@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP424539.RA9DQtl6D5cx_2s_D4Q5MZkuDr0IH49_8rt6XjvNBzOLs
> .
@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:NP424539.RA9DQtl6D5cx_2s_D4Q5MZkuDr0IH49_8rt6XjvNBzOLs130_head
{
this:
np:hasAssertion
dgn-np:NP424539.RA9DQtl6D5cx_2s_D4Q5MZkuDr0IH49_8rt6XjvNBzOLs130_assertion
;
np:hasProvenance
dgn-np:NP424539.RA9DQtl6D5cx_2s_D4Q5MZkuDr0IH49_8rt6XjvNBzOLs130_provenance
;
np:hasPublicationInfo
dgn-np:NP424539.RA9DQtl6D5cx_2s_D4Q5MZkuDr0IH49_8rt6XjvNBzOLs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP424539.RA9DQtl6D5cx_2s_D4Q5MZkuDr0IH49_8rt6XjvNBzOLs130_assertion
a
np:Assertion
.
dgn-np:NP424539.RA9DQtl6D5cx_2s_D4Q5MZkuDr0IH49_8rt6XjvNBzOLs130_provenance
a
np:Provenance
.
dgn-np:NP424539.RA9DQtl6D5cx_2s_D4Q5MZkuDr0IH49_8rt6XjvNBzOLs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP424539.RA9DQtl6D5cx_2s_D4Q5MZkuDr0IH49_8rt6XjvNBzOLs130_assertion
{
miriam-gene:3549
a
ncit:C16612
.
lld:C0013336
a
ncit:C7057
.
dgn-gda:DGN7b66d35e316f5a4a8b157d1f64d1d843
sio:SIO_000628
miriam-gene:3549
,
lld:C0013336
;
a
sio:SIO_001121
.
}
dgn-np:NP424539.RA9DQtl6D5cx_2s_D4Q5MZkuDr0IH49_8rt6XjvNBzOLs130_provenance
{
dgn-np:NP424539.RA9DQtl6D5cx_2s_D4Q5MZkuDr0IH49_8rt6XjvNBzOLs130_assertion
dcterms:description
"[Brachydactyly A1 (BDA1) is an autosomal dominant disorder characterized by shortness of all middle phalanges of the hands and toes, shortness of the proximal phalanges of the first digit, and short stature.]. 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:20683927
;
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:NP424539.RA9DQtl6D5cx_2s_D4Q5MZkuDr0IH49_8rt6XjvNBzOLs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:12+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" .
}