@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP558926.RABRG8u1tNvNRsSJDDOUIiE5VNAwluYHRBs2TalVzJky8
> .
@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:NP558926.RABRG8u1tNvNRsSJDDOUIiE5VNAwluYHRBs2TalVzJky8130_head
{
this:
np:hasAssertion
dgn-np:NP558926.RABRG8u1tNvNRsSJDDOUIiE5VNAwluYHRBs2TalVzJky8130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP558926.RABRG8u1tNvNRsSJDDOUIiE5VNAwluYHRBs2TalVzJky8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP558926.RABRG8u1tNvNRsSJDDOUIiE5VNAwluYHRBs2TalVzJky8130_assertion
a
np:Assertion
.
dgn-np:NP558926.RABRG8u1tNvNRsSJDDOUIiE5VNAwluYHRBs2TalVzJky8130_provenance
a
np:Provenance
.
dgn-np:NP558926.RABRG8u1tNvNRsSJDDOUIiE5VNAwluYHRBs2TalVzJky8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP558926.RABRG8u1tNvNRsSJDDOUIiE5VNAwluYHRBs2TalVzJky8130_assertion
{
miriam-gene:247
a
ncit:C16612
.
lld:C0020758
a
ncit:C7057
.
dgn-gda:DGNf17429c47f2a2fe44bc4912506580388
sio:SIO_000628
miriam-gene:247
,
lld:C0020758
;
a
sio:SIO_001121
.
}
dgn-np:NP558926.RABRG8u1tNvNRsSJDDOUIiE5VNAwluYHRBs2TalVzJky8130_provenance
{
dgn-np:NP558926.RABRG8u1tNvNRsSJDDOUIiE5VNAwluYHRBs2TalVzJky8130_assertion
dcterms:description
"[We report clinical and molecular findings in 20 patients from 11 families with autosomal recessive congenital ichthyosis (ARCI) linked to chromosome 17p13, and attributed to mutations in the ALOX gene cluster, which includes three lipoxygenase genes, ALOXE3, ALOX12B, and ALOX15B.]. 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:17139268
;
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:NP558926.RABRG8u1tNvNRsSJDDOUIiE5VNAwluYHRBs2TalVzJky8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:37+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" .
}