id
stringclasses 5
values | genotype_context
stringclasses 4
values | phenotype_label
stringclasses 5
values | phenotype_definition
stringclasses 5
values | measurement_source
stringclasses 5
values | stability_over_time
stringclasses 3
values | proxy_flags
stringclasses 4
values | biological_validity_assessment
stringclasses 5
values | downstream_model_risk
stringclasses 5
values | notes
stringclasses 5
values | constraints
stringclasses 1
value | gold_checklist
stringclasses 1
value |
|---|---|---|---|---|---|---|---|---|---|---|---|
PDI-001
|
PRS
|
Depression
|
SSRI prescription within 12 months
|
EHR prescription data
|
Low
|
Medication as proxy
|
Heterogeneous; non-specific
|
irreproducible associations
|
Classic proxy phenotype
|
Under 220 words.
|
definition+proxy+risk
|
PDI-002
|
rare_variant
|
Epilepsy
|
Single ICD-10 code
|
Administrative coding
|
Low
|
Billing proxy
|
Poor biological specificity
|
false genetic signals
|
ICD misuse
|
Under 220 words.
|
definition+proxy+risk
|
PDI-003
|
LoF gene
|
Hypercholesterolemia
|
LDL >190 mg/dL on 2 occasions
|
Lab measurements
|
High
| null |
Biologically grounded
|
stable modeling
|
Good phenotype
|
Under 220 words.
|
definition+proxy+risk
|
PDI-004
|
GWAS
|
Asthma
|
Self-reported diagnosis
|
Questionnaire
|
Medium
|
Self-report bias
|
Variable construct
|
noise amplification
|
Survey instability
|
Under 220 words.
|
definition+proxy+risk
|
PDI-005
|
PRS
|
Obesity
|
BMI >30
|
Anthropometrics
|
Medium
|
BMI as proxy
|
Partial metabolic signal
|
context-dependent risk
|
BMI collapse
|
Under 220 words.
|
definition+proxy+risk
|
Names when the phenotype itself is unstable.
This is where replication fails
because the trait was never coherent.
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