@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP708251.RAwFE3ze8suN9fdBHxza11ge0huBR5DpAwo65PPN2_mQU
> .
@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:NP708251.RAwFE3ze8suN9fdBHxza11ge0huBR5DpAwo65PPN2_mQU130_head
{
this:
np:hasAssertion
dgn-np:NP708251.RAwFE3ze8suN9fdBHxza11ge0huBR5DpAwo65PPN2_mQU130_assertion
;
np:hasProvenance
dgn-np:NP708251.RAwFE3ze8suN9fdBHxza11ge0huBR5DpAwo65PPN2_mQU130_provenance
;
np:hasPublicationInfo
dgn-np:NP708251.RAwFE3ze8suN9fdBHxza11ge0huBR5DpAwo65PPN2_mQU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP708251.RAwFE3ze8suN9fdBHxza11ge0huBR5DpAwo65PPN2_mQU130_assertion
a
np:Assertion
.
dgn-np:NP708251.RAwFE3ze8suN9fdBHxza11ge0huBR5DpAwo65PPN2_mQU130_provenance
a
np:Provenance
.
dgn-np:NP708251.RAwFE3ze8suN9fdBHxza11ge0huBR5DpAwo65PPN2_mQU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP708251.RAwFE3ze8suN9fdBHxza11ge0huBR5DpAwo65PPN2_mQU130_assertion
{
miriam-gene:2624
a
ncit:C16612
.
lld:C0024236
a
ncit:C7057
.
dgn-gda:DGN49b19cd2f9c5e205a4acaa927bbec4af
sio:SIO_000628
miriam-gene:2624
,
lld:C0024236
;
a
sio:SIO_001121
.
}
dgn-np:NP708251.RAwFE3ze8suN9fdBHxza11ge0huBR5DpAwo65PPN2_mQU130_provenance
{
dgn-np:NP708251.RAwFE3ze8suN9fdBHxza11ge0huBR5DpAwo65PPN2_mQU130_assertion
dcterms:description
"[Our data expand the phenotypes associated with germline GATA2 mutations to include predisposition to primary lymphedema and suggest that complete haploinsufficiency or loss of function of GATA2, rather than missense mutations, is the key predisposing factor for lymphedema onset.]. 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:22147895
;
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:NP708251.RAwFE3ze8suN9fdBHxza11ge0huBR5DpAwo65PPN2_mQU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:10+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" .
}