@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1360625.RAgHuLVLdBjhR0MVz4cB6VcsXkXXh-Ph5YiCJkwEs38qA
> .
@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:NP1360625.RAgHuLVLdBjhR0MVz4cB6VcsXkXXh-Ph5YiCJkwEs38qA130_head
{
this:
np:hasAssertion
dgn-np:NP1360625.RAgHuLVLdBjhR0MVz4cB6VcsXkXXh-Ph5YiCJkwEs38qA130_assertion
;
np:hasProvenance
dgn-np:NP1360625.RAgHuLVLdBjhR0MVz4cB6VcsXkXXh-Ph5YiCJkwEs38qA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1360625.RAgHuLVLdBjhR0MVz4cB6VcsXkXXh-Ph5YiCJkwEs38qA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1360625.RAgHuLVLdBjhR0MVz4cB6VcsXkXXh-Ph5YiCJkwEs38qA130_assertion
a
np:Assertion
.
dgn-np:NP1360625.RAgHuLVLdBjhR0MVz4cB6VcsXkXXh-Ph5YiCJkwEs38qA130_provenance
a
np:Provenance
.
dgn-np:NP1360625.RAgHuLVLdBjhR0MVz4cB6VcsXkXXh-Ph5YiCJkwEs38qA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1360625.RAgHuLVLdBjhR0MVz4cB6VcsXkXXh-Ph5YiCJkwEs38qA130_assertion
{
miriam-gene:5979
a
ncit:C16612
.
lld:C2931876
a
ncit:C7057
.
dgn-gda:DGN34c040b8bc126229b0e7b924dc7499d4
sio:SIO_000628
miriam-gene:5979
,
lld:C2931876
;
a
sio:SIO_001121
.
}
dgn-np:NP1360625.RAgHuLVLdBjhR0MVz4cB6VcsXkXXh-Ph5YiCJkwEs38qA130_provenance
{
dgn-np:NP1360625.RAgHuLVLdBjhR0MVz4cB6VcsXkXXh-Ph5YiCJkwEs38qA130_assertion
dcterms:description
"[Linkage analyses performed in this family support the view that neither the RET locus (candidate for familial dominant Hirschsprung disease) nor the HuP2 locus (candidate for Waardenburg syndrome type I) are involved in the disease phenotype.]. 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:8877363
;
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:NP1360625.RAgHuLVLdBjhR0MVz4cB6VcsXkXXh-Ph5YiCJkwEs38qA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:03+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" .
}