@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP171499.RAVopTYw8h0UDZWhuZGKf_YQKIk90l64C6xj_ySIBXGIU
> .
@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:NP171499.RAVopTYw8h0UDZWhuZGKf_YQKIk90l64C6xj_ySIBXGIU130_head
{
this:
np:hasAssertion
dgn-np:NP171499.RAVopTYw8h0UDZWhuZGKf_YQKIk90l64C6xj_ySIBXGIU130_assertion
;
np:hasProvenance
dgn-np:NP171499.RAVopTYw8h0UDZWhuZGKf_YQKIk90l64C6xj_ySIBXGIU130_provenance
;
np:hasPublicationInfo
dgn-np:NP171499.RAVopTYw8h0UDZWhuZGKf_YQKIk90l64C6xj_ySIBXGIU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP171499.RAVopTYw8h0UDZWhuZGKf_YQKIk90l64C6xj_ySIBXGIU130_assertion
a
np:Assertion
.
dgn-np:NP171499.RAVopTYw8h0UDZWhuZGKf_YQKIk90l64C6xj_ySIBXGIU130_provenance
a
np:Provenance
.
dgn-np:NP171499.RAVopTYw8h0UDZWhuZGKf_YQKIk90l64C6xj_ySIBXGIU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP171499.RAVopTYw8h0UDZWhuZGKf_YQKIk90l64C6xj_ySIBXGIU130_assertion
{
miriam-gene:5925
a
ncit:C16612
.
lld:C0392777
a
ncit:C7057
.
dgn-gda:DGNb4a6f0bc97b254df68204443b65b044f
sio:SIO_000628
miriam-gene:5925
,
lld:C0392777
;
a
sio:SIO_001121
.
}
dgn-np:NP171499.RAVopTYw8h0UDZWhuZGKf_YQKIk90l64C6xj_ySIBXGIU130_provenance
{
dgn-np:NP171499.RAVopTYw8h0UDZWhuZGKf_YQKIk90l64C6xj_ySIBXGIU130_assertion
dcterms:description
"[Two clinical subforms of RTS have been defined: RTSI characterised by poikiloderma, ectodermal dysplasia and juvenile cataracts, and RTSII characterised by poikiloderma, congenital bone defects and an increased risk of osteosarcoma in childhood and skin cancer later in life.]. 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:20113479
;
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:NP171499.RAVopTYw8h0UDZWhuZGKf_YQKIk90l64C6xj_ySIBXGIU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:32+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: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" .
}