@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c
> .
@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:NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_head
{
this:
np:hasAssertion
dgn-np:NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_assertion
;
np:hasProvenance
dgn-np:NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_provenance
;
np:hasPublicationInfo
dgn-np:NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_assertion
a
np:Assertion
.
dgn-np:NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_provenance
a
np:Provenance
.
dgn-np:NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_assertion
{
miriam-gene:2201
a
ncit:C16612
.
lld:C0559260
a
ncit:C7057
.
dgn-gda:DGNfe9826f42a319592d20f720076dd39b2
sio:SIO_000628
miriam-gene:2201
,
lld:C0559260
;
a
sio:SIO_001121
.
}
dgn-np:NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_provenance
{
dgn-np:NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_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:NP789056.RA4eQYro5Defr_0frOaA1xglF2B1AnAh6azo47tRqk14c130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:01+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: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" .
}