@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1017980.RAQP88tuXYk2akjgr-SRfPABUJadJhW2Wcp-I3hRvsFs0
> .
@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:NP1017980.RAQP88tuXYk2akjgr-SRfPABUJadJhW2Wcp-I3hRvsFs0130_head
{
this:
np:hasAssertion
dgn-np:NP1017980.RAQP88tuXYk2akjgr-SRfPABUJadJhW2Wcp-I3hRvsFs0130_assertion
;
np:hasProvenance
dgn-np:NP1017980.RAQP88tuXYk2akjgr-SRfPABUJadJhW2Wcp-I3hRvsFs0130_provenance
;
np:hasPublicationInfo
dgn-np:NP1017980.RAQP88tuXYk2akjgr-SRfPABUJadJhW2Wcp-I3hRvsFs0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1017980.RAQP88tuXYk2akjgr-SRfPABUJadJhW2Wcp-I3hRvsFs0130_assertion
a
np:Assertion
.
dgn-np:NP1017980.RAQP88tuXYk2akjgr-SRfPABUJadJhW2Wcp-I3hRvsFs0130_provenance
a
np:Provenance
.
dgn-np:NP1017980.RAQP88tuXYk2akjgr-SRfPABUJadJhW2Wcp-I3hRvsFs0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1017980.RAQP88tuXYk2akjgr-SRfPABUJadJhW2Wcp-I3hRvsFs0130_assertion
{
miriam-gene:224
a
ncit:C16612
.
lld:C0023882
a
ncit:C7057
.
dgn-gda:DGN386b8471bb2bc2e3a2fff69c9b739cac
sio:SIO_000628
miriam-gene:224
,
lld:C0023882
;
a
sio:SIO_001121
.
}
dgn-np:NP1017980.RAQP88tuXYk2akjgr-SRfPABUJadJhW2Wcp-I3hRvsFs0130_provenance
{
dgn-np:NP1017980.RAQP88tuXYk2akjgr-SRfPABUJadJhW2Wcp-I3hRvsFs0130_assertion
dcterms:description
"[Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/quadriplegia.]. 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:23034980
;
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:NP1017980.RAQP88tuXYk2akjgr-SRfPABUJadJhW2Wcp-I3hRvsFs0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:27+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" .
}