@prefix dct: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP2358.RAPwHqLzvQ6_ZDSr0gxGR61aZl4-F4PxrrW4iAnZH9cmw
> .
@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 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:NP2358.RAPwHqLzvQ6_ZDSr0gxGR61aZl4-F4PxrrW4iAnZH9cmw130_head
{
this:
np:hasAssertion
dgn-np:NP2358.RAPwHqLzvQ6_ZDSr0gxGR61aZl4-F4PxrrW4iAnZH9cmw130_assertion
;
np:hasProvenance
dgn-np:NP2358.RAPwHqLzvQ6_ZDSr0gxGR61aZl4-F4PxrrW4iAnZH9cmw130_provenance
;
np:hasPublicationInfo
dgn-np:NP2358.RAPwHqLzvQ6_ZDSr0gxGR61aZl4-F4PxrrW4iAnZH9cmw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP2358.RAPwHqLzvQ6_ZDSr0gxGR61aZl4-F4PxrrW4iAnZH9cmw130_assertion
a
np:Assertion
.
dgn-np:NP2358.RAPwHqLzvQ6_ZDSr0gxGR61aZl4-F4PxrrW4iAnZH9cmw130_provenance
a
np:Provenance
.
dgn-np:NP2358.RAPwHqLzvQ6_ZDSr0gxGR61aZl4-F4PxrrW4iAnZH9cmw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP2358.RAPwHqLzvQ6_ZDSr0gxGR61aZl4-F4PxrrW4iAnZH9cmw130_assertion
{
miriam-gene:6261
a
ncit:C16612
.
lld:C0024591
a
ncit:C7057
.
dgn-gda:DGNdd9c6873d09ef46b5c02994caf99e588
sio:SIO_000628
miriam-gene:6261
,
lld:C0024591
;
a
sio:SIO_001122
.
}
dgn-np:NP2358.RAPwHqLzvQ6_ZDSr0gxGR61aZl4-F4PxrrW4iAnZH9cmw130_provenance
{
dgn-np:NP2358.RAPwHqLzvQ6_ZDSr0gxGR61aZl4-F4PxrrW4iAnZH9cmw130_assertion
dct:description
"[Taking into account the usual dominant mode of transmission of MHS and the size of the investigated population, the authors propose an evaluation of the incidence of the MHS in the general population based on genetic data.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:12411788
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP2358.RAPwHqLzvQ6_ZDSr0gxGR61aZl4-F4PxrrW4iAnZH9cmw130_publicationInfo
{
this:
dct:created
"2016-05-13T12:41:51+02:00"^^
xsd:dateTime
;
dct:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dct:rightsHolder
dgn-void:IBIGroup
;
dct: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" .
}