@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA
> .
@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:NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_head
{
this:
np:hasAssertion
dgn-np:NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_assertion
;
np:hasProvenance
dgn-np:NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_provenance
;
np:hasPublicationInfo
dgn-np:NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_assertion
a
np:Assertion
.
dgn-np:NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_provenance
a
np:Provenance
.
dgn-np:NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_assertion
{
miriam-gene:215
a
ncit:C16612
.
lld:C0162309
a
ncit:C7057
.
dgn-gda:DGNb7bb9e9adde1851a50accc6eb3a257d8
sio:SIO_000628
miriam-gene:215
,
lld:C0162309
;
a
sio:SIO_001122
.
}
dgn-np:NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_provenance
{
dgn-np:NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_assertion
dcterms:description
"[The disruptive nature of two mutations (i.e., the frameshift and the nonsense mutation) in patients with biochemically proved childhood ALD and AMN further strongly supports the hypothesis that alterations in this gene play a crucial role in the pathogenesis of X-ALD.]. 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:7717396
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
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-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:53+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" .
}