@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP262564.RA0u38GXyzUDvlohYeuSe0m46T0E_V0ZywodAa0EDb1d8
> .
@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:NP262564.RA0u38GXyzUDvlohYeuSe0m46T0E_V0ZywodAa0EDb1d8130_head
{
this:
np:hasAssertion
dgn-np:NP262564.RA0u38GXyzUDvlohYeuSe0m46T0E_V0ZywodAa0EDb1d8130_assertion
;
np:hasProvenance
dgn-np:NP262564.RA0u38GXyzUDvlohYeuSe0m46T0E_V0ZywodAa0EDb1d8130_provenance
;
np:hasPublicationInfo
dgn-np:NP262564.RA0u38GXyzUDvlohYeuSe0m46T0E_V0ZywodAa0EDb1d8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP262564.RA0u38GXyzUDvlohYeuSe0m46T0E_V0ZywodAa0EDb1d8130_assertion
a
np:Assertion
.
dgn-np:NP262564.RA0u38GXyzUDvlohYeuSe0m46T0E_V0ZywodAa0EDb1d8130_provenance
a
np:Provenance
.
dgn-np:NP262564.RA0u38GXyzUDvlohYeuSe0m46T0E_V0ZywodAa0EDb1d8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP262564.RA0u38GXyzUDvlohYeuSe0m46T0E_V0ZywodAa0EDb1d8130_assertion
{
miriam-gene:2201
a
ncit:C16612
.
lld:C0024796
a
ncit:C7057
.
dgn-gda:DGN93a9d3723b2a86b953bc4ea424076e21
sio:SIO_000628
miriam-gene:2201
,
lld:C0024796
;
a
sio:SIO_001121
.
}
dgn-np:NP262564.RA0u38GXyzUDvlohYeuSe0m46T0E_V0ZywodAa0EDb1d8130_provenance
{
dgn-np:NP262564.RA0u38GXyzUDvlohYeuSe0m46T0E_V0ZywodAa0EDb1d8130_assertion
dcterms:description
"[Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically similar to Marfan syndrome (MFS) and characterized by arachnodactyly, dolichostenomelia, scoliosis, multiple congenital contractures and abnormalities of the external ears.]. 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:7493032
;
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:NP262564.RA0u38GXyzUDvlohYeuSe0m46T0E_V0ZywodAa0EDb1d8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:26+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" .
}