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

See these related core endpoints for full statistics:

Other hyperphenylalaninaemias

E4_HYPERPHENYLNAS

Endpoint definition

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 E70.1
  • Cause of death: ICD-10 E70.1

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

8

4. Check minimum number of events

None

8

5. Include endpoints

None

8

6. Filter based on genotype QC (FinnGen only)

8

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 E70
Name in latin Aliae hyperphenylalaninaemiae

Case counts by codes

FinnGen case counts by registry codes:

Not enough data for upset plot.

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 65 30 33
Only index persons 50 22 28
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 47.72 53.10 42.04
Only index persons 50.72 55.55 46.93

-FinnGen-

Key figures

All Female Male
Number of individuals 8 - 6
Unadjusted period prevalence (%) 0.00 - 0.00
Median age at first event (years) 62.17 - 61.65

-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

Association

Association between endpoint E4_HYPERPHENYLNAS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_HYPERPHENYLNAS.

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

Index endpoint: E4_HYPERPHENYLNAS – Other hyperphenylalaninaemias

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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