@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP721711.RAvYyJV0e_L-L3TFJ_CNJdk_Ajgb8C5CTk38uWkh--89g
> .
@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:NP721711.RAvYyJV0e_L-L3TFJ_CNJdk_Ajgb8C5CTk38uWkh--89g130_head
{
this:
np:hasAssertion
dgn-np:NP721711.RAvYyJV0e_L-L3TFJ_CNJdk_Ajgb8C5CTk38uWkh--89g130_assertion
;
np:hasProvenance
dgn-np:NP721711.RAvYyJV0e_L-L3TFJ_CNJdk_Ajgb8C5CTk38uWkh--89g130_provenance
;
np:hasPublicationInfo
dgn-np:NP721711.RAvYyJV0e_L-L3TFJ_CNJdk_Ajgb8C5CTk38uWkh--89g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP721711.RAvYyJV0e_L-L3TFJ_CNJdk_Ajgb8C5CTk38uWkh--89g130_assertion
a
np:Assertion
.
dgn-np:NP721711.RAvYyJV0e_L-L3TFJ_CNJdk_Ajgb8C5CTk38uWkh--89g130_provenance
a
np:Provenance
.
dgn-np:NP721711.RAvYyJV0e_L-L3TFJ_CNJdk_Ajgb8C5CTk38uWkh--89g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP721711.RAvYyJV0e_L-L3TFJ_CNJdk_Ajgb8C5CTk38uWkh--89g130_assertion
{
miriam-gene:8398
a
ncit:C16612
.
lld:C0023520
a
ncit:C7057
.
dgn-gda:DGN5b0da64f2d394b36a38022a4a1ed5cb7
sio:SIO_000628
miriam-gene:8398
,
lld:C0023520
;
a
sio:SIO_001121
.
}
dgn-np:NP721711.RAvYyJV0e_L-L3TFJ_CNJdk_Ajgb8C5CTk38uWkh--89g130_provenance
{
dgn-np:NP721711.RAvYyJV0e_L-L3TFJ_CNJdk_Ajgb8C5CTk38uWkh--89g130_assertion
dcterms:description
"[Analogous to what has been reported previously for PLA2G6, the phenotypic spectrum of FA2H mutations is diverse based on our findings and those of prior investigators, because FA2H mutations have been identified in both a form of hereditary spastic paraplegia (SPG35) and a progressive familial leukodystrophy.]. 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:20853438
;
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:NP721711.RAvYyJV0e_L-L3TFJ_CNJdk_Ajgb8C5CTk38uWkh--89g130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:18+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" .
}