@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP874426.RAy2mSi6qCmcXeSRWOZfv01zT84XV9PY1GM24PkLLcPJ0
> .
@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:NP874426.RAy2mSi6qCmcXeSRWOZfv01zT84XV9PY1GM24PkLLcPJ0130_head
{
this:
np:hasAssertion
dgn-np:NP874426.RAy2mSi6qCmcXeSRWOZfv01zT84XV9PY1GM24PkLLcPJ0130_assertion
;
np:hasProvenance
dgn-np:NP874426.RAy2mSi6qCmcXeSRWOZfv01zT84XV9PY1GM24PkLLcPJ0130_provenance
;
np:hasPublicationInfo
dgn-np:NP874426.RAy2mSi6qCmcXeSRWOZfv01zT84XV9PY1GM24PkLLcPJ0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP874426.RAy2mSi6qCmcXeSRWOZfv01zT84XV9PY1GM24PkLLcPJ0130_assertion
a
np:Assertion
.
dgn-np:NP874426.RAy2mSi6qCmcXeSRWOZfv01zT84XV9PY1GM24PkLLcPJ0130_provenance
a
np:Provenance
.
dgn-np:NP874426.RAy2mSi6qCmcXeSRWOZfv01zT84XV9PY1GM24PkLLcPJ0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP874426.RAy2mSi6qCmcXeSRWOZfv01zT84XV9PY1GM24PkLLcPJ0130_assertion
{
miriam-gene:8647
a
ncit:C16612
.
lld:C0268312
a
ncit:C7057
.
dgn-gda:DGNed60c91764d5d898b07a3b406c447663
sio:SIO_000628
miriam-gene:8647
,
lld:C0268312
;
a
sio:SIO_001121
.
}
dgn-np:NP874426.RAy2mSi6qCmcXeSRWOZfv01zT84XV9PY1GM24PkLLcPJ0130_provenance
{
dgn-np:NP874426.RAy2mSi6qCmcXeSRWOZfv01zT84XV9PY1GM24PkLLcPJ0130_assertion
dcterms:description
"[The currently preferred nomenclature for the three PFIC disorders that have been characterized to date is FIC1 deficiency, BSEP deficiency, and MDR3 deficiency, relating to mutations in the specific genes involved in bile acid formation and transport.]. 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:21344347
;
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:NP874426.RAy2mSi6qCmcXeSRWOZfv01zT84XV9PY1GM24PkLLcPJ0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:21+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" .
}