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Other and unspecified corneal deformities and disorders

DOID EFO Endpoint Browser PheWeb

H7_CORNEALNAS

corneal disease: A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma.

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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 — H18.7, H18.8, H18.9
  • Hospital discharge: ICD-9 — 371[7-9]
  • Hospital discharge: ICD-8 — 37860
  • Cause of death: ICD-10 — H18.7, H18.8, H18.9
  • Cause of death: ICD-9 — 371[7-9]
  • Cause of death: ICD-8 — 37860

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

1070

4. Check minimum number of events

None

1070

5. Include endpoints

None

1070

6. Filter based on genotype QC (FinnGen only)

1026

Control definitions (FinnGen only)

Control exclude H7_SCLERACORNEA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF6

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 8787 4685 4066
Only index persons 8268 4439 3829
Unadjusted period prevalence (%)
Whole population 0.12 0.13 0.11
Only index persons 0.16 0.16 0.15
Median age at first event (years)
Whole population 46.79 50.05 42.97
Only index persons 46.07 49.15 42.49

-FinnGen-

Key figures

All Female Male
Number of individuals 1026 611 415
Unadjusted period prevalence (%) 0.23 0.24 0.21
Median age at first event (years) 49.25 48.72 50.03

-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 H7_CORNEALNAS and mortality.

Females

Parameter HR [95% CI] p-value
H7_CORNEALNAS 1.154 [0.99, 1.34] 0.064
Birth year 0.992 [0.98, 1.0] 0.064

During the follow-up period (1.1.1998 — 31.12.2019), 407 out of 3842 females with H7_CORNEALNAS died.

Males

Parameter HR [95% CI] p-value
H7_CORNEALNAS 1.221 [1.03, 1.44] 0.019
Birth year 0.986 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 340 out of 3257 males with H7_CORNEALNAS died.

Mortality risk

Mortality risk for people of age

years, who have H7_CORNEALNAS.

N-year risk Females Males
1 0.096% 0.159%
5 0.622% 1.398%
10 1.589% 3.359%
15 2.881% 6.346%
20 4.996% 10.9%

Relationships between endpoints

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Index endpoint: H7_CORNEALNAS – Other and unspecified corneal deformities and disorders

GWS hits: 5

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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