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. |
103 |
4. Check minimum number of eventsNone |
103 |
5. Include endpoints |
108 |
6. Filter based on genotype QC (FinnGen only) |
103 |
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
Perturbationes metabolismi acidorum aminoicorum aromaticorum
Similar endpoints
↥List of similar endpoints to
Disorders of aromatic 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
- Any prescribed medicine buy
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1159 | 532 | 616 |
| Only index persons | 866 | 389 | 477 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.02 |
| Only index persons | 0.02 | 0.01 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 58.64 | 60.78 | 56.81 |
| Only index persons | 56.65 | 56.92 | 56.42 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 103 | 48 | 55 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.03 |
| Median age at first event (years) | 53.15 | 45.54 | 59.80 |
-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_AROMAMINO and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_AROMAMINO | 2.581 [1.81, 3.67] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.231 |
During the follow-up period (1.1.1998 — 31.12.2019), 148 out of 395 females with E4_AROMAMINO died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_AROMAMINO | 2.889 [2.02, 4.13] | < 0.001 |
| Birth year | 0.987 [0.98, 1.0] | 0.006 |
During the follow-up period (1.1.1998 — 31.12.2019), 185 out of 477 males with E4_AROMAMINO died.
Mortality risk
Mortality risk for people of age
years, who have E4_AROMAMINO.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.266% | 0.666% |
| 5 | 1.487% | 3.418% |
| 10 | 3.9% | 8.606% |
| 15 | 7.321% | 15.494% |
| 20 | 12.257% | 25.231% |
Relationships between endpoints
↥Index endpoint: E4_AROMAMINO – Disorders of aromatic amino-acid metabolism
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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