@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP413586.RAphIcZCmXp777TFYIsyVYJSp3rd4FThWtH9dqfQvQey8
> .
@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:NP413586.RAphIcZCmXp777TFYIsyVYJSp3rd4FThWtH9dqfQvQey8130_head
{
this:
np:hasAssertion
dgn-np:NP413586.RAphIcZCmXp777TFYIsyVYJSp3rd4FThWtH9dqfQvQey8130_assertion
;
np:hasProvenance
dgn-np:NP413586.RAphIcZCmXp777TFYIsyVYJSp3rd4FThWtH9dqfQvQey8130_provenance
;
np:hasPublicationInfo
dgn-np:NP413586.RAphIcZCmXp777TFYIsyVYJSp3rd4FThWtH9dqfQvQey8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP413586.RAphIcZCmXp777TFYIsyVYJSp3rd4FThWtH9dqfQvQey8130_assertion
a
np:Assertion
.
dgn-np:NP413586.RAphIcZCmXp777TFYIsyVYJSp3rd4FThWtH9dqfQvQey8130_provenance
a
np:Provenance
.
dgn-np:NP413586.RAphIcZCmXp777TFYIsyVYJSp3rd4FThWtH9dqfQvQey8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP413586.RAphIcZCmXp777TFYIsyVYJSp3rd4FThWtH9dqfQvQey8130_assertion
{
miriam-gene:4000
a
ncit:C16612
.
lld:C1720860
a
ncit:C7057
.
dgn-gda:DGNd602907fbbbe62c068860deced8f8ffb
sio:SIO_000628
miriam-gene:4000
,
lld:C1720860
;
a
sio:SIO_001121
.
}
dgn-np:NP413586.RAphIcZCmXp777TFYIsyVYJSp3rd4FThWtH9dqfQvQey8130_provenance
{
dgn-np:NP413586.RAphIcZCmXp777TFYIsyVYJSp3rd4FThWtH9dqfQvQey8130_assertion
dcterms:description
"[Genetic forms of partial lipodystrophy are currently recognized as two syndromes with subcutaneous lipoatrophy but preserved or increased fat at the level of face and neck (Dunnigan syndrome or FPLD due to LMNA mutations) and/or abdomen (PPARgamma-linked forms) and are both transmitted as dominant diseases.]. 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:15773753
;
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:NP413586.RAphIcZCmXp777TFYIsyVYJSp3rd4FThWtH9dqfQvQey8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:05+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" .
}