@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0
> .
@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:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_head
{
this:
np:hasAssertion
dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_assertion
;
np:hasProvenance
dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_provenance
;
np:hasPublicationInfo
dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_assertion
a
np:Assertion
.
dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_provenance
a
np:Provenance
.
dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_assertion
{
miriam-gene:3242
a
ncit:C16612
.
lld:C0268490
a
ncit:C7057
.
dgn-gda:DGN3fdd38e12ddf87626f237007e9657e4c
sio:SIO_000628
miriam-gene:3242
,
lld:C0268490
;
a
sio:SIO_001121
.
}
dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_provenance
{
dgn-np:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_assertion
dcterms:description
"[The severe type I tyrosinemia, caused by a deficiency of fumarylacetoacetate hydrolase which functions downstream of HPD in the tyrosine degradation pathway, is often associated with decreased expression of HPD, and interestingly, inhibition of HPD activity seems to ameliorate the clinical symptoms of type I tyrosinemia.]. 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:12127941
;
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:NP228961.RAXM_ozLdUqzao7RTlwvuGms1XsIO4T3Ea8Z0BMXtGBj0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:08+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" .
}