Property talk:P2293

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genetic association
general link between a disease and the causal genetic entity, if the detailed mechanism is unknown/unavailable

Represents	genetic association (Q744727)
Data type	Item
Template parameter	Will be used in a new 'disease/genetic association' parameter in the GeneWiki info box.
Domain	According to this template: genes and diseases According to statements in the property: gene (Q7187) or disease (Q12136) When possible, data should only be stored as statements
Allowed values	items with instance of (P31):gene (Q7187) and instance of (P31):disease (Q12136) (note: this should be moved to the property statements)
Example	schizophrenia (Q41112) → APOL2 (Q18037645) APOL2 (Q18037645) → schizophrenia (Q41112)
Source	http://www.chibi.ubc.ca/Gemma/neurocartaStatistics.html http://omim.org
Robot and gadget jobs	PBB disease bot will work with this property
Tracking: usage	Category:Pages using Wikidata property P2293 (Q113557566)
Lists	Items with the most statements of this property Count of items by number of statements (chart) Items with the most statements Items with the fewest statements Count of items by number of sitelinks (chart) Items with the most sitelinks Items with the most sitelinks, but no link to one Wikipedia (sample: Welsh Wikipedia, cywiki) Items with the fewest sitelinks Most linked wikis Items with the most identifier properties By value of property Most statements Fewest statements Most sitelinks Most linked wikis Total of sitelinks on items Most identifiers Fewest identifiers Items with no other statements Most recently created items Items with novalue claims Items with unknown value claims Usage history (total) Usage history (main statement) Chart by item creation date Database reports/Constraint violations/P2293 Map Random list
Proposal discussion	Proposal discussion
Current uses	Total 14,646 Main statement 14,644 >99.9% of uses Qualifier 2 <0.1% of uses
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[create Create a translatable help page (preferably in English) for this property to be included here]

Type “gene (Q7187), disease (Q12136)”: item must contain property “instance of (P31), subclass of (P279)” with classes “gene (Q7187), disease (Q12136)” or their subclasses (defined using subclass of (P279)). (Help)

Exceptions are possible as rare values may exist. Exceptions can be specified using exception to constraint (P2303).
List of violations of this constraint: Database reports/Constraint violations/P2293#Type Q7187, Q12136, SPARQL

Symmetric property: if [item A] has this property linked to [item B], then [item B] should also have this property linked to [item A]. (Help)

Exceptions are possible as rare values may exist. Exceptions can be specified using exception to constraint (P2303).
List of violations of this constraint: Database reports/Constraint violations/P2293#Symmetric, SPARQL

Scope is as main value (Q54828448): the property must be used by specified way only (Help)

List of violations of this constraint: Database reports/Constraint violations/P2293#Scope, hourly updated report, SPARQL

Citation needed: the property must have at least one reference (Help)

Exceptions are possible as rare values may exist. Exceptions can be specified using exception to constraint (P2303).
List of violations of this constraint: Database reports/Constraint violations/P2293#citation needed

This property is being used by: hy:Կաղապար:Տեղեկաքարտ Ֆերմենտ eu:Txantiloi:Gaixotasun infotaula, eu:Txantiloi:Gene infotaula automatikoa ca:Plantilla:Infotaula malaltia, ca:Plantilla:Infotaula malaltia/vell din:Macuëc:Disease ts:Template:Infobox medical condition Please notify projects that use this property before big changes (renaming, deletion, merge with another property, etc.)

I am afraid of this property

I am somewhat afraid of this property: Loads of genetic associations studies are found not to reproduce, - at least in personality genetics I know a little about. I can already see that a doubtful association has been suggested as a Wikidata property example (P1855) for the property. When I search szgene.org I can find no proper association. A single study is listed Association of SNPs and haplotypes in APOL1, 2 and 4 with schizophrenia "Although our study is not definitive...". PubMed shows only two papers on the APOL2-schizophrenia combination http://www.ncbi.nlm.nih.gov/pubmed/?term=APOL2+AND+schizophrenia Solid meta-analyses are required. Looking at http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOL2 its seems that Gene Card is out of its wits. Where on earth does "Diseases associated with APOL2 include schizophrenia" comes from? Citation needed! — Finn Årup Nielsen (fnielsen) (talk) 17:35, 16 November 2015 (UTC)

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@Sebotic: Can anybody answer the question Fnielsen asks? Mbch331 (talk) 17:41, 16 November 2015 (UTC)

Note that I am not saying that the Wikidata property (Q18616576) should be removed. It does have merit, example (Q14944328): APOE (Q14890468) and Alzheimer's disease (Q11081) are obvious with AlzGene now showing an odds ratio (Q1862216) on 3.68. I am just afraid that the genetic association (P2293) can be used indiscriminately. — Finn Årup Nielsen (fnielsen) (talk) 12:23, 19 November 2015 (UTC)

LOL, I just came here to warn about usage of this property. I would agree with removal. Speaking as long-time reactome.org biocurator. --SCIdude (talk) 09:31, 12 October 2021 (UTC)

• I've added a citation needed constraint (Q54554025) restriction to try and improve usage. I agree we should be cautious. TiagoLubiana (talk) 13:47, 29 September 2022 (UTC)

Change name and definition to broaden scope and clarify

Maybe we could improve this property to:

• 1 - include non-disease traits and phenotypes (e.g. body height, https://www.ebi.ac.uk/gwas/efotraits/EFO_0004339)
• 2 - somehow show that the results are subject to change

If there are no objections, I'll change the descriptors to:

• Label (en) : reported genetic association
• Description (en) : a reported causal link between a phenotype and genetic entity. Reported links considered false by more robust studies should be moved to the deprecated rank.

Note that the change will not require removal of any current statements.

Thoughts are very welcome! @Fnielsen, SCIdude, Sebotic, Gtsulab, juleong, Emitraka: TiagoLubiana (talk) 13:45, 29 September 2022 (UTC)