Phenotypic Feature - Gene KCNMA1 (HGNC:6284)

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Materials and tools for testing Translator components

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Phenotypic Feature - Gene KCNMA1 (HGNC:6284) #70

Open sstemann opened 3 years ago

sstemann commented 3 years ago

Query: kcnma1.json PK: 91a60bea-cbe7-40c9-be24-ef1a2f604b93 HGNC: 6284 Control: Paroxysmal Nonkinesigenic Dyskinesia (drop attacks) and/or Gene-Phenotype Relationships from OMIM Results Tracking Sheet

Results from: Expander Agent - ARAX Exploring Agent - BTE Genetics KP Unsecret Agent Exposures - CAM KP

CaseyTa commented 3 years ago

@sstemann, I think the PK listed at the top is the CAM specific message ID

sstemann commented 3 years ago

@CaseyTa @dkoslicki apologies, we were having paste issues: 91a60bea-cbe7-40c9-be24-ef1a2f604b93

marcdubybroad commented 3 years ago

The three traits that the Genetics KP carries and found statistically significant associations with the KCNMA1 gene are:

BMI (metabolic)
P-wave duration (ECG/heart trait)
Force expired volume in 1s (lung trait)

marcdubybroad commented 3 years ago

If add in diseases, the Genetics KP also returns: "MONDO:0032827": { "name": "Epilepsy, idiopathic generalized, susceptibility to, 16" }, "MONDO:0032886": { "name": "Liang-Wang syndrome" }, "MONDO:0060551": { "name": "Cerebellar atrophy, developmental delay, and seizures" }

sstemann commented 3 years ago

I reran the query with DiseaseOrPhenotypicFeature (https://github.com/NCATSTranslator/testing/blob/main/ars-requests/not-none/1.1/kcnma1DiseaseOrFeature.json), PK: e8fc474f-ee73-4a5c-a024-c051680f3b88

Looks like results improved for Unsecret Agent, Genetics KP, imProve Agent and BTE:

@cbizon @webyrd @brettasmi @marcdubybroad @andrewsu @colleenXu , but looks like Unsecret results and Improve results still aren't the control