@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP850364.RAo914TqvhBzR0AbUT67L9SMi8aKJ1FI784LsyCf6WiVU
> .
@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/v3.0.0/void/
> .
dgn-np:NP850364.RAo914TqvhBzR0AbUT67L9SMi8aKJ1FI784LsyCf6WiVU130_head
{
this:
np:hasAssertion
dgn-np:NP850364.RAo914TqvhBzR0AbUT67L9SMi8aKJ1FI784LsyCf6WiVU130_assertion
;
np:hasProvenance
dgn-np:NP850364.RAo914TqvhBzR0AbUT67L9SMi8aKJ1FI784LsyCf6WiVU130_provenance
;
np:hasPublicationInfo
dgn-np:NP850364.RAo914TqvhBzR0AbUT67L9SMi8aKJ1FI784LsyCf6WiVU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP850364.RAo914TqvhBzR0AbUT67L9SMi8aKJ1FI784LsyCf6WiVU130_assertion
a
np:Assertion
.
dgn-np:NP850364.RAo914TqvhBzR0AbUT67L9SMi8aKJ1FI784LsyCf6WiVU130_provenance
a
np:Provenance
.
dgn-np:NP850364.RAo914TqvhBzR0AbUT67L9SMi8aKJ1FI784LsyCf6WiVU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP850364.RAo914TqvhBzR0AbUT67L9SMi8aKJ1FI784LsyCf6WiVU130_assertion
{
miriam-gene:10661
a
ncit:C16612
.
lld:C0011860
a
ncit:C7057
.
dgn-gda:DGNe59c12aae241c9affc27a1b5c5dfec96
sio:SIO_000628
miriam-gene:10661
,
lld:C0011860
;
a
sio:SIO_001121
.
}
dgn-np:NP850364.RAo914TqvhBzR0AbUT67L9SMi8aKJ1FI784LsyCf6WiVU130_provenance
{
dgn-np:NP850364.RAo914TqvhBzR0AbUT67L9SMi8aKJ1FI784LsyCf6WiVU130_assertion
dcterms:description
"[Lu(null) phenotype arises from homozygosity for inactivating mutations in the LU gene.The dominantly inherited Lu(mod) phenotype, In(Lu), results from heterozygosity for inactivating mutations in KLF1, the gene for the erythroid transcription binding factor EKLF.]. 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:20406022
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP850364.RAo914TqvhBzR0AbUT67L9SMi8aKJ1FI784LsyCf6WiVU130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:16+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: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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}