@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP268918.RAP9hl43V6FiLHizkRY5fjTVavvzbBrEZVPeKclFnXyaM
> .
@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:NP268918.RAP9hl43V6FiLHizkRY5fjTVavvzbBrEZVPeKclFnXyaM130_head
{
this:
np:hasAssertion
dgn-np:NP268918.RAP9hl43V6FiLHizkRY5fjTVavvzbBrEZVPeKclFnXyaM130_assertion
;
np:hasProvenance
dgn-np:NP268918.RAP9hl43V6FiLHizkRY5fjTVavvzbBrEZVPeKclFnXyaM130_provenance
;
np:hasPublicationInfo
dgn-np:NP268918.RAP9hl43V6FiLHizkRY5fjTVavvzbBrEZVPeKclFnXyaM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP268918.RAP9hl43V6FiLHizkRY5fjTVavvzbBrEZVPeKclFnXyaM130_assertion
a
np:Assertion
.
dgn-np:NP268918.RAP9hl43V6FiLHizkRY5fjTVavvzbBrEZVPeKclFnXyaM130_provenance
a
np:Provenance
.
dgn-np:NP268918.RAP9hl43V6FiLHizkRY5fjTVavvzbBrEZVPeKclFnXyaM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP268918.RAP9hl43V6FiLHizkRY5fjTVavvzbBrEZVPeKclFnXyaM130_assertion
{
miriam-gene:116442
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGN16d8e8540c0450069eaee5b5e147a9fe
sio:SIO_000628
miriam-gene:116442
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP268918.RAP9hl43V6FiLHizkRY5fjTVavvzbBrEZVPeKclFnXyaM130_provenance
{
dgn-np:NP268918.RAP9hl43V6FiLHizkRY5fjTVavvzbBrEZVPeKclFnXyaM130_assertion
dcterms:description
"[The small GTPases of the RAB family, which play an essential role in intracellular vesicular trafficking, have been shown to be involved in MR. We report here the identification of mutations in the small GTPase RAB39B gene in two male patients.]. 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:20159109
;
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:NP268918.RAP9hl43V6FiLHizkRY5fjTVavvzbBrEZVPeKclFnXyaM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:30+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" .
}