@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_head
{
this:
np:hasAssertion
dgn-np:NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_assertion
;
np:hasProvenance
dgn-np:NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_assertion
a
np:Assertion
.
dgn-np:NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_provenance
a
np:Provenance
.
dgn-np:NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_assertion
{
miriam-gene:124583
a
ncit:C16612
.
lld:C0432242
a
ncit:C7057
.
dgn-gda:DGN1accdf2759adcaebdb53ae891aad3d90
sio:SIO_000628
miriam-gene:124583
,
lld:C0432242
;
a
sio:SIO_001121
.
}
dgn-np:NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_provenance
{
dgn-np:NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_assertion
dcterms:description
"[Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with chondrodysplasia with joint dislocations, gPAPP type due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and cleft palate.]. 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:22887726
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:21+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}