@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP515615.RAHBF0-bpeYOEkyr29qP7pDNo--AJZJZvF1SRQBEtcctM
> .
@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:NP515615.RAHBF0-bpeYOEkyr29qP7pDNo--AJZJZvF1SRQBEtcctM130_head
{
this:
np:hasAssertion
dgn-np:NP515615.RAHBF0-bpeYOEkyr29qP7pDNo--AJZJZvF1SRQBEtcctM130_assertion
;
np:hasProvenance
dgn-np:NP515615.RAHBF0-bpeYOEkyr29qP7pDNo--AJZJZvF1SRQBEtcctM130_provenance
;
np:hasPublicationInfo
dgn-np:NP515615.RAHBF0-bpeYOEkyr29qP7pDNo--AJZJZvF1SRQBEtcctM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP515615.RAHBF0-bpeYOEkyr29qP7pDNo--AJZJZvF1SRQBEtcctM130_assertion
a
np:Assertion
.
dgn-np:NP515615.RAHBF0-bpeYOEkyr29qP7pDNo--AJZJZvF1SRQBEtcctM130_provenance
a
np:Provenance
.
dgn-np:NP515615.RAHBF0-bpeYOEkyr29qP7pDNo--AJZJZvF1SRQBEtcctM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP515615.RAHBF0-bpeYOEkyr29qP7pDNo--AJZJZvF1SRQBEtcctM130_assertion
{
miriam-gene:2477
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGN6d63844d482cbdc441a7557df8cfae6b
sio:SIO_000628
miriam-gene:2477
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP515615.RAHBF0-bpeYOEkyr29qP7pDNo--AJZJZvF1SRQBEtcctM130_provenance
{
dgn-np:NP515615.RAHBF0-bpeYOEkyr29qP7pDNo--AJZJZvF1SRQBEtcctM130_assertion
dcterms:description
"[The FMR1 gene should be analyzed in patients with tall stature and mental retardation, and in these patients the NSD1 gene can be considered whenever some features of Sotos syndrome do exist.]. 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:16192740
;
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:NP515615.RAHBF0-bpeYOEkyr29qP7pDNo--AJZJZvF1SRQBEtcctM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:38+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" .
}