@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1351031.RAINWmh6_uy7U-KZQO62SvPoko0aNwR_9OuyjZ9dqaufQ
> .
@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:NP1351031.RAINWmh6_uy7U-KZQO62SvPoko0aNwR_9OuyjZ9dqaufQ130_head
{
this:
np:hasAssertion
dgn-np:NP1351031.RAINWmh6_uy7U-KZQO62SvPoko0aNwR_9OuyjZ9dqaufQ130_assertion
;
np:hasProvenance
dgn-np:NP1351031.RAINWmh6_uy7U-KZQO62SvPoko0aNwR_9OuyjZ9dqaufQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP1351031.RAINWmh6_uy7U-KZQO62SvPoko0aNwR_9OuyjZ9dqaufQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1351031.RAINWmh6_uy7U-KZQO62SvPoko0aNwR_9OuyjZ9dqaufQ130_assertion
a
np:Assertion
.
dgn-np:NP1351031.RAINWmh6_uy7U-KZQO62SvPoko0aNwR_9OuyjZ9dqaufQ130_provenance
a
np:Provenance
.
dgn-np:NP1351031.RAINWmh6_uy7U-KZQO62SvPoko0aNwR_9OuyjZ9dqaufQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1351031.RAINWmh6_uy7U-KZQO62SvPoko0aNwR_9OuyjZ9dqaufQ130_assertion
{
miriam-gene:3858
a
ncit:C16612
.
lld:C0037274
a
ncit:C7057
.
dgn-gda:DGNf8e95e25e5d39153b01494877d302bb0
sio:SIO_000628
miriam-gene:3858
,
lld:C0037274
;
a
sio:SIO_001122
.
}
dgn-np:NP1351031.RAINWmh6_uy7U-KZQO62SvPoko0aNwR_9OuyjZ9dqaufQ130_provenance
{
dgn-np:NP1351031.RAINWmh6_uy7U-KZQO62SvPoko0aNwR_9OuyjZ9dqaufQ130_assertion
dcterms:description
"[The most frequent mutation that causes the autosomal dominant skin disease epidermolytic hyperkeratosis (EHK) is an arginine to histidine substitution at position 10 in the 1A segment of the rod domain of keratin 10.]. 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:8648165
;
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:NP1351031.RAINWmh6_uy7U-KZQO62SvPoko0aNwR_9OuyjZ9dqaufQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:58+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" .
}