@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA
> .
@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:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_head
{
this:
np:hasAssertion
dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_assertion
;
np:hasProvenance
dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_provenance
;
np:hasPublicationInfo
dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_assertion
a
np:Assertion
.
dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_provenance
a
np:Provenance
.
dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_assertion
{
miriam-gene:3549
a
ncit:C16612
.
lld:C0221357
a
ncit:C7057
.
dgn-gda:DGN4ae14bdbe8612698e33e97a0097d2fd2
sio:SIO_000628
miriam-gene:3549
,
lld:C0221357
;
a
sio:SIO_001121
.
}
dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_provenance
{
dgn-np:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_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-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:NP830611.RAiWc4CtIIS-tsDhEnNJDamXv5mvpsqQlYy4kz6lyMZFA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:01+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" .
}