@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP584228.RAyG4x1soYZc6GwtcdCpoL2SCzFKfZ6pFNk3JSE46byE8
> .
@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:NP584228.RAyG4x1soYZc6GwtcdCpoL2SCzFKfZ6pFNk3JSE46byE8130_head
{
this:
np:hasAssertion
dgn-np:NP584228.RAyG4x1soYZc6GwtcdCpoL2SCzFKfZ6pFNk3JSE46byE8130_assertion
;
np:hasProvenance
dgn-np:NP584228.RAyG4x1soYZc6GwtcdCpoL2SCzFKfZ6pFNk3JSE46byE8130_provenance
;
np:hasPublicationInfo
dgn-np:NP584228.RAyG4x1soYZc6GwtcdCpoL2SCzFKfZ6pFNk3JSE46byE8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP584228.RAyG4x1soYZc6GwtcdCpoL2SCzFKfZ6pFNk3JSE46byE8130_assertion
a
np:Assertion
.
dgn-np:NP584228.RAyG4x1soYZc6GwtcdCpoL2SCzFKfZ6pFNk3JSE46byE8130_provenance
a
np:Provenance
.
dgn-np:NP584228.RAyG4x1soYZc6GwtcdCpoL2SCzFKfZ6pFNk3JSE46byE8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP584228.RAyG4x1soYZc6GwtcdCpoL2SCzFKfZ6pFNk3JSE46byE8130_assertion
{
miriam-gene:140821
a
ncit:C16612
.
lld:C0175693
a
ncit:C7057
.
dgn-gda:DGNc23c8e58c239f0259c9e36a73af5fdc0
sio:SIO_000628
miriam-gene:140821
,
lld:C0175693
;
a
sio:SIO_001121
.
}
dgn-np:NP584228.RAyG4x1soYZc6GwtcdCpoL2SCzFKfZ6pFNk3JSE46byE8130_provenance
{
dgn-np:NP584228.RAyG4x1soYZc6GwtcdCpoL2SCzFKfZ6pFNk3JSE46byE8130_assertion
dcterms:description
"[SRS is listed in Mendelian Inheritance in Man as an autosomal dominant disorder because most described cases have been of sporadic occurrence, and most likely were caused by de novo autosomal dominant mutation, and because families with apparent dominant transmission of a SRS phenotype have been described.]. 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:15523618
;
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:NP584228.RAyG4x1soYZc6GwtcdCpoL2SCzFKfZ6pFNk3JSE46byE8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:52+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" .
}