@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP502349.RAzISWeGEmOVp3kjQaOyCrA1u1I5IuWjfgquNYLxR1Kmo
> .
@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:NP502349.RAzISWeGEmOVp3kjQaOyCrA1u1I5IuWjfgquNYLxR1Kmo130_head
{
this:
np:hasAssertion
dgn-np:NP502349.RAzISWeGEmOVp3kjQaOyCrA1u1I5IuWjfgquNYLxR1Kmo130_assertion
;
np:hasProvenance
dgn-np:NP502349.RAzISWeGEmOVp3kjQaOyCrA1u1I5IuWjfgquNYLxR1Kmo130_provenance
;
np:hasPublicationInfo
dgn-np:NP502349.RAzISWeGEmOVp3kjQaOyCrA1u1I5IuWjfgquNYLxR1Kmo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP502349.RAzISWeGEmOVp3kjQaOyCrA1u1I5IuWjfgquNYLxR1Kmo130_assertion
a
np:Assertion
.
dgn-np:NP502349.RAzISWeGEmOVp3kjQaOyCrA1u1I5IuWjfgquNYLxR1Kmo130_provenance
a
np:Provenance
.
dgn-np:NP502349.RAzISWeGEmOVp3kjQaOyCrA1u1I5IuWjfgquNYLxR1Kmo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP502349.RAzISWeGEmOVp3kjQaOyCrA1u1I5IuWjfgquNYLxR1Kmo130_assertion
{
miriam-gene:26154
a
ncit:C16612
.
lld:C0473583
a
ncit:C7057
.
dgn-gda:DGN737d76e805ebe4873a35544e5558e2d8
sio:SIO_000628
miriam-gene:26154
,
lld:C0473583
;
a
sio:SIO_001121
.
}
dgn-np:NP502349.RAzISWeGEmOVp3kjQaOyCrA1u1I5IuWjfgquNYLxR1Kmo130_provenance
{
dgn-np:NP502349.RAzISWeGEmOVp3kjQaOyCrA1u1I5IuWjfgquNYLxR1Kmo130_assertion
dcterms:description
"[Recently, mutations in two ABC-transporter genes, ABCC6 and ABCA12, have been demonstrated to underlie phenotypically different diseases affecting the skin (pseudoxanthoma elasticum and harlequin ichthyosis, respectively), attesting to the spectrum of ABC gene mutations in human diseases.]. 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:15996518
;
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:NP502349.RAzISWeGEmOVp3kjQaOyCrA1u1I5IuWjfgquNYLxR1Kmo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:32+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" .
}