@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP164070.RARKtHbvtU6LZguEHMeYOwrzDSA8kjpLtmDLEWovFPIu0
> .
@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:NP164070.RARKtHbvtU6LZguEHMeYOwrzDSA8kjpLtmDLEWovFPIu0130_head
{
this:
np:hasAssertion
dgn-np:NP164070.RARKtHbvtU6LZguEHMeYOwrzDSA8kjpLtmDLEWovFPIu0130_assertion
;
np:hasProvenance
dgn-np:NP164070.RARKtHbvtU6LZguEHMeYOwrzDSA8kjpLtmDLEWovFPIu0130_provenance
;
np:hasPublicationInfo
dgn-np:NP164070.RARKtHbvtU6LZguEHMeYOwrzDSA8kjpLtmDLEWovFPIu0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP164070.RARKtHbvtU6LZguEHMeYOwrzDSA8kjpLtmDLEWovFPIu0130_assertion
a
np:Assertion
.
dgn-np:NP164070.RARKtHbvtU6LZguEHMeYOwrzDSA8kjpLtmDLEWovFPIu0130_provenance
a
np:Provenance
.
dgn-np:NP164070.RARKtHbvtU6LZguEHMeYOwrzDSA8kjpLtmDLEWovFPIu0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP164070.RARKtHbvtU6LZguEHMeYOwrzDSA8kjpLtmDLEWovFPIu0130_assertion
{
miriam-gene:10682
a
ncit:C16612
.
lld:C0870082
a
ncit:C7057
.
dgn-gda:DGN9096e7c9db27792a12cae4360a48fa95
sio:SIO_000628
miriam-gene:10682
,
lld:C0870082
;
a
sio:SIO_001121
.
}
dgn-np:NP164070.RARKtHbvtU6LZguEHMeYOwrzDSA8kjpLtmDLEWovFPIu0130_provenance
{
dgn-np:NP164070.RARKtHbvtU6LZguEHMeYOwrzDSA8kjpLtmDLEWovFPIu0130_assertion
dcterms:description
"[CDPX2 patients display skin defects including linear or whorled atrophic and pigmentary lesions, striated hyperkeratosis, coarse lusterless hair and alopecia, cataracts and skeletal abnormalities including short stature, rhizomelic shortening of the limbs, epiphyseal stippling and craniofacial defects (MIM 302960).]. 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:10391218
;
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:NP164070.RARKtHbvtU6LZguEHMeYOwrzDSA8kjpLtmDLEWovFPIu0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:29+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" .
}