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Other and unspecified myopathies

DOID EFO Endpoint Browser PheWeb

G6_MYOPOTHUNS

myopathy: a disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.

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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 — G72.8, G72.9
  • Hospital discharge: ICD-9 — 3594B|359[8-9]
  • Cause of death: ICD-10 — G72.8, G72.9
  • Cause of death: ICD-9 — 3594B|359[8-9]

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

2918

4. Check minimum number of events

None

2918

5. Include endpoints

None

2918

6. Filter based on genotype QC (FinnGen only)

2827

Control definitions (FinnGen only)

Control exclude G6_MYONEU

Extra metadata

Level in the ICD hierarchy 3
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 31284 13661 17471
Only index persons 28306 12682 15624
Unadjusted period prevalence (%)
Whole population 0.44 0.39 0.49
Only index persons 0.54 0.47 0.60
Median age at first event (years)
Whole population 68.48 74.18 64.03
Only index persons 68.82 74.39 64.29

-FinnGen-

Key figures

All Female Male
Number of individuals 2827 1144 1683
Unadjusted period prevalence (%) 0.69 0.45 0.85
Median age at first event (years) 64.27 63.55 64.76

-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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Association

Association between endpoint G6_MYOPOTHUNS and mortality.

Females

Parameter HR [95% CI] p-value
G6_MYOPOTHUNS 2.128 [1.88, 2.4] < 0.001
Birth year 0.995 [0.99, 1.0] 0.218

During the follow-up period (1.1.1998 — 31.12.2019), 4593 out of 11033 females with G6_MYOPOTHUNS died.

Males

Parameter HR [95% CI] p-value
G6_MYOPOTHUNS 3.28 [2.85, 3.77] < 0.001
Birth year 0.98 [0.97, 0.99] < 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 6141 out of 14096 males with G6_MYOPOTHUNS died.

Mortality risk

Mortality risk for people of age

years, who have G6_MYOPOTHUNS.

N-year risk Females Males
1 0.162% 0.382%
5 1.126% 2.7%
10 2.76% 7.574%
15 5.343% 13.817%
20 10.187% 21.645%

Relationships between endpoints

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Index endpoint: G6_MYOPOTHUNS – Other and unspecified myopathies

GWS hits: 3

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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