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

Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism

E4_BRANCHAMINOFATAC

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 E71
  • Cause of death: ICD-10 E71

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

-

4. Check minimum number of events

None

-

5. Include endpoints

41

6. Filter based on genotype QC (FinnGen only)

37

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E70-E90
Name in latin Perturbationes metabolismi acidorum aminoicorum cum catenis ramosis et acidorum lipidicorum

Similar endpoints

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 385 180 205
Only index persons 278 139 139
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population - 28.25 29.73
Only index persons 37.55 38.78 36.31

-FinnGen-

Key figures

All Female Male
Number of individuals 37 18 19
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 59.44 48.77 69.54

-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_BRANCHAMINOFATAC and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_BRANCHAMINOFATAC.

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_BRANCHAMINOFATAC – Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism

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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