@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP643906.RAb7_vMZPPTsqTM41x0QlW-sXT0BY1zO5BOlH0982Ddl8
> .
@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:NP643906.RAb7_vMZPPTsqTM41x0QlW-sXT0BY1zO5BOlH0982Ddl8130_head
{
this:
np:hasAssertion
dgn-np:NP643906.RAb7_vMZPPTsqTM41x0QlW-sXT0BY1zO5BOlH0982Ddl8130_assertion
;
np:hasProvenance
dgn-np:NP643906.RAb7_vMZPPTsqTM41x0QlW-sXT0BY1zO5BOlH0982Ddl8130_provenance
;
np:hasPublicationInfo
dgn-np:NP643906.RAb7_vMZPPTsqTM41x0QlW-sXT0BY1zO5BOlH0982Ddl8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP643906.RAb7_vMZPPTsqTM41x0QlW-sXT0BY1zO5BOlH0982Ddl8130_assertion
a
np:Assertion
.
dgn-np:NP643906.RAb7_vMZPPTsqTM41x0QlW-sXT0BY1zO5BOlH0982Ddl8130_provenance
a
np:Provenance
.
dgn-np:NP643906.RAb7_vMZPPTsqTM41x0QlW-sXT0BY1zO5BOlH0982Ddl8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP643906.RAb7_vMZPPTsqTM41x0QlW-sXT0BY1zO5BOlH0982Ddl8130_assertion
{
miriam-gene:6939
a
ncit:C16612
.
lld:C0023374
a
ncit:C7057
.
dgn-gda:DGN7bb67f778408a9b83629df0b96f1f603
sio:SIO_000628
miriam-gene:6939
,
lld:C0023374
;
a
sio:SIO_001121
.
}
dgn-np:NP643906.RAb7_vMZPPTsqTM41x0QlW-sXT0BY1zO5BOlH0982Ddl8130_provenance
{
dgn-np:NP643906.RAb7_vMZPPTsqTM41x0QlW-sXT0BY1zO5BOlH0982Ddl8130_assertion
dcterms:description
"[Lesch-Nyhan disease (LND) is an inborn error of purine metabolism caused by defective activity of the enzyme hypoxanthine guanine phosphoribosyl transferase (HPRT, EC 2.4.2.8), resulting from mutation in the corresponding gene on the long arm of the X chromosome (Xq26).]. 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:15862283
;
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:NP643906.RAb7_vMZPPTsqTM41x0QlW-sXT0BY1zO5BOlH0982Ddl8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:28+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" .
}