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Achalasia of cardia

DOID EFO Endpoint Browser PheWeb

K11_ACHAL

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 — K22.0
  • Hospital discharge: ICD-9 — 5300
  • Hospital discharge: ICD-8 — 5300
  • Cause of death: ICD-10 — K22.0
  • Cause of death: ICD-9 — 5300
  • Cause of death: ICD-8 — 5300

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

600

4. Check minimum number of events

None

600

5. Include endpoints

None

600

6. Filter based on genotype QC (FinnGen only)

581

Control definitions (FinnGen only)

Control exclude K11_OESSTODUO

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 K22
Name in latin Achalasia cardiae

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 5195 2402 2748
Only index persons 4286 2011 2275
Unadjusted period prevalence (%)
Whole population 0.07 0.07 0.08
Only index persons 0.08 0.07 0.09
Median age at first event (years)
Whole population 56.29 57.84 54.84
Only index persons 53.34 54.74 52.09

-FinnGen-

Key figures

All Female Male
Number of individuals 581 287 294
Unadjusted period prevalence (%) 0.13 0.11 0.15
Median age at first event (years) 53.59 50.47 56.63

-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 K11_ACHAL and mortality.

Females

Parameter HR [95% CI] p-value
K11_ACHAL 1.679 [1.43, 1.97] < 0.001
Birth year 0.994 [0.99, 1.0] 0.159

During the follow-up period (1.1.1998 — 31.12.2019), 400 out of 1422 females with K11_ACHAL died.

Males

Parameter HR [95% CI] p-value
K11_ACHAL 1.729 [1.48, 2.03] < 0.001
Birth year 0.984 [0.97, 0.99] 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 597 out of 1737 males with K11_ACHAL died.

Mortality risk

Mortality risk for people of age

years, who have K11_ACHAL.

N-year risk Females Males
1 0.182% 0.257%
5 1.003% 1.676%
10 2.602% 4.449%
15 4.928% 8.826%
20 8.809% 15.009%

Relationships between endpoints

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Index endpoint: K11_ACHAL – Achalasia of cardia

GWS hits: 1

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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