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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 amino-acid transport

DOID Endpoint Browser

E4_AMINOTRANSPORT

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 — E72.0
  • Hospital discharge: ICD-9 — 2700
  • Hospital discharge: ICD-8 — 270[1-3]
  • Cause of death: ICD-10 — E72.0
  • Cause of death: ICD-9 — 2700
  • Cause of death: ICD-8 — 270[1-3]

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

50

4. Check minimum number of events

None

50

5. Include endpoints

None

50

6. Filter based on genotype QC (FinnGen only)

48

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 E72
Name in latin Perturbationes transportationis acidorum aminoicorum

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 504 254 247
Only index persons 411 212 199
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 46.24 47.45 44.84
Only index persons 47.91 49.69 46.01

-FinnGen-

Key figures

All Female Male
Number of individuals 48 20 28
Unadjusted period prevalence (%) 0.01 0.01 0.02
Median age at first event (years) 49.93 40.59 56.59

-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

Not a core endpoint, no data to show.

Mortality – FinRegistry

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Relationships between endpoints

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Index endpoint: E4_AMINOTRANSPORT – Disorders of amino-acid transport

GWS hits: -

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