@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP903100.RA_eYrrCQSG8End5v8UCitSQRlZ7tFZFVPmbowh16u3GY
> .
@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:NP903100.RA_eYrrCQSG8End5v8UCitSQRlZ7tFZFVPmbowh16u3GY130_head
{
this:
np:hasAssertion
dgn-np:NP903100.RA_eYrrCQSG8End5v8UCitSQRlZ7tFZFVPmbowh16u3GY130_assertion
;
np:hasProvenance
dgn-np:NP903100.RA_eYrrCQSG8End5v8UCitSQRlZ7tFZFVPmbowh16u3GY130_provenance
;
np:hasPublicationInfo
dgn-np:NP903100.RA_eYrrCQSG8End5v8UCitSQRlZ7tFZFVPmbowh16u3GY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP903100.RA_eYrrCQSG8End5v8UCitSQRlZ7tFZFVPmbowh16u3GY130_assertion
a
np:Assertion
.
dgn-np:NP903100.RA_eYrrCQSG8End5v8UCitSQRlZ7tFZFVPmbowh16u3GY130_provenance
a
np:Provenance
.
dgn-np:NP903100.RA_eYrrCQSG8End5v8UCitSQRlZ7tFZFVPmbowh16u3GY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP903100.RA_eYrrCQSG8End5v8UCitSQRlZ7tFZFVPmbowh16u3GY130_assertion
{
miriam-gene:224
a
ncit:C16612
.
lld:C0037231
a
ncit:C7057
.
dgn-gda:DGNaf62bc4472cf513b38256c2c097f521c
sio:SIO_000628
miriam-gene:224
,
lld:C0037231
;
a
sio:SIO_001121
.
}
dgn-np:NP903100.RA_eYrrCQSG8End5v8UCitSQRlZ7tFZFVPmbowh16u3GY130_provenance
{
dgn-np:NP903100.RA_eYrrCQSG8End5v8UCitSQRlZ7tFZFVPmbowh16u3GY130_assertion
dcterms:description
"[Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid.]. 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:21684788
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP903100.RA_eYrrCQSG8End5v8UCitSQRlZ7tFZFVPmbowh16u3GY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:33+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" .
}