@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1096564.RA12J9kHz8pr6rj6MS4iaKq1kbWBLLXzgTM9kIe_i5RNo
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
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{
this:
np:hasAssertion
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;
np:hasProvenance
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np:hasPublicationInfo
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a
np:Nanopublication
.
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a
np:Assertion
.
dgn-np:NP1096564.RA12J9kHz8pr6rj6MS4iaKq1kbWBLLXzgTM9kIe_i5RNo130_provenance
a
np:Provenance
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a
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{
miriam-gene:7046
a
ncit:C16612
.
lld:C2697932
a
ncit:C7057
.
dgn-gda:DGNccb680b73cd824e26cbd86512019dd1f
sio:SIO_000628
miriam-gene:7046
,
lld:C2697932
;
a
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.
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dgn-np:NP1096564.RA12J9kHz8pr6rj6MS4iaKq1kbWBLLXzgTM9kIe_i5RNo130_provenance
{
dgn-np:NP1096564.RA12J9kHz8pr6rj6MS4iaKq1kbWBLLXzgTM9kIe_i5RNo130_assertion
dcterms:description
"[We demonstrate that patients with Loeys-Dietz syndrome (LDS), an autosomal dominant disorder caused by mutations in the genes encoding receptor subunits for TGFβ, TGFBR1 and TGFBR2, are strongly predisposed to develop allergic disease, including asthma, food allergy, eczema, allergic rhinitis, and eosinophilic gastrointestinal disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
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sio:SIO_000772
miriam-pubmed:23884466
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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 .
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dgn-np:NP1096564.RA12J9kHz8pr6rj6MS4iaKq1kbWBLLXzgTM9kIe_i5RNo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:03+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
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;
pav:authoredBy
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> , <
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> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
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http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
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pav:version
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