@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP3094.RALo9iAL8t4K516f1PxH1g46emtaTjooioeckoLVoxtnk
> .
@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:NP3094.RALo9iAL8t4K516f1PxH1g46emtaTjooioeckoLVoxtnk130_head
{
this:
np:hasAssertion
dgn-np:NP3094.RALo9iAL8t4K516f1PxH1g46emtaTjooioeckoLVoxtnk130_assertion
;
np:hasProvenance
dgn-np:NP3094.RALo9iAL8t4K516f1PxH1g46emtaTjooioeckoLVoxtnk130_provenance
;
np:hasPublicationInfo
dgn-np:NP3094.RALo9iAL8t4K516f1PxH1g46emtaTjooioeckoLVoxtnk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP3094.RALo9iAL8t4K516f1PxH1g46emtaTjooioeckoLVoxtnk130_assertion
a
np:Assertion
.
dgn-np:NP3094.RALo9iAL8t4K516f1PxH1g46emtaTjooioeckoLVoxtnk130_provenance
a
np:Provenance
.
dgn-np:NP3094.RALo9iAL8t4K516f1PxH1g46emtaTjooioeckoLVoxtnk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP3094.RALo9iAL8t4K516f1PxH1g46emtaTjooioeckoLVoxtnk130_assertion
{
miriam-gene:3242
a
ncit:C16612
.
lld:C0268623
a
ncit:C7057
.
dgn-gda:DGNf373a19fbc477ec004798d4112d9163a
sio:SIO_000628
miriam-gene:3242
,
lld:C0268623
;
a
sio:SIO_001122
.
}
dgn-np:NP3094.RALo9iAL8t4K516f1PxH1g46emtaTjooioeckoLVoxtnk130_provenance
{
dgn-np:NP3094.RALo9iAL8t4K516f1PxH1g46emtaTjooioeckoLVoxtnk130_assertion
dcterms:description
"[A deficiency in the catalytic activity of HPD may lead to tyrosinemia type III, an autosomal recessive disorder characterized by elevated levels of blood tyrosine and massive excretion of tyrosine derivatives into urine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:11073718
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP3094.RALo9iAL8t4K516f1PxH1g46emtaTjooioeckoLVoxtnk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:31:59+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" .
}