@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP830350.RAeWE4RTkF9oOKY1lCOscrScR1rsCUwxgzw13FMD8fE-4
> .
@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:NP830350.RAeWE4RTkF9oOKY1lCOscrScR1rsCUwxgzw13FMD8fE-4130_head
{
this:
np:hasAssertion
dgn-np:NP830350.RAeWE4RTkF9oOKY1lCOscrScR1rsCUwxgzw13FMD8fE-4130_assertion
;
np:hasProvenance
dgn-np:NP830350.RAeWE4RTkF9oOKY1lCOscrScR1rsCUwxgzw13FMD8fE-4130_provenance
;
np:hasPublicationInfo
dgn-np:NP830350.RAeWE4RTkF9oOKY1lCOscrScR1rsCUwxgzw13FMD8fE-4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP830350.RAeWE4RTkF9oOKY1lCOscrScR1rsCUwxgzw13FMD8fE-4130_assertion
a
np:Assertion
.
dgn-np:NP830350.RAeWE4RTkF9oOKY1lCOscrScR1rsCUwxgzw13FMD8fE-4130_provenance
a
np:Provenance
.
dgn-np:NP830350.RAeWE4RTkF9oOKY1lCOscrScR1rsCUwxgzw13FMD8fE-4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP830350.RAeWE4RTkF9oOKY1lCOscrScR1rsCUwxgzw13FMD8fE-4130_assertion
{
miriam-gene:1056
a
ncit:C16612
.
lld:C0019247
a
ncit:C7057
.
dgn-gda:DGN9279ec9bb60f97572ea1db3276402ddd
sio:SIO_000628
miriam-gene:1056
,
lld:C0019247
;
a
sio:SIO_001121
.
}
dgn-np:NP830350.RAeWE4RTkF9oOKY1lCOscrScR1rsCUwxgzw13FMD8fE-4130_provenance
{
dgn-np:NP830350.RAeWE4RTkF9oOKY1lCOscrScR1rsCUwxgzw13FMD8fE-4130_assertion
dcterms:description
"[Familial amyloid polyneuropathy (FAP; also known as familiar amyloidosis and hereditary amyloidosis) is an autosomal dominant inherited disease due to mutations of the transthyretin (TTR) gene coding for the corresponding protein, consisting of 127 amino acids.]. 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:23797140
;
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:NP830350.RAeWE4RTkF9oOKY1lCOscrScR1rsCUwxgzw13FMD8fE-4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:28+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" .
}