@prefix dc: .
@prefix orcid: .
@prefix this: .
@prefix rdfs: .
@prefix xsd: .
@prefix sio: .
@prefix ncit: .
@prefix lld: .
@prefix miriam-gene: .
@prefix miriam-pubmed: .
@prefix eco: .
@prefix wi: .
@prefix prov: .
@prefix pav: .
@prefix prv: .
@prefix np: .
@prefix dgn-np: .
@prefix dgn-gda: .
@prefix dgn-void: .
dgn-np:NP2840.RA5DRAhraB2rRZq9pJxW7KQIECNaxGmAfY_3DNcOsOIJI130_head {
this: np:hasAssertion dgn-np:NP2840.RA5DRAhraB2rRZq9pJxW7KQIECNaxGmAfY_3DNcOsOIJI130_assertion;
np:hasProvenance dgn-np:NP2840.RA5DRAhraB2rRZq9pJxW7KQIECNaxGmAfY_3DNcOsOIJI130_provenance;
np:hasPublicationInfo dgn-np:NP2840.RA5DRAhraB2rRZq9pJxW7KQIECNaxGmAfY_3DNcOsOIJI130_publicationInfo;
a np:Nanopublication .
dgn-np:NP2840.RA5DRAhraB2rRZq9pJxW7KQIECNaxGmAfY_3DNcOsOIJI130_assertion a np:Assertion .
dgn-np:NP2840.RA5DRAhraB2rRZq9pJxW7KQIECNaxGmAfY_3DNcOsOIJI130_provenance a np:Provenance .
dgn-np:NP2840.RA5DRAhraB2rRZq9pJxW7KQIECNaxGmAfY_3DNcOsOIJI130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP2840.RA5DRAhraB2rRZq9pJxW7KQIECNaxGmAfY_3DNcOsOIJI130_assertion {
miriam-gene:7915 a ncit:C16612 .
lld:C0268631 a ncit:C7057 .
dgn-gda:DGN2901dc6cff8e0c32460d96e969b5c834 sio:SIO_000628 miriam-gene:7915, lld:C0268631;
a sio:SIO_001122 .
}
dgn-np:NP2840.RA5DRAhraB2rRZq9pJxW7KQIECNaxGmAfY_3DNcOsOIJI130_provenance {
dgn-np:NP2840.RA5DRAhraB2rRZq9pJxW7KQIECNaxGmAfY_3DNcOsOIJI130_assertion dc:description
"[Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.]. 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:11901270;
prov:wasDerivedFrom dgn-void:uniprot-20150221;
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-20150221 pav:importedOn "2015-02-21"^^xsd:date .
}
dgn-np:NP2840.RA5DRAhraB2rRZq9pJxW7KQIECNaxGmAfY_3DNcOsOIJI130_publicationInfo {
this: dc:created "2015-08-25T14:37:43+02:00"^^xsd:dateTime;
dc:rights ;
dc:rightsHolder dgn-void:IBIGroup;
dc: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 "v3.0.0.0" .
dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}