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Gilbert syndrome

DOID EFO Endpoint Browser PheWeb

E4_GILBERT

Gilbert syndrome: An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — E80.4
  • Hospital discharge: ICD-9 — 2774A
  • Hospital discharge: ICD-8 — 27350
  • Cause of death: ICD-10 — E80.4
  • Cause of death: ICD-9 — 2774A
  • Cause of death: ICD-8 — 27350

2 out of 7 registries used, show all original rules.

215

4. Check minimum number of events

None

215

5. Include endpoints

None

215

6. Filter based on genotype QC (FinnGen only)

205

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E80
Name in latin Syndroma Gilbert

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 2080 758 1310
Only index persons 1976 732 1244
Unadjusted period prevalence (%)
Whole population 0.03 0.02 0.04
Only index persons 0.04 0.03 0.05
Median age at first event (years)
Whole population 35.03 37.47 33.51
Only index persons 34.37 36.95 32.86

-FinnGen-

Key figures

All Female Male
Number of individuals 205 88 117
Unadjusted period prevalence (%) 0.05 0.04 0.06
Median age at first event (years) 40.73 39.05 41.99

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

Mortality – FinRegistry

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Relationships between endpoints

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Index endpoint: E4_GILBERT – Gilbert syndrome

GWS hits: 1

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