@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP854650.RAKUVd8I9XlS0BchUm6cJWSPN2CgXo4TCxkaZu8trUimE
> .
@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:NP854650.RAKUVd8I9XlS0BchUm6cJWSPN2CgXo4TCxkaZu8trUimE130_head
{
this:
np:hasAssertion
dgn-np:NP854650.RAKUVd8I9XlS0BchUm6cJWSPN2CgXo4TCxkaZu8trUimE130_assertion
;
np:hasProvenance
dgn-np:NP854650.RAKUVd8I9XlS0BchUm6cJWSPN2CgXo4TCxkaZu8trUimE130_provenance
;
np:hasPublicationInfo
dgn-np:NP854650.RAKUVd8I9XlS0BchUm6cJWSPN2CgXo4TCxkaZu8trUimE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP854650.RAKUVd8I9XlS0BchUm6cJWSPN2CgXo4TCxkaZu8trUimE130_assertion
a
np:Assertion
.
dgn-np:NP854650.RAKUVd8I9XlS0BchUm6cJWSPN2CgXo4TCxkaZu8trUimE130_provenance
a
np:Provenance
.
dgn-np:NP854650.RAKUVd8I9XlS0BchUm6cJWSPN2CgXo4TCxkaZu8trUimE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP854650.RAKUVd8I9XlS0BchUm6cJWSPN2CgXo4TCxkaZu8trUimE130_assertion
{
miriam-gene:1913
a
ncit:C16612
.
lld:C2931019
a
ncit:C7057
.
dgn-gda:DGN9408617ead49093a7f3ad3ca1917af62
sio:SIO_000628
miriam-gene:1913
,
lld:C2931019
;
a
sio:SIO_001121
.
}
dgn-np:NP854650.RAKUVd8I9XlS0BchUm6cJWSPN2CgXo4TCxkaZu8trUimE130_provenance
{
dgn-np:NP854650.RAKUVd8I9XlS0BchUm6cJWSPN2CgXo4TCxkaZu8trUimE130_assertion
dcterms:description
"[These complex patients included those with single gene disorders in which SHFM has been reported (e.g., ectodermal dysplasia Ectrodactyly Clefting (EEC), tibial aplasia with SHFM, fibular aplasia with SHFM), as well as those with other recognized or unknown patterns of anomalies.]. 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:16673359
;
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:NP854650.RAKUVd8I9XlS0BchUm6cJWSPN2CgXo4TCxkaZu8trUimE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:42+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" .
}