データセット詳細

GGDonto

GGDonto is the Ontology of the Genetic Diseases related to the Glycan Metabolism. GGDonto describes the knowledge about Congenital Disorders of Glycosylation (CDG) and Lysosomal Storage Diseases (LSD). GGDonto provides the information on 120 genetic diseases of the glycan synthesis and the degradation and their causative genes.

データセット仕様

タグ	Other biomolecule Health/Disease Gene Ontology/Terminology/Nomenclature Interaction/Pathway
提供元	Original
登録区分	Submitted
データ提供者	Glycoscience and Glycotechnology Research Group, Biotechnology Research Institute for Drug Discovery, National Institute of Advanced Industrial Science and Technology (AIST)
作成者	Hisashi NarimatsuGlycoscience and Glycotechnology Research Group, Biotechnology Research Institute for Drug Discovery, National Institute of Advanced Industrial Science and Technology (AIST) Toshihide ShikanaiGlycoscience and Glycotechnology Research Group, Biotechnology Research Institute for Drug Discovery, National Institute of Advanced Industrial Science and Technology (AIST) Elena SolovievaGlycoscience and Glycotechnology Research Group, Biotechnology Research Institute for Drug Discovery, National Institute of Advanced Industrial Science and Technology (AIST) Noriaki FujitaGlycoscience and Glycotechnology Research Group, Biotechnology Research Institute for Drug Discovery, National Institute of Advanced Industrial Science and Technology (AIST)
公開日	2017-01-25
ライセンス	Attribution-NonCommercial-ShareAlike 2.1 Japan (CC BY-NC-SA 2.1)
バージョン	v.1.0
ダウンロード	https://rdfportal.org/download/ggdonto
SPARQLエンドポイント	https://rdfportal.org/primary/sparql

データセット統計

Triples: 39518

Subjects: 1783

Properties: 918

Objects: 9080

Classes: 20

SPARQLクエリ例

例 1

エンドポイントで実行

### List the preferred names and synonyms for diseases which are the Congenital Disorders of Glycosylation ###
prefix ggdsch: <http://jcggdb.jp/rdf/diseases/ggdonto-schema#>

select distinct ?preferred_name ?synonym
from <http://jcggdb.jp/rdf/diseases/ggdonto>
where {
 ?disease_uri a ggdsch:DiseaseDescriptionGGDonto .
 ?disease_uri ggdsch:diseaseType ggdsch:CDG .
 ?disease_uri ggdsch:diseasePreferredTerm ?preferred_name.
 OPTIONAL {
  ?disease_uri ggdsch:diseasePreferredTerm ?preferred_name.
  ?disease_uri ggdsch:diseaseSynonyms ?synonym.
  FILTER ( lang(?preferred_name) = lang(?synonym) )
 }
}
order by ?preferred_name ?synonym

例 2

エンドポイントで実行

### Get the symptoms of a disease for which the UMLS CUI (Concept Unique Identifier from Unified Medical Language System) is 'C2931008' ###
prefix skos: <http://www.w3.org/2004/02/skos/core#>
prefix ggdsch: <http://jcggdb.jp/rdf/diseases/ggdonto-schema#>
prefix gmsch: <http://jcggdb.jp/rdf/diseases/gmncbi-schema#>

select distinct ?manifestation 
from <http://jcggdb.jp/rdf/diseases/ggdonto>
where {
 ?disease_uri a ggdsch:DiseaseDescriptionGGDonto .
 ?disease_uri ggdsch:umlsCUI "C2931008".
?disease_uri gmsch:hasManifestation ?manifestation_uri .
 ?manifestation_uri skos:prefLabel ?manifestation .
}

例 3

エンドポイントで実行

### Get the references for a disease which has the name or aliases like 'CDG-IIa' ###
prefix skos: <http://www.w3.org/2004/02/skos/core#>
prefix ggdsch: <http://jcggdb.jp/rdf/diseases/ggdonto-schema#>

select distinct ?reference
from <http://jcggdb.jp/rdf/diseases/ggdonto>
where {
 ?disease_uri a ggdsch:DiseaseDescriptionGGDonto.
 {?disease_uri skos:prefLabel  "CDG-IIa"@en.}
 UNION
 {?disease_uri skos:altLabel "CDG-IIa"@en.}
 ?disease_uri ggdsch:referencesInfo ?reference.
}

スキーマ図