No definition available.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
112 |
4. Check minimum number of eventsNone |
112 |
5. Include endpoints |
117 |
6. Filter based on genotype QC (FinnGen only) |
113 |
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 | 113 | 52 | 61 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.03 |
| Median age at first event (years) | 54.21 | 45.54 | 61.61 |
-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
CodeWAS
↥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.
Matched cohort
- Matched cases
- 117
- Matched controls
- 1170
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E70.2
ICD-10 Finland
Disorders of tyrosine metabolism
+∞
47.1
42
*
I70.2
ICD-10 Finland
Atherosclerosis of arteries of extremities
13.2
35.6
41
46
E70.3
ICD-10 Finland
Albinism
+∞
24.9
23
*
E70.0
ICD-10 Finland
Classical phenylketonuria
+∞
22.6
21
*
I25.9
ICD-10 Finland
Chronic ischaemic heart disease, unspecified
6.6
15.0
28
53
I25.1
ICD-10 Finland
Atherosclerotic heart disease
5.0
14.4
41
114
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
6.0
14.0
29
61
E70.8
ICD-10 Finland
Other disorders of aromatic amino-acid metabolism
+∞
12.7
12
*
B01AC04
ATC
clopidogrel; oral
5.1
12.6
32
80
ZXD05
NOMESCO Finland
Urgent procedure
3.9
12.0
54
209
E70.9
ICD-10 Finland
Disorder of aromatic amino-acid metabolism, unspecified
+∞
11.6
11
*
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
19.6
11.6
17
10
TPH04
NOMESCO Finland
Cathetrisation of vein
4.3
11.5
38
117
WX408
NOMESCO Finland
General anesthesy, balanced
4.0
11.4
45
158
PD4BC
NOMESCO Finland
Extensive arterigography of lower extremity with X-ray
48.3
11.2
13
*
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
11.8
11.0
20
20
PE1AT
NOMESCO Finland
Femoral artery PTA
66.2
10.8
12
*
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
4.0
10.8
42
145
A10AC01
ATC
insulin (human); parenteral
5.5
10.3
22
47
Y83
ICD-10 Finland
Surgical operation and other surgical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
6.1
10.0
19
36
E70.1
ICD-10 Finland
Other hyperphenylalaninaemias
+∞
9.5
9
*
AN1
HP
Coronary angiography
5.6
9.2
19
39
I70.9
ICD-10 Finland
Generalized and unspecified atherosclerosis
15.7
8.9
14
10
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
15.7
8.9
14
10
E11.5
ICD-10 Finland
Type 2 diabetes mellitus, with peripheral circulatory complications
18.1
8.8
13
8
PD4DE
NOMESCO Finland
Lower extremity artery ultrasound examination with Doppler method
30.0
8.6
11
*
C03CA01
ATC
furosemide; systemic
3.2
8.6
50
220
H55
ICD-10 Finland
Nystagmus and other irregular eye movements
+∞
8.4
8
*
XPX99
NOMESCO Finland
Other diagnostic examination of periferal vessel
8.3
8.3
18
25
E11.7
ICD-10 Finland
Type 2 diabetes mellitus, with multiple complications
8.3
8.3
18
25
Z31.5
ICD-10 Finland
Genetic counselling
8.3
8.3
18
25
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
5.1
8.2
19
43
103
Kela drug reimbursment
Diabetes, insulin-treated
3.3
8.2
44
183
N08.39*E11.2
ICD-10 Finland
Non-insulin-dependent diabetes mellitus - Diabetic nephropathy
36.1
8.2
10
*
A12AA04
ATC
calcium carbonate; oral
36.1
8.2
10
*
A11CC03
ATC
alfacalcidol; systemic
16.5
7.9
12
8
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
4.1
7.6
24
70
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
