No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
138 |
4. Check minimum number of eventsNone |
138 |
5. Include endpoints |
157 |
6. Filter based on genotype QC (FinnGen only) |
152 |
Control definitions (FinnGen only)
Control exclude
E4_METABOLIA
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E70-E90
Name in latin
Aliae perturbationes metabolismi acidorum aminoicorum
Similar endpoints
↥List of similar endpoints to
Other disorders of amino-acid metabolism
based on the number of shared cases.
Similar with more cases:
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1745 | 846 | 887 |
| Only index persons | 1331 | 659 | 672 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.02 |
| Only index persons | 0.02 | 0.02 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 52.90 | 55.02 | 50.64 |
| Only index persons | 53.93 | 55.81 | 52.09 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 152 | 79 | 73 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.04 |
| Median age at first event (years) | 52.09 | 46.94 | 57.66 |
-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
↥Association
Association between endpoint E4_AMINO and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_AMINO | 2.512 [1.93, 3.26] | < 0.001 |
| Birth year | 0.993 [0.98, 1.0] | 0.091 |
During the follow-up period (1.1.1998 — 31.12.2019), 205 out of 578 females with E4_AMINO died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_AMINO | 3.747 [2.76, 5.09] | < 0.001 |
| Birth year | 0.986 [0.98, 1.0] | 0.005 |
During the follow-up period (1.1.1998 — 31.12.2019), 230 out of 601 males with E4_AMINO died.
Mortality risk
Mortality risk for people of age
years, who have E4_AMINO.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.268% | 0.683% |
| 5 | 1.525% | 4.062% |
| 10 | 3.659% | 10.004% |
| 15 | 6.716% | 18.481% |
| 20 | 11.084% | 29.844% |
Relationships between endpoints
↥Index endpoint: E4_AMINO – Other disorders of amino-acid metabolism
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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