@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo
> .
@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/v3.0.0/void/
> .
dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_head
{
this:
np:hasAssertion
dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_assertion
;
np:hasProvenance
dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_provenance
;
np:hasPublicationInfo
dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_assertion
a
np:Assertion
.
dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_provenance
a
np:Provenance
.
dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_assertion
{
miriam-gene:10743
a
ncit:C16612
.
lld:C0795864
a
ncit:C7057
.
dgn-gda:DGNfa37ad6cf83012938fdb658373bcde2b
sio:SIO_000628
miriam-gene:10743
,
lld:C0795864
;
a
sio:SIO_001121
.
}
dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_provenance
{
dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_assertion
dcterms:description
"[Our data show that genetic background or modifier genes also significantly contribute to the severity of the phenotypes in SMS mouse models, mirroring the phenotypic variation observed in humans with Smith-Magenis syndrome and support the need for investigation of modifier loci for both single gene and complex genetic syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:19116176
;
prov:wasDerivedFrom
dgn-void:ctd_human-20150221
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:37:56+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}