@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP643685.RABFdq5R2KECnUoNUm8lomqI3ndKxjTGggebv6_JzginM
> .
@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:NP643685.RABFdq5R2KECnUoNUm8lomqI3ndKxjTGggebv6_JzginM130_head
{
this:
np:hasAssertion
dgn-np:NP643685.RABFdq5R2KECnUoNUm8lomqI3ndKxjTGggebv6_JzginM130_assertion
;
np:hasProvenance
dgn-np:NP643685.RABFdq5R2KECnUoNUm8lomqI3ndKxjTGggebv6_JzginM130_provenance
;
np:hasPublicationInfo
dgn-np:NP643685.RABFdq5R2KECnUoNUm8lomqI3ndKxjTGggebv6_JzginM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP643685.RABFdq5R2KECnUoNUm8lomqI3ndKxjTGggebv6_JzginM130_assertion
a
np:Assertion
.
dgn-np:NP643685.RABFdq5R2KECnUoNUm8lomqI3ndKxjTGggebv6_JzginM130_provenance
a
np:Provenance
.
dgn-np:NP643685.RABFdq5R2KECnUoNUm8lomqI3ndKxjTGggebv6_JzginM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP643685.RABFdq5R2KECnUoNUm8lomqI3ndKxjTGggebv6_JzginM130_assertion
{
miriam-gene:2261
a
ncit:C16612
.
lld:C0010273
a
ncit:C7057
.
dgn-gda:DGNdceab51706f1e5eeb22cb910d0975562
sio:SIO_000628
miriam-gene:2261
,
lld:C0010273
;
a
sio:SIO_001121
.
}
dgn-np:NP643685.RABFdq5R2KECnUoNUm8lomqI3ndKxjTGggebv6_JzginM130_provenance
{
dgn-np:NP643685.RABFdq5R2KECnUoNUm8lomqI3ndKxjTGggebv6_JzginM130_assertion
dcterms:description
"[Acanthosis nigricans (AN) has been reported in association with severe skeletal dysplasias due to activating mutations in FGFR3, including thanatophoric dysplasia, severe achondroplasia (ACH) with developmental delay and AN (SADDAN syndrome), and Crouzon syndrome with AN.]. 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:19622626
;
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:NP643685.RABFdq5R2KECnUoNUm8lomqI3ndKxjTGggebv6_JzginM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:28+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" .
}