@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP5184.RAlz16I5haC1sHzTcjukLhrH-iJNncCTdrtqPpfSKxA5o
> .
@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/v3.0.0/void/
> .
dgn-np:NP5184.RAlz16I5haC1sHzTcjukLhrH-iJNncCTdrtqPpfSKxA5o130_head
{
this:
np:hasAssertion
dgn-np:NP5184.RAlz16I5haC1sHzTcjukLhrH-iJNncCTdrtqPpfSKxA5o130_assertion
;
np:hasProvenance
dgn-np:NP5184.RAlz16I5haC1sHzTcjukLhrH-iJNncCTdrtqPpfSKxA5o130_provenance
;
np:hasPublicationInfo
dgn-np:NP5184.RAlz16I5haC1sHzTcjukLhrH-iJNncCTdrtqPpfSKxA5o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP5184.RAlz16I5haC1sHzTcjukLhrH-iJNncCTdrtqPpfSKxA5o130_assertion
a
np:Assertion
.
dgn-np:NP5184.RAlz16I5haC1sHzTcjukLhrH-iJNncCTdrtqPpfSKxA5o130_provenance
a
np:Provenance
.
dgn-np:NP5184.RAlz16I5haC1sHzTcjukLhrH-iJNncCTdrtqPpfSKxA5o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP5184.RAlz16I5haC1sHzTcjukLhrH-iJNncCTdrtqPpfSKxA5o130_assertion
{
miriam-gene:29914
a
ncit:C16612
.
lld:C0271287
a
ncit:C7057
.
dgn-gda:DGN71c099c444c7dbd11bac781fd3b19156
sio:SIO_000628
miriam-gene:29914
,
lld:C0271287
;
a
sio:SIO_001122
.
}
dgn-np:NP5184.RAlz16I5haC1sHzTcjukLhrH-iJNncCTdrtqPpfSKxA5o130_provenance
{
dgn-np:NP5184.RAlz16I5haC1sHzTcjukLhrH-iJNncCTdrtqPpfSKxA5o130_assertion
dcterms:description
"[Schnyder corneal dystrophy (SCD) is an autosomal dominant disease characterized by germline variants in UBIAD1 introducing missense alterations leading to deposition of cholesterol in the cornea, progressive opacification, and loss of visual acuity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:23169578
;
prov:wasDerivedFrom
dgn-void:uniprot-20150221
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
}
dgn-np:NP5184.RAlz16I5haC1sHzTcjukLhrH-iJNncCTdrtqPpfSKxA5o130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:37:44+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}