@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s
> .
@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:NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_head
{
this:
np:hasAssertion
dgn-np:NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_assertion
;
np:hasProvenance
dgn-np:NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_provenance
;
np:hasPublicationInfo
dgn-np:NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_assertion
a
np:Assertion
.
dgn-np:NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_provenance
a
np:Provenance
.
dgn-np:NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_assertion
{
miriam-gene:1836
a
ncit:C16612
.
lld:C1850554
a
ncit:C7057
.
dgn-gda:DGN24d596181155723cb2c66e4d33980e58
sio:SIO_000628
miriam-gene:1836
,
lld:C1850554
;
a
sio:SIO_001121
.
}
dgn-np:NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_provenance
{
dgn-np:NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_assertion
dcterms:description
"[Mutations in solute carrier family 26 (sulfate transporter), member 2 (SLC26A2) gene result in a spectrum of autosomal recessive chondrodysplasias that range from the mildest recessive form of multiple epiphysial dysplasia (rMED) through the most common diastrophic dysplasia (DTD) to lethal atelosteogenesis type II and achondrogenesis IB.]. 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:23840040
;
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:NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:01+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" .
}