@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP432828.RA1INRsvN8PAqZGYRDm18OQWksu2MfZiusToB1XQKq9iE
> .
@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:NP432828.RA1INRsvN8PAqZGYRDm18OQWksu2MfZiusToB1XQKq9iE130_head
{
this:
np:hasAssertion
dgn-np:NP432828.RA1INRsvN8PAqZGYRDm18OQWksu2MfZiusToB1XQKq9iE130_assertion
;
np:hasProvenance
dgn-np:NP432828.RA1INRsvN8PAqZGYRDm18OQWksu2MfZiusToB1XQKq9iE130_provenance
;
np:hasPublicationInfo
dgn-np:NP432828.RA1INRsvN8PAqZGYRDm18OQWksu2MfZiusToB1XQKq9iE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP432828.RA1INRsvN8PAqZGYRDm18OQWksu2MfZiusToB1XQKq9iE130_assertion
a
np:Assertion
.
dgn-np:NP432828.RA1INRsvN8PAqZGYRDm18OQWksu2MfZiusToB1XQKq9iE130_provenance
a
np:Provenance
.
dgn-np:NP432828.RA1INRsvN8PAqZGYRDm18OQWksu2MfZiusToB1XQKq9iE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP432828.RA1INRsvN8PAqZGYRDm18OQWksu2MfZiusToB1XQKq9iE130_assertion
{
miriam-gene:213
a
ncit:C16612
.
lld:C0342185
a
ncit:C7057
.
dgn-gda:DGN2be9408a353856d67eae7d4089219324
sio:SIO_000628
miriam-gene:213
,
lld:C0342185
;
a
sio:SIO_001121
.
}
dgn-np:NP432828.RA1INRsvN8PAqZGYRDm18OQWksu2MfZiusToB1XQKq9iE130_provenance
{
dgn-np:NP432828.RA1INRsvN8PAqZGYRDm18OQWksu2MfZiusToB1XQKq9iE130_assertion
dcterms:description
"[Two distinct genotypes that result in the amino acid substitutions R218P and R218H in subdomain 2A of human serum albumin (HSA) have been identified as the cause of familial dysalbuminemic hyperthyroxinemia (FDH).]. 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:10728776
;
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:NP432828.RA1INRsvN8PAqZGYRDm18OQWksu2MfZiusToB1XQKq9iE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:16+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" .
}