@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP679974.RAlGPOrGBp16KZ2zLGDlp5G1IltC8ZaBPHtJbkygwnkxs
> .
@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:NP679974.RAlGPOrGBp16KZ2zLGDlp5G1IltC8ZaBPHtJbkygwnkxs130_head
{
this:
np:hasAssertion
dgn-np:NP679974.RAlGPOrGBp16KZ2zLGDlp5G1IltC8ZaBPHtJbkygwnkxs130_assertion
;
np:hasProvenance
dgn-np:NP679974.RAlGPOrGBp16KZ2zLGDlp5G1IltC8ZaBPHtJbkygwnkxs130_provenance
;
np:hasPublicationInfo
dgn-np:NP679974.RAlGPOrGBp16KZ2zLGDlp5G1IltC8ZaBPHtJbkygwnkxs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP679974.RAlGPOrGBp16KZ2zLGDlp5G1IltC8ZaBPHtJbkygwnkxs130_assertion
a
np:Assertion
.
dgn-np:NP679974.RAlGPOrGBp16KZ2zLGDlp5G1IltC8ZaBPHtJbkygwnkxs130_provenance
a
np:Provenance
.
dgn-np:NP679974.RAlGPOrGBp16KZ2zLGDlp5G1IltC8ZaBPHtJbkygwnkxs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP679974.RAlGPOrGBp16KZ2zLGDlp5G1IltC8ZaBPHtJbkygwnkxs130_assertion
{
miriam-gene:1302
a
ncit:C16612
.
lld:C0581883
a
ncit:C7057
.
dgn-gda:DGN045e27c1c7748c107af6276bf9d9abcc
sio:SIO_000628
miriam-gene:1302
,
lld:C0581883
;
a
sio:SIO_001121
.
}
dgn-np:NP679974.RAlGPOrGBp16KZ2zLGDlp5G1IltC8ZaBPHtJbkygwnkxs130_provenance
{
dgn-np:NP679974.RAlGPOrGBp16KZ2zLGDlp5G1IltC8ZaBPHtJbkygwnkxs130_assertion
dcterms:description
"[The mild phenotype is consistent with similar mutations in the COL11A2 gene seen in patients with nonocular Stickler syndrome and some patients with otospondylomegaepiphyseal dysplasia (OSMED), as well as in patients with a nonsyndromic form of deafness called DFNA13.]. 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:11668593
;
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:NP679974.RAlGPOrGBp16KZ2zLGDlp5G1IltC8ZaBPHtJbkygwnkxs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:50+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" .
}