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Exophthalmic conditions

DOID EFO Endpoint Browser PheWeb

H7_EXOPTHALMUS

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 — H05.2
  • Hospital discharge: ICD-9 — 376[2-3]
  • Cause of death: ICD-10 — H05.2
  • Cause of death: ICD-9 — 376[2-3]

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

343

4. Check minimum number of events

None

343

5. Include endpoints

None

343

6. Filter based on genotype QC (FinnGen only)

328

Control definitions (FinnGen only)

Control exclude H7_LIDLACRIMALORBIT

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 H05
Name in latin Exophthalmus

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 2738 1729 982
Only index persons 2452 1594 858
Unadjusted period prevalence (%)
Whole population 0.04 0.05 0.03
Only index persons 0.05 0.06 0.03
Median age at first event (years)
Whole population 55.09 55.33 54.47
Only index persons 54.37 54.68 53.79

-FinnGen-

Key figures

All Female Male
Number of individuals 328 214 114
Unadjusted period prevalence (%) 0.07 0.08 0.06
Median age at first event (years) 51.94 51.87 52.09

-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 H7_EXOPTHALMUS and mortality.

Females

Parameter HR [95% CI] p-value
H7_EXOPTHALMUS 1.549 [1.32, 1.81] < 0.001
Birth year 0.995 [0.99, 1.0] 0.273

During the follow-up period (1.1.1998 — 31.12.2019), 278 out of 1435 females with H7_EXOPTHALMUS died.

Males

Parameter HR [95% CI] p-value
H7_EXOPTHALMUS 1.813 [1.45, 2.26] < 0.001
Birth year 0.984 [0.97, 0.99] < 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 235 out of 830 males with H7_EXOPTHALMUS died.

Mortality risk

Mortality risk for people of age

years, who have H7_EXOPTHALMUS.

N-year risk Females Males
1 0.196% 0.362%
5 1.061% 2.038%
10 2.346% 4.945%
15 4.535% 8.688%
20 7.683% 14.48%

Relationships between endpoints

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Index endpoint: H7_EXOPTHALMUS – Exophthalmic conditions

GWS hits: -

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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