@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP730925.RAxs1csmU4B0jWskeWvP0CTiIs3SPSCBK9QWqwu3zElDo
> .
@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/v3.0.0/void/
> .
dgn-np:NP730925.RAxs1csmU4B0jWskeWvP0CTiIs3SPSCBK9QWqwu3zElDo130_head
{
this:
np:hasAssertion
dgn-np:NP730925.RAxs1csmU4B0jWskeWvP0CTiIs3SPSCBK9QWqwu3zElDo130_assertion
;
np:hasProvenance
dgn-np:NP730925.RAxs1csmU4B0jWskeWvP0CTiIs3SPSCBK9QWqwu3zElDo130_provenance
;
np:hasPublicationInfo
dgn-np:NP730925.RAxs1csmU4B0jWskeWvP0CTiIs3SPSCBK9QWqwu3zElDo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP730925.RAxs1csmU4B0jWskeWvP0CTiIs3SPSCBK9QWqwu3zElDo130_assertion
a
np:Assertion
.
dgn-np:NP730925.RAxs1csmU4B0jWskeWvP0CTiIs3SPSCBK9QWqwu3zElDo130_provenance
a
np:Provenance
.
dgn-np:NP730925.RAxs1csmU4B0jWskeWvP0CTiIs3SPSCBK9QWqwu3zElDo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP730925.RAxs1csmU4B0jWskeWvP0CTiIs3SPSCBK9QWqwu3zElDo130_assertion
{
miriam-gene:7038
a
ncit:C16612
.
lld:C0266617
a
ncit:C7057
.
dgn-gda:DGNc4cca2e43d97d28a55468c5fddc17998
sio:SIO_000628
miriam-gene:7038
,
lld:C0266617
;
a
sio:SIO_001121
.
}
dgn-np:NP730925.RAxs1csmU4B0jWskeWvP0CTiIs3SPSCBK9QWqwu3zElDo130_provenance
{
dgn-np:NP730925.RAxs1csmU4B0jWskeWvP0CTiIs3SPSCBK9QWqwu3zElDo130_assertion
dcterms:description
"[Both patients presented with neonatal diabetes mellitus, severe resistant hypothyroidism in the presence of elevated thyroglobulin and normal thyroid anatomy, degenerative liver disease, cystic renal dysplasia, recurrent infections and facial dysmorphism.]. 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:21139041
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP730925.RAxs1csmU4B0jWskeWvP0CTiIs3SPSCBK9QWqwu3zElDo130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:45:01+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}