@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP267042.RASUaKMNpeL5EavoBTECDIKjVWOp3EyONJOrnB4eOzVsM
> .
@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:NP267042.RASUaKMNpeL5EavoBTECDIKjVWOp3EyONJOrnB4eOzVsM130_head
{
this:
np:hasAssertion
dgn-np:NP267042.RASUaKMNpeL5EavoBTECDIKjVWOp3EyONJOrnB4eOzVsM130_assertion
;
np:hasProvenance
dgn-np:NP267042.RASUaKMNpeL5EavoBTECDIKjVWOp3EyONJOrnB4eOzVsM130_provenance
;
np:hasPublicationInfo
dgn-np:NP267042.RASUaKMNpeL5EavoBTECDIKjVWOp3EyONJOrnB4eOzVsM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP267042.RASUaKMNpeL5EavoBTECDIKjVWOp3EyONJOrnB4eOzVsM130_assertion
a
np:Assertion
.
dgn-np:NP267042.RASUaKMNpeL5EavoBTECDIKjVWOp3EyONJOrnB4eOzVsM130_provenance
a
np:Provenance
.
dgn-np:NP267042.RASUaKMNpeL5EavoBTECDIKjVWOp3EyONJOrnB4eOzVsM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP267042.RASUaKMNpeL5EavoBTECDIKjVWOp3EyONJOrnB4eOzVsM130_assertion
{
miriam-gene:2201
a
ncit:C16612
.
lld:C0700208
a
ncit:C7057
.
dgn-gda:DGN2eb4a15a009ecf9253a7a11c1fe654f5
sio:SIO_000628
miriam-gene:2201
,
lld:C0700208
;
a
sio:SIO_001121
.
}
dgn-np:NP267042.RASUaKMNpeL5EavoBTECDIKjVWOp3EyONJOrnB4eOzVsM130_provenance
{
dgn-np:NP267042.RASUaKMNpeL5EavoBTECDIKjVWOp3EyONJOrnB4eOzVsM130_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:NP267042.RASUaKMNpeL5EavoBTECDIKjVWOp3EyONJOrnB4eOzVsM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:29+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" .
}