@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP487029.RARut3_jwgBwGHYxPJbuOzMAmb47TVkcZtigS9ISFPF3o
> .
@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/v3.0.0/void/
> .
dgn-np:NP487029.RARut3_jwgBwGHYxPJbuOzMAmb47TVkcZtigS9ISFPF3o130_head
{
this:
np:hasAssertion
dgn-np:NP487029.RARut3_jwgBwGHYxPJbuOzMAmb47TVkcZtigS9ISFPF3o130_assertion
;
np:hasProvenance
dgn-np:NP487029.RARut3_jwgBwGHYxPJbuOzMAmb47TVkcZtigS9ISFPF3o130_provenance
;
np:hasPublicationInfo
dgn-np:NP487029.RARut3_jwgBwGHYxPJbuOzMAmb47TVkcZtigS9ISFPF3o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP487029.RARut3_jwgBwGHYxPJbuOzMAmb47TVkcZtigS9ISFPF3o130_assertion
a
np:Assertion
.
dgn-np:NP487029.RARut3_jwgBwGHYxPJbuOzMAmb47TVkcZtigS9ISFPF3o130_provenance
a
np:Provenance
.
dgn-np:NP487029.RARut3_jwgBwGHYxPJbuOzMAmb47TVkcZtigS9ISFPF3o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP487029.RARut3_jwgBwGHYxPJbuOzMAmb47TVkcZtigS9ISFPF3o130_assertion
{
miriam-gene:3547
a
ncit:C16612
.
lld:C0033377
a
ncit:C7057
.
dgn-gda:DGNc10f16da4586c0b4986ce43eaa3562f0
sio:SIO_000628
miriam-gene:3547
,
lld:C0033377
;
a
sio:SIO_001121
.
}
dgn-np:NP487029.RARut3_jwgBwGHYxPJbuOzMAmb47TVkcZtigS9ISFPF3o130_provenance
{
dgn-np:NP487029.RARut3_jwgBwGHYxPJbuOzMAmb47TVkcZtigS9ISFPF3o130_assertion
dcterms:description
"[Comparison of the gene content of the individual duplications with the respective phenotypes suggested three critical regions with candidate genes (AIFM1, RAB33A, GPC3 and IGSF1) for the common phenotypes, including candidate loci for congenital bilateral ptosis, small head circumference, short stature, genital and digital defects.]. 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:24326587
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP487029.RARut3_jwgBwGHYxPJbuOzMAmb47TVkcZtigS9ISFPF3o130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:42:27+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}