ClinGen variant pathogenicity (E63)
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| language code | label | description | aliases | edit |
|---|---|---|---|---|
| en | ClinGen variant pathogenicity | schema on genetic variants from ClinGen | edit | |
| ja | ClinGenにおけるバリアントの病原性 | ClinGenにおけるバリアントの病原性を記述するためのスキーマ | edit |
PREFIX wdt: <http://www.wikidata.org/prop/direct/>
PREFIX wd: <http://www.wikidata.org/entity/>
PREFIX p: <http://www.wikidata.org/prop/>
PREFIX ps: <http://www.wikidata.org/prop/statement>
PREFIX pq: <http://www.wikidata.org/prop/qualifier/>
PREFIX pr: <http://www.wikidata.org/prop/reference/>
PREFIX prov: <http://www.w3.org/ns/prov#>
PREFIX xsd: <http://www.w3.org/2001/XMLSchema#>
PREFIX erepo: <https://erepo.genome.network/evrepo/ui/classification/>
## UNDER DEVELOPMENT ##
## Schema proposal for Wikidata items on ClinGen variant pathogenicity data
## Wikidata Model: Q6440126
## source: https://erepo.genome.network/evrepo/ui/classification/CA114360/MONDO:0009861/006
## Github: https://github.com/SuLab/GeneWikiCentral/issues/117
start=@<#ClinGen_item>
<#ClinGen_item> {
p:P31 @<#P31_instance_of> ;
p:P1050 @<#P1050_medical_condition> ;
p:P1199 @<#P1199_mode_of_inheritance> ;
p:P1343 @<#P1343_described_by_source>+ ;
p:P3433 @<#P3433_biological_variant_of> ;
## Identifiers
p:P1929 @<#P1929_ClinVar_Variation_ID> ;
p:P3331 @<#P3331_HGVS_nomenclature>+ ;
}
<#P31_instance_of> {
ps:P31 [wd:Q15304597] ;
prov:wasDerivedFrom @<#clingen_reference> ;
}
<#P1050_medical_condition> {
ps:P1050 {wdt:P5270 .} ; # associated with medical condition that has a MonDO id
prov:wasDerivedFrom @<#clingen_reference> ;
}
<#P1199_mode_of_inheritance> {
ps:P1199 {wdt:P31 [wd:Q1348351] ;} ; # mode of inheritance which is an instance of (P31) of mode of inheritance (Q1348351)
prov:wasDerivedFrom @<#clingen_reference> ;
}
<#P1343_described_by_source> {
ps:P1343 {wdt:P698 xsd:string ;} ; # Described by source that also has a PubMed Id (P698)
prov:wasDerivedFrom @<#clingen_reference> ;
}
<#P1929_ClinVar_Variation_ID> {
ps:P1929 xsd:string ;
prov:wasDerivedFrom @<#clingen_reference> ;
}
<#P3331_HGVS_nomenclature> {
ps:P3331 xsd:string ;
prov:wasDerivedFrom @<#clingen_reference> ;
}
<#P3433_biological_variant_of> {
ps:P1343 {wdt:P31 [wd:Q7187] ;} ; # Biological variant of a gene (wd:Q7187)
prov:wasDerivedFrom @<#clingen_reference> ;
}
<#clingen_reference> {
pr:P248 [wd:Q64403342] ; # Stated in ClinGen
pr:P813 xsd:dateTime ;
pr:P854 [erepo:~]
}