@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o
> .
@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/
> .
dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_head
{
this:
np:hasAssertion
dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_assertion
;
np:hasProvenance
dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_provenance
;
np:hasPublicationInfo
dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_assertion
a
np:Assertion
.
dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_provenance
a
np:Provenance
.
dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_assertion
{
miriam-gene:3508
a
ncit:C16612
.
lld:C1858517
a
ncit:C7057
.
dgn-gda:DGNf6500d76a4175019a23f320003b95a76
sio:SIO_000628
miriam-gene:3508
,
lld:C1858517
;
a
sio:SIO_001123
.
}
dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_provenance
{
dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_assertion
dcterms:description
"[Mutations in CMT2 were predicted to be less aggressive as compared to those in SMARD1, and fibroblast and lymphoblast studies indicate that the IGHMBP2 protein levels are significantly higher in CMT2 than SMARD1, but lower than controls, suggesting that the clinical phenotype differences are related to the IGHMBP2 protein levels.]. 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:25439726
;
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 .
}
dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:08+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}