@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP927550.RA0-_7nAWEQfpJYxk8aJQTjh_VsoA6bPklvnfp4Z6y1e8
> .
@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:NP927550.RA0-_7nAWEQfpJYxk8aJQTjh_VsoA6bPklvnfp4Z6y1e8130_head
{
this:
np:hasAssertion
dgn-np:NP927550.RA0-_7nAWEQfpJYxk8aJQTjh_VsoA6bPklvnfp4Z6y1e8130_assertion
;
np:hasProvenance
dgn-np:NP927550.RA0-_7nAWEQfpJYxk8aJQTjh_VsoA6bPklvnfp4Z6y1e8130_provenance
;
np:hasPublicationInfo
dgn-np:NP927550.RA0-_7nAWEQfpJYxk8aJQTjh_VsoA6bPklvnfp4Z6y1e8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP927550.RA0-_7nAWEQfpJYxk8aJQTjh_VsoA6bPklvnfp4Z6y1e8130_assertion
a
np:Assertion
.
dgn-np:NP927550.RA0-_7nAWEQfpJYxk8aJQTjh_VsoA6bPklvnfp4Z6y1e8130_provenance
a
np:Provenance
.
dgn-np:NP927550.RA0-_7nAWEQfpJYxk8aJQTjh_VsoA6bPklvnfp4Z6y1e8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP927550.RA0-_7nAWEQfpJYxk8aJQTjh_VsoA6bPklvnfp4Z6y1e8130_assertion
{
miriam-gene:1797
a
ncit:C16612
.
lld:C0013336
a
ncit:C7057
.
dgn-gda:DGN91f8fa22286c819323288ea3563b6161
sio:SIO_000628
miriam-gene:1797
,
lld:C0013336
;
a
sio:SIO_001121
.
}
dgn-np:NP927550.RA0-_7nAWEQfpJYxk8aJQTjh_VsoA6bPklvnfp4Z6y1e8130_provenance
{
dgn-np:NP927550.RA0-_7nAWEQfpJYxk8aJQTjh_VsoA6bPklvnfp4Z6y1e8130_assertion
dcterms:description
"[Haploinsufficiency of one of them, RAI1, seems to be responsible for the neurobehavioural, craniofacial and otolaryngological features of the syndrome, but not for short stature, commonly seen in SMS patients with chromosome deletion, implying the role of other genes in the 17p11.2 region.]. 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:15138811
;
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:NP927550.RA0-_7nAWEQfpJYxk8aJQTjh_VsoA6bPklvnfp4Z6y1e8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:29+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" .
}