@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo
> .
@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:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_head
{
this:
np:hasAssertion
dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_assertion
;
np:hasProvenance
dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_provenance
;
np:hasPublicationInfo
dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_assertion
a
np:Assertion
.
dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_provenance
a
np:Provenance
.
dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_assertion
{
miriam-gene:2668
a
ncit:C16612
.
lld:C2931876
a
ncit:C7057
.
dgn-gda:DGN6566a7ca0f164f6a4c45ff5a70ec98c6
sio:SIO_000628
miriam-gene:2668
,
lld:C2931876
;
a
sio:SIO_001122
.
}
dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_provenance
{
dgn-np:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_assertion
dcterms:description
"[GDNF sequence variants including R93W have been suggested previously to represent low penetrance susceptibility mutations for Hirschsprung disease and the R93W was not identified in 376 control alleles studied by others.]. 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:9215674
;
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:NP1376411.RAzNqGLfPR9ViAoUHnuhsihitv-NQj7wWlOpu0wiZRBYo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:09+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" .
}