9.4
7.6
15
18
N08.39*E10.2
ICD-10 Finland
Insulin-dependent diabetes mellitus - Diabetic nephropathy
85.3
7.5
8
*
E11.00
ICD-10 Finland
Non-insulin dependent diabetes diabetic hypoglycaemic coma
12.0
7.5
13
12
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
+∞
7.4
7
*
L97
ICD-10 Finland
Ulcer of lower limb, not elsewhere classified
9.8
7.3
14
16
TPH07
NOMESCO Finland
Cathetrisation of artery
4.5
7.2
19
48
E11.8
ICD-10 Finland
Type 2 diabetes mellitus, with unspecified complications
4.3
7.2
20
53
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.5
7.0
28
96
C01DA14
ATC
isosorbide mononitrate; oral
3.6
6.9
26
86
A10AE04
ATC
insulin glargine; parenteral
4.3
6.8
19
50
NFQ20
NOMESCO Finland
Amputation of femur
42.6
6.8
8
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.6
6.7
26
87
XF402
NOMESCO Finland
ECG with work load test
4.4
6.7
18
46
C10AA01
ATC
simvastatin; oral
2.8
6.6
51
256
PD4AC
NOMESCO Finland
Arterigography of lower extremity with X-ray
15.5
6.5
10
7
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
73.7
6.5
7
*
S91.3
ICD-10 Finland
Open wound of other parts of foot
12.0
6.4
11
10
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.7
6.4
57
305
T90
ICPC
Diabetes non-insulin dependent
3.1
6.4
33
132
E10.5
ICD-10 Finland
Type 1 diabetes mellitus, With peripheral circulatory complications
+∞
6.3
6
*
503
Kela drug reimbursment
Inborn metabolic disorders
+∞
6.3
6
*
XG410
NOMESCO Finland
Flow-volume spirometry
7.4
6.3
14
21
J01MA12
ATC
levofloxacin; systemic
3.1
6.2
31
122
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.1
6.2
30
116
206
Kela drug reimbursment
Chronic coronary artery disease and dyslipidaemia associated with chronic coronary artery disease
3.2
6.0
28
105
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
42
204
2.65
5.63
4.8
3.6
18.76
6.32
mg/mmol
0.81
28
127
22
80
3.16
4.94
3.3
5.4
0.43
1.00
mmol/l
0.28
15
62
10
16
6.72
4.40
3.4
1.4
—
—
—
0
0
9
14
6.86
4.07
3.3
3.3
58.33
54.86
%
—
9
14
59
375
2.16
4.03
10.9
6.8
1.22
1.21
mmol/l
0.50
46
321
26
118
2.55
3.87
3.5
2.3
2.36
2.42
g/l
0.16
26
109
54
344
2.06
3.55
8.1
12.7
1.00
1.23
inr
4.91
17
91
49
302
2.07
3.52
7.8
4.6
34.61
35.87
g/l
0.63
43
282
13
38
3.72
3.44
1.2
1.2
—
—
—
0
0
26
125
2.39
3.41
3.2
2.4
12.50
14.57
umol/l
0.65
26
119
58
390
1.97
3.19
9.2
7.1
9.79
11.28
umol/l
0.82
58
366
50
321
1.97
3.13
3.6
2.5
81.39
74.42
nmol/l
1.24
45
284
52
346
1.91
2.88
20.2
6.2
1.23
1.21
mmol/l
1.69
47
315
44
278
1.93
2.84
2.7
1.9
101.10
94.80
pmol/l
0.46
28
156
8
22
3.82
2.41
2.1
1.9
—
—
—
0
0
41
271
1.79
2.22
4.9
3.8
53.39
31.40
ng/l
0.61
32
187
8
25
3.36
2.14
14.3
2.3
24.90
23.89
mmol/l
—
8
25
64
485
1.71
2.11
13.5
9.9
4.80
3.94
e9/l
1.70
58
433
17
84
2.20
2.08
18.4
5.7
103.71
104.85
mmol/l
0.46
17
84
6
15
4.15
2.06
1.3
1.3
—
—
—
0
0
6
17
3.66
1.86
1.2
1.6
—
—
—
0
0
6
17
3.66
1.86
1.2
1.6
—
—
—
0
0
43
301
1.68
1.86
5.5
3.3
—
—
—
0
0
5
12
4.30
1.84
1.4
1.3
—
—
—
0
0
5
13
3.97
1.73
1.0
1.4
—
—
—
0
0
8
31
2.69
1.69
19.4
5.7
1.32
1.20
%
—
8
31
7
25
2.91
1.68
1.4
1.5
—
—
—
0
0
5
14
3.68
1.63
1.0
1.4
—
—
—
0
0
20
117
1.86
1.57
3.2
3.0
29.99
29.65
s
0.12
20
112
21
125
1.83
1.57
2.5
1.7
—
—
—
0
0
11
51
2.28
1.56
6.8
2.4
52.20
70.83
ml/min/173m2
—
5
18
6
21
2.95
1.52
1.3
1.2
—
—
—
0
0
6
21
2.95
1.52
4.2
2.0
130.67
130.06
g/l
—
6
16
13
226
0.52
