@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA
> .
@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:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_head
{
this:
np:hasAssertion
dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_assertion
;
np:hasProvenance
dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_provenance
;
np:hasPublicationInfo
dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_assertion
a
np:Assertion
.
dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_provenance
a
np:Provenance
.
dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_assertion
{
miriam-gene:55238
a
ncit:C16612
.
lld:C0268654
a
ncit:C7057
.
dgn-gda:DGNfd29ef3ec1224e7fddbe1ccf5fbabc5f
sio:SIO_000628
miriam-gene:55238
,
lld:C0268654
;
a
sio:SIO_001121
.
}
dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_provenance
{
dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_assertion
dcterms:description
"[Both inheritance and functional studies identified the gene encoding the proton amino acid transporter SLC36A2 (PAT2) as the major gene responsible for IG in these families, and its inheritance was consistent with a classical semidominant pattern in which 2 inherited nonfunctional alleles conferred the IG phenotype, while 1 nonfunctional allele was sufficient to confer the HG phenotype.]. 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:19033659
;
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:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:41+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" .
}