This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Disorders of urea cycle metabolism
E4_UREACYCLE
No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
24 |
4. Check minimum number of eventsNone |
24 |
5. Include endpointsNone |
24 |
6. Filter based on genotype QC (FinnGen only) |
24 |
Control definitions (FinnGen only)
- Control exclude
- E4_METABOLIA
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- E72
- Name in latin
- Perturbationes cycli urealis
Similar endpoints
↥List of similar endpoints to
Disorders of urea cycle metabolism
based on the number of shared cases.
Similar with more cases:
- Other disorders of amino-acid metabolism
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 302 | 123 | 178 |
| Only index persons | 237 | 102 | 135 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.00 | 0.00 | 0.00 |
| Only index persons | 0.00 | 0.00 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 43.32 | 44.19 | 42.61 |
| Only index persons | 46.36 | 45.17 | 47.26 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 24 | 13 | 11 |
| Unadjusted period prevalence (%) | 0.00 | 0.00 | 0.00 |
| Median age at first event (years) | 46.37 | 33.92 | 61.08 |
-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
No data
-FinnGen-
Cumulative Incidence Function
Not a core endpoint, no data to show.
CodeWAS (R11)
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
No data available
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
13
18
14.58
9.92
17.6
2.3
9.5
8.8
mmol/l
0.11
13
18
9
12
11.18
4.88
7.9
6.9
4.8
4.9
kpa
—
9
12
5
6
10.07
2.88
10.4
6.2
22.0
24.4
mmol/l
—
5
6
13
61
3.47
2.23
6.8
2.6
58.3
34.0
u/l
0.38
13
54
5
10
5.98
2.18
3.6
1.5
—
—
—
0
0
15
82
3.20
2.11
19.3
4.7
1.2
1.2
mmol/l
0.50
15
75
7
22
4.05
2.07
1.9
2.3
—
—
—
0
0
8
29
3.61
2.02
2.0
2.2
—
—
—
0
0
7
23
3.86
1.98
2.0
2.2
—
—
—
0
0
8
33
3.12
1.73
3.0
1.9
1083.9
429.7
pmol/l
—
8
26
6
23
3.13
1.47
12.8
6.1
24.9
24.1
mmol/l
—
6
23
15
97
2.45
1.30
22.8
4.7
15.9
21.7
umol/l
0.54
15
90
7
34
2.48
1.14
2.7
1.9
1757.7
1246.1
nmol/l
—
7
24
11
65
2.28
1.05
5.1
2.2
71.1
72.6
nmol/l
0.08
11
56
16
118
2.06
0.87
11.6
2.7
89.5
46.1
u/l
0.82
16
113
0
19
0.00
0.63
0.0
1.0
—
—
—
0
0
0
19
0.00
0.63
0.0
1.9
—
—
—
0
0
11
79
1.72
0.53
10.0
3.4
—
—
—
0
0
0
15
0.00
0.43
0.0
1.3
—
—
—
0
0
14
112
1.60
0.42
16.9
4.0
7.2
6.7
mmol/l
0.27
14
102
15
123
1.58
0.41
18.7
7.3
3.8
4.2
e9/l
0.42
15
108
10
75
1.57
0.38
7.1
2.4
—
—
—
0
0
18
195
0.69
0.37
73.3
12.8
137.9
139.5
mmol/l
0.78
18
190
8
65
1.34
0.32
7.0
3.4
—
—
—
0
0
17
149
1.48
0.29
22.6
5.7
125.4
88.6
u/l
0.82
17
132
5
41
1.28
0.24
6.2
2.6
5699.5
1281.1
ng/l
—
5
32
0
10
0.00
0.22
0.0
1.7
—
—
—
0
0
12
138
0.74
0.21
3.6
3.5
—
—
—
0
0
17
176
0.88
0.09
6.5
4.4
2.2
2.8
mmol/l
2.02
17
153
15
158
0.87
0.08
11.9
5.2
43.8
39.4
mmol/mol
0.47
15
142
0
6
0.00
0.00
0.0
1.0
—
6.3
—
0
6
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
30.3
—
0
6
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
19.0
—
0
6
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
17
165
1.10
0.00
6.4
3.6
1.3
1.3
mmol/l
0.07
17
142
17
172
0.96
0.00
5.8
3.9
1.1
1.4
mmol/l
2.30
17
149
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
0.0
—
0
5
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
17
172
0.96
0.00
6.4
3.9
4.0
4.6
mmol/l
1.93
17
153
Mortality – FinRegistry
↥Association
Association between endpoint E4_UREACYCLE and mortality.
Females
No dataMales
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_UREACYCLE | 9.479 [3.56, 25.26] | < 0.001 |
| Birth year | 0.994 [0.98, 1.0] | 0.24 |
During the follow-up period (1.1.1998 — 31.12.2019), 53 out of 138 males with E4_UREACYCLE died.
Mortality risk
Mortality risk for people of age
years, who have E4_UREACYCLE.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | 2.198% |
| 5 | No data | 12.302% |
| 10 | No data | 29.894% |
| 15 | No data | 51.368% |
| 20 | No data | 71.397% |
Relationships between endpoints
↥Index endpoint: E4_UREACYCLE – Disorders of urea cycle metabolism
GWS hits: -
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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