@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1236976.RAUkoQMhvgdb2xwXMwmwgxgIj94o6TrSZcjrQTzZDXEFU
> .
@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:NP1236976.RAUkoQMhvgdb2xwXMwmwgxgIj94o6TrSZcjrQTzZDXEFU130_head
{
this:
np:hasAssertion
dgn-np:NP1236976.RAUkoQMhvgdb2xwXMwmwgxgIj94o6TrSZcjrQTzZDXEFU130_assertion
;
np:hasProvenance
dgn-np:NP1236976.RAUkoQMhvgdb2xwXMwmwgxgIj94o6TrSZcjrQTzZDXEFU130_provenance
;
np:hasPublicationInfo
dgn-np:NP1236976.RAUkoQMhvgdb2xwXMwmwgxgIj94o6TrSZcjrQTzZDXEFU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1236976.RAUkoQMhvgdb2xwXMwmwgxgIj94o6TrSZcjrQTzZDXEFU130_assertion
a
np:Assertion
.
dgn-np:NP1236976.RAUkoQMhvgdb2xwXMwmwgxgIj94o6TrSZcjrQTzZDXEFU130_provenance
a
np:Provenance
.
dgn-np:NP1236976.RAUkoQMhvgdb2xwXMwmwgxgIj94o6TrSZcjrQTzZDXEFU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1236976.RAUkoQMhvgdb2xwXMwmwgxgIj94o6TrSZcjrQTzZDXEFU130_assertion
{
miriam-gene:9241
a
ncit:C16612
.
lld:C1866656
a
ncit:C7057
.
dgn-gda:DGN57aba2493ca9b0d3a25b681e7213eddb
sio:SIO_000628
miriam-gene:9241
,
lld:C1866656
;
a
sio:SIO_001121
.
}
dgn-np:NP1236976.RAUkoQMhvgdb2xwXMwmwgxgIj94o6TrSZcjrQTzZDXEFU130_provenance
{
dgn-np:NP1236976.RAUkoQMhvgdb2xwXMwmwgxgIj94o6TrSZcjrQTzZDXEFU130_assertion
dcterms:description
"[In this study, we describe three unrelated Japanese patients with hearing loss and symphalangism who were diagnosed with proximal symphalangism (SYM1), atypical multiple synostosis syndrome (atypical SYNS1) and stapes ankylosis with broad thumb and toes (SABTT), respectively, based on the clinical features.]. 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:25391606
;
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:NP1236976.RAUkoQMhvgdb2xwXMwmwgxgIj94o6TrSZcjrQTzZDXEFU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:06+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" .
}