1.40
2.6
4.4
19.24
20.47
%
—
5
121
6
23
2.69
1.38
1.8
1.8
—
—
—
0
0
9
43
2.18
1.33
6.6
3.5
316.56
159.95
ng/l
—
9
38
33
233
1.58
1.33
6.0
3.9
0.00
0.00
estimate
-0.00
13
72
22
141
1.69
1.29
3.0
1.7
1215.82
1149.22
nmol/l
0.10
17
107
5
19
2.70
1.23
1.8
2.0
—
—
—
0
0
34
247
1.53
1.21
6.6
3.7
54.68
28.96
u/l
0.49
34
234
32
230
1.54
1.19
5.7
3.1
0.13
0.39
e6/l
1.21
26
174
7
30
2.42
1.14
1.9
2.2
—
—
—
0
0
45
353
1.45
1.09
3.5
2.5
—
—
—
0
0
5
22
2.33
1.04
2.6
1.8
—
—
—
0
0
50
405
1.41
1.00
6.0
4.7
0.00
0.00
estimate
-0.00
15
74
11
62
1.85
0.98
15.7
11.0
23.71
24.66
mmol/l
0.52
11
62
9
51
1.83
0.97
2.2
1.8
—
—
—
0
0
6
27
2.29
0.95
1.7
1.9
—
—
—
0
0
50
409
1.39
0.94
5.1
3.6
0.00
0.00
estimate
-0.00
12
73
49
400
1.39
0.93
5.1
3.6
0.00
0.00
estimate
-0.00
15
84
23
166
1.48
0.84
2.6
2.3
—
—
—
0
0
13
83
1.64
0.79
2.0
4.5
228.69
236.16
u/l
0.20
13
77
5
23
2.22
0.77
1.4
1.3
—
—
—
0
0
5
28
1.82
0.67
1.6
1.5
—
—
—
0
0
0
21
0.00
0.60
0.0
1.8
—
—
—
0
0
12
84
1.48
0.51
11.7
3.5
—
—
—
0
0
21
166
1.32
0.47
1.5
1.5
—
—
—
0
0
38
326
1.25
0.47
5.8
3.6
—
—
—
0
0
0
15
0.00
0.41
0.0
1.5
—
—
—
0
0
0
16
0.00
0.41
0.0
2.1
—
—
—
0
0
0
17
0.00
0.41
0.0
1.8
—
—
—
0
0
22
180
1.27
0.39
2.5
2.3
1.15
1.01
mg/l
0.15
17
149
9
122
0.72
0.37
1.8
2.1
—
—
—
0
0
10
134
0.72
0.37
4.6
4.0
70.69
386.32
ng/l
—
10
97
11
83
1.36
0.33
8.9
6.6
—
—
—
0
0
16
130
1.27
0.30
3.1
2.9
0.98
1.76
e6/l
—
10
75
14
113
1.27
0.28
1.7
1.3
—
—
—
0
0
79
751
1.16
0.27
5.7
4.3
6.39
5.89
mmol/l
1.74
72
679
24
209
1.19
0.25
1.4
1.5
0.80
1.17
u/ml
—
7
47
12
98
1.25
0.22
1.8
2.0
3.64
1.44
%
0.48
12
89
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
9
110
0.80
0.21
1.8
1.9
—
—
—
0
0
59
557
1.12
0.20
3.4
3.4
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
188.00
—
0
14
6
50
1.21
0.20
1.3
1.3
—
—
—
0
0
75
779
0.90
0.18
5.8
3.9
1.28
1.44
mmol/l
2.31
69
713
77
742
1.11
0.17
21.3
11.8
79.18
83.30
ml/min/173m2
0.62
64
598
77
796
0.90
0.16
6.0
4.3
2.41
2.71
mmol/l
1.90
71
729
28
259
1.11
0.13
3.4
2.7
2.38
2.35
mmol/l
0.51
23
228
76
783
0.92
0.13
5.9
4.0
4.25
4.58
mmol/l
1.63
71
720
84
819
1.09
0.12
22.7
13.2
24.46
22.92
mg/l
0.17
76
616
92
939
0.91
0.12
35.2
19.1
39.74
39.92
%
0.12
86
882
6
54
1.12
0.09
1.0
1.1
—
—
—
0
0
26
273
0.94
0.06
4.7
5.0
1.66
2.82
ug/l
0.86
21
251
10
90
1.12
0.05
3.1
1.6
—
—
—
0
0
15
141
1.07
0.03
3.9
2.8
0.84
0.79
e6/l
—
8
86
86
870
0.96
0.03
27.7
15.0
89.69
76.38
umol/l
1.95
86
870
10
92
1.10
0.03
3.1
1.5
—
—
—
0
0
74
731
1.03
0.02
5.7
4.3
1.95
1.93
mu/l
0.07
67
661
58
589
0.97
0.02
5.2
3.7
14.89
14.72
pmol/l
0.20
53
529
75
755
0.98
0.00
5.5
3.6
1.62
1.25
mmol/l
1.73
68
690
0
9
0.00
0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
0.00
0.0
3.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
7.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
86.60
—
0
5
0
5
0.00
0.00
0.0
2.8
—
32.40
—
0
5
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
13.20
—
0
5
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.9
—
7.83
—
0
7
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.0
—
13.57
—
0
7
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
94.00
—
0
6
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
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: 1
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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