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Disorders of plasma-protein metabolism, not elsewhere classified

DOID EFO MESH PheWeb

E4_PLASMAPROT

obsolete_alpha-1-antitrypsin deficiency: ['A lung disease that is characterized as a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. Alpha-1 antitrypsin works to protect the lungs from a naturally occuring destructive enzyme that is produced by the lungs in response to infections and toxins (such as cigarette smoke). Without enough A1AT, these enzymes slowly destroy the lung tissue causing emphysema. The symptoms include shortness of breath, wheezing, rhonchi, and rales.']

Endpoint definition

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FinnGen phenotype data

356077 individuals

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Apply sex-specific rule None

356077

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Check conditions None

356077

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Filter registries

Hospital Discharge: ICD-10 E88.0#
Hospital discharge: ICD-9 273[8-9]
Hospital discharge: ICD-8 $!$
Cause of death: ICD-10 E88.0#
Cause of death: ICD-9 273[8-9]
Cause of death: ICD-8 $!$

680

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Check pre-conditions, main-only, mode, ICD version

Look only at ICD versions H.D: 10, 8, 9 ; C.O.D: 10, 8, 9

159

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Check minimum number of events None

159

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Include endpoints None

159

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E4_PLASMAPROT

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E88
Name in latin Perturbationes metabolismi proteinorum plasmaticorum non alibi classificatae

Summary Statistics

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Key figures

All Female Male
Number of individuals 159 86 73
Unadjusted prevalence (%) 0.04 0.04 0.05
Mean age at first event (years) 50.49 48.66 52.64

Mortality

Follow-up Absolute risk HR [95% CI] p N
1998–2019 - - - -
15 years - - - -
5 years - - - -
1 year - - - -

Age distribution of first events

Year distribution of first events

Cumulative Incidence

Correlations

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Index endpoint: E4_PLASMAPROT – Disorders of plasma-protein metabolism, not elsewhere classified
GWS hits: 6

Survival analyses between endpoints

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Plot

before Disorders of plasma-protein metabolism, not elsewhere classified
after Disorders of plasma-protein metabolism, not elsewhere classified

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Drugs most likely to be purchased after Disorders of plasma-protein metabolism, not elsewhere classified

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