@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP834797.RAAqshwTHAszfpBl80HUvhgfzPuUzrb_D6Wwecj5wJRjo
> .
@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:NP834797.RAAqshwTHAszfpBl80HUvhgfzPuUzrb_D6Wwecj5wJRjo130_head
{
this:
np:hasAssertion
dgn-np:NP834797.RAAqshwTHAszfpBl80HUvhgfzPuUzrb_D6Wwecj5wJRjo130_assertion
;
np:hasProvenance
dgn-np:NP834797.RAAqshwTHAszfpBl80HUvhgfzPuUzrb_D6Wwecj5wJRjo130_provenance
;
np:hasPublicationInfo
dgn-np:NP834797.RAAqshwTHAszfpBl80HUvhgfzPuUzrb_D6Wwecj5wJRjo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP834797.RAAqshwTHAszfpBl80HUvhgfzPuUzrb_D6Wwecj5wJRjo130_assertion
a
np:Assertion
.
dgn-np:NP834797.RAAqshwTHAszfpBl80HUvhgfzPuUzrb_D6Wwecj5wJRjo130_provenance
a
np:Provenance
.
dgn-np:NP834797.RAAqshwTHAszfpBl80HUvhgfzPuUzrb_D6Wwecj5wJRjo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP834797.RAAqshwTHAszfpBl80HUvhgfzPuUzrb_D6Wwecj5wJRjo130_assertion
{
miriam-gene:6046
a
ncit:C16612
.
lld:C0268151
a
ncit:C7057
.
dgn-gda:DGN973ace2d27bd94c150c6ec434721a75c
sio:SIO_000628
miriam-gene:6046
,
lld:C0268151
;
a
sio:SIO_001121
.
}
dgn-np:NP834797.RAAqshwTHAszfpBl80HUvhgfzPuUzrb_D6Wwecj5wJRjo130_provenance
{
dgn-np:NP834797.RAAqshwTHAszfpBl80HUvhgfzPuUzrb_D6Wwecj5wJRjo130_assertion
dcterms:description
"[Possession of GALT polymorphisms previously linked with low GALT activity, including the Q188R mutation of classic galactosemia or N314D mutation of the Duarte galactosemia variant, was associated with significantly higher FSH, even in the heterozygous state.]. 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:7962282
;
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:NP834797.RAAqshwTHAszfpBl80HUvhgfzPuUzrb_D6Wwecj5wJRjo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:30+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" .
}