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This is a non-core endpoint: only basic statistics are computed.

See these related core endpoints for full statistics:

Disorders of aromatic amino-acid metabolism, other/unspecified

DOID Endpoint Browser

E4_AROMAMINONAS

Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

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

Registry filters:

  • Hospital discharge: ICD-10 — E70.8, E70.9
  • Hospital discharge: ICD-9 — 2702
  • Hospital discharge: excluded ICD-9 — 2702A
  • Cause of death: ICD-10 — E70.8, E70.9
  • Cause of death: ICD-9 — 2702
  • Cause of death: excluded ICD-9 — 2702A

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

20

4. Check minimum number of events

None

20

5. Include endpoints

None

20

6. Filter based on genotype QC (FinnGen only)

19

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2

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 227 111 116
Only index persons 189 92 97
Unadjusted period prevalence (%)
Whole population 0.00 0.00 0.00
Only index persons 0.00 0.00 0.00
Median age at first event (years)
Whole population - 68.45 60.81
Only index persons 63.74 67.30 60.37

-FinnGen-

Key figures

All Female Male
Number of individuals 19 11 8
Unadjusted period prevalence (%) 0.00 0.00 0.00
Median age at first event (years) 62.53 60.06 65.94

-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

No data

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

Mortality – FinRegistry

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Association

Association between endpoint E4_AROMAMINONAS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_AROMAMINONAS.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

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Index endpoint: E4_AROMAMINONAS – Disorders of aromatic amino-acid metabolism, other/unspecified

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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