@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY
> .
@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:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_head
{
this:
np:hasAssertion
dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_assertion
;
np:hasProvenance
dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_provenance
;
np:hasPublicationInfo
dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_assertion
a
np:Assertion
.
dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_provenance
a
np:Provenance
.
dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_assertion
{
miriam-gene:4693
a
ncit:C16612
.
lld:C0266526
a
ncit:C7057
.
dgn-gda:DGN38d1717283b31abb69ccd5462aa34687
sio:SIO_000628
miriam-gene:4693
,
lld:C0266526
;
a
sio:SIO_001122
.
}
dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_provenance
{
dgn-np:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_assertion
dcterms:description
"[Mutation analysis of the ND gene (NDP) revealed two different novel missense mutations (L16P and S75P) that co-segregated with ND in each family, suggesting that the newly appearing proline at codon 16 or codon 75 alters the conformation of the ND protein and contributes to the severe phenotype of ND in each family.]. 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:11337749
;
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:NP1397.RAr3exsGnNimAw-506tZN9N8CNp9dCBJTzcRaoVAsy0lY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:50+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
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}