@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP664410.RAPLIc810esWnXqYJnnpf0KGnaSiq6Pzn_ouuckuxHMO0
> .
@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:NP664410.RAPLIc810esWnXqYJnnpf0KGnaSiq6Pzn_ouuckuxHMO0130_head
{
this:
np:hasAssertion
dgn-np:NP664410.RAPLIc810esWnXqYJnnpf0KGnaSiq6Pzn_ouuckuxHMO0130_assertion
;
np:hasProvenance
dgn-np:NP664410.RAPLIc810esWnXqYJnnpf0KGnaSiq6Pzn_ouuckuxHMO0130_provenance
;
np:hasPublicationInfo
dgn-np:NP664410.RAPLIc810esWnXqYJnnpf0KGnaSiq6Pzn_ouuckuxHMO0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP664410.RAPLIc810esWnXqYJnnpf0KGnaSiq6Pzn_ouuckuxHMO0130_assertion
a
np:Assertion
.
dgn-np:NP664410.RAPLIc810esWnXqYJnnpf0KGnaSiq6Pzn_ouuckuxHMO0130_provenance
a
np:Provenance
.
dgn-np:NP664410.RAPLIc810esWnXqYJnnpf0KGnaSiq6Pzn_ouuckuxHMO0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP664410.RAPLIc810esWnXqYJnnpf0KGnaSiq6Pzn_ouuckuxHMO0130_assertion
{
miriam-gene:2158
a
ncit:C16612
.
lld:C0005779
a
ncit:C7057
.
dgn-gda:DGN16d6f0e04c2932012e5040606fc016bf
sio:SIO_000628
miriam-gene:2158
,
lld:C0005779
;
a
sio:SIO_001121
.
}
dgn-np:NP664410.RAPLIc810esWnXqYJnnpf0KGnaSiq6Pzn_ouuckuxHMO0130_provenance
{
dgn-np:NP664410.RAPLIc810esWnXqYJnnpf0KGnaSiq6Pzn_ouuckuxHMO0130_assertion
dcterms:description
"[Mutations in human coagulation factor IX cause an X-linked bleeding disorder Hemophilia B, which can be classified as severe, moderately severe and mild based on the plasma levels of factor IX among affected individuals with respect to normal factor IX activity assayed in the patients' plasma (<1%, 2-5%, 6-30%, respectively).]. 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:18393396
;
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:NP664410.RAPLIc810esWnXqYJnnpf0KGnaSiq6Pzn_ouuckuxHMO0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:46+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" .
}