@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP717214.RApSLuhi3uFIWFbGlyZtzVEbubgrnQ9hUAGDXcho1QNKo
> .
@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:NP717214.RApSLuhi3uFIWFbGlyZtzVEbubgrnQ9hUAGDXcho1QNKo130_head
{
this:
np:hasAssertion
dgn-np:NP717214.RApSLuhi3uFIWFbGlyZtzVEbubgrnQ9hUAGDXcho1QNKo130_assertion
;
np:hasProvenance
dgn-np:NP717214.RApSLuhi3uFIWFbGlyZtzVEbubgrnQ9hUAGDXcho1QNKo130_provenance
;
np:hasPublicationInfo
dgn-np:NP717214.RApSLuhi3uFIWFbGlyZtzVEbubgrnQ9hUAGDXcho1QNKo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP717214.RApSLuhi3uFIWFbGlyZtzVEbubgrnQ9hUAGDXcho1QNKo130_assertion
a
np:Assertion
.
dgn-np:NP717214.RApSLuhi3uFIWFbGlyZtzVEbubgrnQ9hUAGDXcho1QNKo130_provenance
a
np:Provenance
.
dgn-np:NP717214.RApSLuhi3uFIWFbGlyZtzVEbubgrnQ9hUAGDXcho1QNKo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP717214.RApSLuhi3uFIWFbGlyZtzVEbubgrnQ9hUAGDXcho1QNKo130_assertion
{
miriam-gene:100529231
a
ncit:C16612
.
lld:C0036857
a
ncit:C7057
.
dgn-gda:DGN68d3acf1d1fbf69c22a6c3e1a0b7c032
sio:SIO_000628
miriam-gene:100529231
,
lld:C0036857
;
a
sio:SIO_001121
.
}
dgn-np:NP717214.RApSLuhi3uFIWFbGlyZtzVEbubgrnQ9hUAGDXcho1QNKo130_provenance
{
dgn-np:NP717214.RApSLuhi3uFIWFbGlyZtzVEbubgrnQ9hUAGDXcho1QNKo130_assertion
dcterms:description
"[The phenotype observed in the 8 affected males includes severe mental retardation (MR), lack of speech, coarse face, distinctive skeletal features with short stature, brachydactyly of fingers and toes, small downslanting palpebral fissures, large bulbous nose, hypoplastic ear lobe and macrostomia.]. 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:11562927
;
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:NP717214.RApSLuhi3uFIWFbGlyZtzVEbubgrnQ9hUAGDXcho1QNKo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:15+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" .
}