@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP574121.RAGZSYWgKRpjhMCps_blRHGZxH9pFe4Dt5pHeAaiNDKL4
> .
@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:NP574121.RAGZSYWgKRpjhMCps_blRHGZxH9pFe4Dt5pHeAaiNDKL4130_head
{
this:
np:hasAssertion
dgn-np:NP574121.RAGZSYWgKRpjhMCps_blRHGZxH9pFe4Dt5pHeAaiNDKL4130_assertion
;
np:hasProvenance
dgn-np:NP574121.RAGZSYWgKRpjhMCps_blRHGZxH9pFe4Dt5pHeAaiNDKL4130_provenance
;
np:hasPublicationInfo
dgn-np:NP574121.RAGZSYWgKRpjhMCps_blRHGZxH9pFe4Dt5pHeAaiNDKL4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP574121.RAGZSYWgKRpjhMCps_blRHGZxH9pFe4Dt5pHeAaiNDKL4130_assertion
a
np:Assertion
.
dgn-np:NP574121.RAGZSYWgKRpjhMCps_blRHGZxH9pFe4Dt5pHeAaiNDKL4130_provenance
a
np:Provenance
.
dgn-np:NP574121.RAGZSYWgKRpjhMCps_blRHGZxH9pFe4Dt5pHeAaiNDKL4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP574121.RAGZSYWgKRpjhMCps_blRHGZxH9pFe4Dt5pHeAaiNDKL4130_assertion
{
miriam-gene:4914
a
ncit:C16612
.
lld:C0003028
a
ncit:C7057
.
dgn-gda:DGNd24eeb182a43407957fe124903c91a40
sio:SIO_000628
miriam-gene:4914
,
lld:C0003028
;
a
sio:SIO_001121
.
}
dgn-np:NP574121.RAGZSYWgKRpjhMCps_blRHGZxH9pFe4Dt5pHeAaiNDKL4130_provenance
{
dgn-np:NP574121.RAGZSYWgKRpjhMCps_blRHGZxH9pFe4Dt5pHeAaiNDKL4130_assertion
dcterms:description
"[Patients with congenital insensitivity to pain and anhidrosis (CIPA), caused by mutations in the NTRK1 gene, can be difficult to diagnose because of their variable presentation, the lack of simple diagnostic tests, and the paucity of cases reported in North America.]. 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:12949319
;
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:NP574121.RAGZSYWgKRpjhMCps_blRHGZxH9pFe4Dt5pHeAaiNDKL4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:46+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" .
}