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Myotonic disorders

DOID EFO Endpoint Browser PheWeb

G6_MYOTDIS

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 — G71.1
  • Hospital discharge: ICD-9 — 3592A
  • Hospital discharge: ICD-8 — 33020
  • Cause of death: ICD-10 — G71.1
  • Cause of death: ICD-9 — 3592A
  • Cause of death: ICD-8 — 33020

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

259

4. Check minimum number of events

None

259

5. Include endpoints

None

259

6. Filter based on genotype QC (FinnGen only)

247

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 Morbositates myotonicae

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 2311 1166 1126
Only index persons 1965 1019 946
Unadjusted period prevalence (%)
Whole population 0.03 0.03 0.03
Only index persons 0.04 0.04 0.04
Median age at first event (years)
Whole population 44.33 44.69 43.83
Only index persons 43.13 43.84 42.36

-FinnGen-

Key figures

All Female Male
Number of individuals 247 143 104
Unadjusted period prevalence (%) 0.05 0.06 0.05
Median age at first event (years) 48.22 48.25 48.19

-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

No data

Mortality – FinRegistry

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Association

Association between endpoint G6_MYOTDIS and mortality.

Females

Parameter HR [95% CI] p-value
G6_MYOTDIS 3.443 [2.74, 4.32] < 0.001
Birth year 0.991 [0.98, 1.0] 0.048

During the follow-up period (1.1.1998 — 31.12.2019), 168 out of 957 females with G6_MYOTDIS died.

Males

Parameter HR [95% CI] p-value
G6_MYOTDIS 3.471 [2.87, 4.19] < 0.001
Birth year 0.99 [0.98, 1.0] 0.069

During the follow-up period (1.1.1998 — 31.12.2019), 219 out of 898 males with G6_MYOTDIS died.

Mortality risk

Mortality risk for people of age

years, who have G6_MYOTDIS.

N-year risk Females Males
1 0.244% 0.863%
5 1.687% 4.271%
10 4.616% 10.427%
15 8.129% 20.038%
20 13.812% 32.6%

Relationships between endpoints

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Index endpoint: G6_MYOTDIS – Myotonic disorders

GWS hits: 18

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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