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Mitochondrial myopathy

DOID EFO Endpoint Browser PheWeb

G6_MITOCMY

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 — G71.3
  • Cause of death: ICD-10 — G71.3

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

110

4. Check minimum number of events

None

110

5. Include endpoints

None

110

6. Filter based on genotype QC (FinnGen only)

104

Control definitions (FinnGen only)

Control exclude G6_MYONEU

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 G71
Name in latin Myopathia mitochondrialis non alibi classificata

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 856 465 387
Only index persons 696 388 308
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 46.83 50.41 42.39
Only index persons 46.69 49.89 42.65

-FinnGen-

Key figures

All Female Male
Number of individuals 104 62 42
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 48.67 48.64 48.73

-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: G6_MITOCMY – Mitochondrial myopathy

GWS hits: 5

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