@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP204011.RArlLdfSCWz0ao8MjRtCw0WaBzYF0l-O9FpfOptNcKotI
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP204011.RArlLdfSCWz0ao8MjRtCw0WaBzYF0l-O9FpfOptNcKotI130_head
{
this:
np:hasAssertion
dgn-np:NP204011.RArlLdfSCWz0ao8MjRtCw0WaBzYF0l-O9FpfOptNcKotI130_assertion
;
np:hasProvenance
dgn-np:NP204011.RArlLdfSCWz0ao8MjRtCw0WaBzYF0l-O9FpfOptNcKotI130_provenance
;
np:hasPublicationInfo
dgn-np:NP204011.RArlLdfSCWz0ao8MjRtCw0WaBzYF0l-O9FpfOptNcKotI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP204011.RArlLdfSCWz0ao8MjRtCw0WaBzYF0l-O9FpfOptNcKotI130_assertion
a
np:Assertion
.
dgn-np:NP204011.RArlLdfSCWz0ao8MjRtCw0WaBzYF0l-O9FpfOptNcKotI130_provenance
a
np:Provenance
.
dgn-np:NP204011.RArlLdfSCWz0ao8MjRtCw0WaBzYF0l-O9FpfOptNcKotI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP204011.RArlLdfSCWz0ao8MjRtCw0WaBzYF0l-O9FpfOptNcKotI130_assertion
{
miriam-gene:7003
a
ncit:C16612
.
lld:C0333641
a
ncit:C7057
.
dgn-gda:DGNa160af7c50e5c355fcfba0fd4f450833
sio:SIO_000628
miriam-gene:7003
,
lld:C0333641
;
a
sio:SIO_001122
.
}
dgn-np:NP204011.RArlLdfSCWz0ao8MjRtCw0WaBzYF0l-O9FpfOptNcKotI130_provenance
{
dgn-np:NP204011.RArlLdfSCWz0ao8MjRtCw0WaBzYF0l-O9FpfOptNcKotI130_assertion
dcterms:description
"[A missense mutation (Y421H) in TEAD1 is tightly linked to Sveinsson's chorioretinal atrophy (SCRA), an autosomal dominant eye disease characterized by symmetrical lesions radiating from the optic disc involving the retina and the choroid.]. 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:15016762
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP204011.RArlLdfSCWz0ao8MjRtCw0WaBzYF0l-O9FpfOptNcKotI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:19+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}