@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP236747.RAMiF-Vnab9f15RYjEQdpt5wTkBMESgsdlf3K_5fLhPRk
> .
@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:NP236747.RAMiF-Vnab9f15RYjEQdpt5wTkBMESgsdlf3K_5fLhPRk130_head
{
this:
np:hasAssertion
dgn-np:NP236747.RAMiF-Vnab9f15RYjEQdpt5wTkBMESgsdlf3K_5fLhPRk130_assertion
;
np:hasProvenance
dgn-np:NP236747.RAMiF-Vnab9f15RYjEQdpt5wTkBMESgsdlf3K_5fLhPRk130_provenance
;
np:hasPublicationInfo
dgn-np:NP236747.RAMiF-Vnab9f15RYjEQdpt5wTkBMESgsdlf3K_5fLhPRk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP236747.RAMiF-Vnab9f15RYjEQdpt5wTkBMESgsdlf3K_5fLhPRk130_assertion
a
np:Assertion
.
dgn-np:NP236747.RAMiF-Vnab9f15RYjEQdpt5wTkBMESgsdlf3K_5fLhPRk130_provenance
a
np:Provenance
.
dgn-np:NP236747.RAMiF-Vnab9f15RYjEQdpt5wTkBMESgsdlf3K_5fLhPRk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP236747.RAMiF-Vnab9f15RYjEQdpt5wTkBMESgsdlf3K_5fLhPRk130_assertion
{
miriam-gene:3077
a
ncit:C16612
.
lld:C0240066
a
ncit:C7057
.
dgn-gda:DGNc32cd5db4520bf890c4a9d081ff6caf9
sio:SIO_000628
miriam-gene:3077
,
lld:C0240066
;
a
sio:SIO_001121
.
}
dgn-np:NP236747.RAMiF-Vnab9f15RYjEQdpt5wTkBMESgsdlf3K_5fLhPRk130_provenance
{
dgn-np:NP236747.RAMiF-Vnab9f15RYjEQdpt5wTkBMESgsdlf3K_5fLhPRk130_assertion
dcterms:description
"[These analyses indicate that (i) HC patients with two copies of the ancestral haplotype show significantly more severe expression of the disorder than those with one copy or those without, (ii) HC heterozygotes have partial clinical expression, which may be influenced by the presence of the ancestral haplotype in females but not in males, and (iii) the high population frequency of the HC gene may be the result of the selective advantage conferred by protecting heterozygotes against iron deficiency.]. 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:7668262
;
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:NP236747.RAMiF-Vnab9f15RYjEQdpt5wTkBMESgsdlf3K_5fLhPRk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:12+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" .
}