176266.RAMtUeqb9mNb5RwKwJPwWU383s9zbOK49PhKURrGsJf78
> .
@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:NP176266.RAMtUeqb9mNb5RwKwJPwWU383s9zbOK49PhKURrGsJf78130_head
{
this:
np:hasAssertion
dgn-np:NP176266.RAMtUeqb9mNb5RwKwJPwWU383s9zbOK49PhKURrGsJf78130_assertion
;
np:hasProvenance
dgn-np:NP176266.RAMtUeqb9mNb5RwKwJPwWU383s9zbOK49PhKURrGsJf78130_provenance
;
np:hasPublicationInfo
dgn-np:NP176266.RAMtUeqb9mNb5RwKwJPwWU383s9zbOK49PhKURrGsJf78130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP176266.RAMtUeqb9mNb5RwKwJPwWU383s9zbOK49PhKURrGsJf78130_assertion
a
np:Assertion
.
dgn-np:NP176266.RAMtUeqb9mNb5RwKwJPwWU383s9zbOK49PhKURrGsJf78130_provenance
a
np:Provenance
.
dgn-np:NP176266.RAMtUeqb9mNb5RwKwJPwWU383s9zbOK49PhKURrGsJf78130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP176266.RAMtUeqb9mNb5RwKwJPwWU383s9zbOK49PhKURrGsJf78130_assertion
{
miriam-gene:2033
a
ncit:C16612
.
lld:C0035934
a
ncit:C7057
.
dgn-gda:DGN96feedaa1c15d325812c4684d642b807
sio:SIO_000628
miriam-gene:2033
,
lld:C0035934
;
a
sio:SIO_001121
.
}
dgn-np:NP176266.RAMtUeqb9mNb5RwKwJPwWU383s9zbOK49PhKURrGsJf78130_provenance
{
dgn-np:NP176266.RAMtUeqb9mNb5RwKwJPwWU383s9zbOK49PhKURrGsJf78130_assertion
dcterms:description
"[The Rubinstein-Taybi syndrome (RSTS, MIM 180849), a dominant Mendelian disorder with typical face, short stature, skeletal abnormalities, and mental retardation, is usually caused by heterozygous mutations of the CREBBP gene, but recently, EP300 gene mutations were reported in three individuals.]. 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:17299436
;
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:NP176266.RAMtUeqb9mNb5RwKwJPwWU383s9zbOK49PhKURrGsJf78130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:35+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" .
}