@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP482505.RAtbITjNePCXm9ktKKZEqV5a6mE7NjbDSLyMdL1j3zDXc
> .
@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:NP482505.RAtbITjNePCXm9ktKKZEqV5a6mE7NjbDSLyMdL1j3zDXc130_head
{
this:
np:hasAssertion
dgn-np:NP482505.RAtbITjNePCXm9ktKKZEqV5a6mE7NjbDSLyMdL1j3zDXc130_assertion
;
np:hasProvenance
dgn-np:NP482505.RAtbITjNePCXm9ktKKZEqV5a6mE7NjbDSLyMdL1j3zDXc130_provenance
;
np:hasPublicationInfo
dgn-np:NP482505.RAtbITjNePCXm9ktKKZEqV5a6mE7NjbDSLyMdL1j3zDXc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP482505.RAtbITjNePCXm9ktKKZEqV5a6mE7NjbDSLyMdL1j3zDXc130_assertion
a
np:Assertion
.
dgn-np:NP482505.RAtbITjNePCXm9ktKKZEqV5a6mE7NjbDSLyMdL1j3zDXc130_provenance
a
np:Provenance
.
dgn-np:NP482505.RAtbITjNePCXm9ktKKZEqV5a6mE7NjbDSLyMdL1j3zDXc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP482505.RAtbITjNePCXm9ktKKZEqV5a6mE7NjbDSLyMdL1j3zDXc130_assertion
{
miriam-gene:8091
a
ncit:C16612
.
lld:C1849524
a
ncit:C7057
.
dgn-gda:DGN78d64cbedc5018f7261a7e1c58620f59
sio:SIO_000628
miriam-gene:8091
,
lld:C1849524
;
a
sio:SIO_001121
.
}
dgn-np:NP482505.RAtbITjNePCXm9ktKKZEqV5a6mE7NjbDSLyMdL1j3zDXc130_provenance
{
dgn-np:NP482505.RAtbITjNePCXm9ktKKZEqV5a6mE7NjbDSLyMdL1j3zDXc130_assertion
dcterms:description
"[Among the deleted genes, HMGA2 is of particular interest in relationship to the aberrant somatic growth in our patient, as HMGA2 variants have been linked to stature variations in the general population and loss of function of Hmga2 in the mouse results in the pygmy phenotype that combines pre and postnatal growth failure, with resistance to the adipogenic effect of overfeeding.]. 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:19277063
;
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:NP482505.RAtbITjNePCXm9ktKKZEqV5a6mE7NjbDSLyMdL1j3zDXc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:48+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" .
}