@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP602025.RAN5jL62ZcLEh8SYLZuuJeez5PTVvv_nUkhmgtv97zCII
> .
@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:NP602025.RAN5jL62ZcLEh8SYLZuuJeez5PTVvv_nUkhmgtv97zCII130_head
{
this:
np:hasAssertion
dgn-np:NP602025.RAN5jL62ZcLEh8SYLZuuJeez5PTVvv_nUkhmgtv97zCII130_assertion
;
np:hasProvenance
dgn-np:NP602025.RAN5jL62ZcLEh8SYLZuuJeez5PTVvv_nUkhmgtv97zCII130_provenance
;
np:hasPublicationInfo
dgn-np:NP602025.RAN5jL62ZcLEh8SYLZuuJeez5PTVvv_nUkhmgtv97zCII130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP602025.RAN5jL62ZcLEh8SYLZuuJeez5PTVvv_nUkhmgtv97zCII130_assertion
a
np:Assertion
.
dgn-np:NP602025.RAN5jL62ZcLEh8SYLZuuJeez5PTVvv_nUkhmgtv97zCII130_provenance
a
np:Provenance
.
dgn-np:NP602025.RAN5jL62ZcLEh8SYLZuuJeez5PTVvv_nUkhmgtv97zCII130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP602025.RAN5jL62ZcLEh8SYLZuuJeez5PTVvv_nUkhmgtv97zCII130_assertion
{
miriam-gene:6095
a
ncit:C16612
.
lld:C0004779
a
ncit:C7057
.
dgn-gda:DGN89415245fe229503bb3ecd4c1c808175
sio:SIO_000628
miriam-gene:6095
,
lld:C0004779
;
a
sio:SIO_001121
.
}
dgn-np:NP602025.RAN5jL62ZcLEh8SYLZuuJeez5PTVvv_nUkhmgtv97zCII130_provenance
{
dgn-np:NP602025.RAN5jL62ZcLEh8SYLZuuJeez5PTVvv_nUkhmgtv97zCII130_assertion
dcterms:description
"[Mutations of the former cause the nevoid basal cell carcinoma syndrome (NBCCS) while mutations in the ROR2 gene have been found both in Robinow syndrome and in brachydactyly type 1B (BDB1).]. 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:12548386
;
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:NP602025.RAN5jL62ZcLEh8SYLZuuJeez5PTVvv_nUkhmgtv97zCII130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:01+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" .
}