@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1326236.RA3-rvF5kXaH2DoUDgPjp8Bfe8Bz02K2q0odlJit7GexM
> .
@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:NP1326236.RA3-rvF5kXaH2DoUDgPjp8Bfe8Bz02K2q0odlJit7GexM130_head
{
this:
np:hasAssertion
dgn-np:NP1326236.RA3-rvF5kXaH2DoUDgPjp8Bfe8Bz02K2q0odlJit7GexM130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP1326236.RA3-rvF5kXaH2DoUDgPjp8Bfe8Bz02K2q0odlJit7GexM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1326236.RA3-rvF5kXaH2DoUDgPjp8Bfe8Bz02K2q0odlJit7GexM130_assertion
a
np:Assertion
.
dgn-np:NP1326236.RA3-rvF5kXaH2DoUDgPjp8Bfe8Bz02K2q0odlJit7GexM130_provenance
a
np:Provenance
.
dgn-np:NP1326236.RA3-rvF5kXaH2DoUDgPjp8Bfe8Bz02K2q0odlJit7GexM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1326236.RA3-rvF5kXaH2DoUDgPjp8Bfe8Bz02K2q0odlJit7GexM130_assertion
{
miriam-gene:2006
a
ncit:C16612
.
lld:C0012236
a
ncit:C7057
.
dgn-gda:DGN520be655519169b0733403ebf461a152
sio:SIO_000628
miriam-gene:2006
,
lld:C0012236
;
a
sio:SIO_001121
.
}
dgn-np:NP1326236.RA3-rvF5kXaH2DoUDgPjp8Bfe8Bz02K2q0odlJit7GexM130_provenance
{
dgn-np:NP1326236.RA3-rvF5kXaH2DoUDgPjp8Bfe8Bz02K2q0odlJit7GexM130_assertion
dcterms:description
"[The relation between Marfan syndrome and fibrillin mutations and that between supravalvular aortic stenosis and William syndromes and elastin mutations are reviewed, as is the presence of microdeletions in 22q11 in DiGeorge syndrome, velocardiofacial syndrome, and nonsyndromic patients with conotruncal malformations.]. 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:7911041
;
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:NP1326236.RA3-rvF5kXaH2DoUDgPjp8Bfe8Bz02K2q0odlJit7GexM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:47+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" .
}