No definition available.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
125 |
4. Check minimum number of eventsNone |
125 |
5. Include endpoints |
130 |
6. Filter based on genotype QC (FinnGen only) |
114 |
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 prescribed medicine buy
- 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 | 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 | 114 | 52 | 62 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.03 |
| Median age at first event (years) | 53.79 | 45.54 | 60.71 |
-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
- 118
- Matched controls
- 1180
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E70.2
ICD-10 Finland
Disorders of tyrosine metabolism
+∞
48.3
43
*
I70.2
ICD-10 Finland
Atherosclerosis of arteries of extremities
13.0
36.0
42
48
E70.3
ICD-10 Finland
Albinism
+∞
26.0
24
*
E70.0
ICD-10 Finland
Classical phenylketonuria
+∞
21.5
20
*
I25.9
ICD-10 Finland
Chronic ischaemic heart disease, unspecified
6.5
15.3
29
56
I25.1
ICD-10 Finland
Atherosclerotic heart disease
4.9
14.4
42
119
B01AC04
ATC
clopidogrel; oral
5.1
13.0
33
83
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
5.4
12.8
30
70
E70.8
ICD-10 Finland
Other disorders of aromatic amino-acid metabolism
+∞
12.7
12
*
TPH04
NOMESCO Finland
Cathetrisation of vein
4.4
12.0
40
124
E70.9
ICD-10 Finland
Disorder of aromatic amino-acid metabolism, unspecified
+∞
11.6
11
*
WX408
NOMESCO Finland
General anesthesy, balanced
4.0
11.6
45
156
ZXD05
NOMESCO Finland
Urgent procedure
3.8
11.2
54
216
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
17.8
11.2
17
11
PD4BC
NOMESCO Finland
Extensive arterigography of lower extremity with X-ray
48.3
11.2
13
*
PE1AT
NOMESCO Finland
Femoral artery PTA
66.1
10.8
12
*
A10AC01
ATC
insulin (human); parenteral
5.6
10.8
23
49
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
3.7
10.1
43
157
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
9.8
10.1
20
24
PD4DE
NOMESCO Finland
Lower extremity artery ultrasound examination with Doppler method
33.1
9.6
12
*
E70.1
ICD-10 Finland
Other hyperphenylalaninaemias
+∞
9.5
9
*
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
15.4
9.5
15
11
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
5.8
9.5
19
38
E11.5
ICD-10 Finland
Type 2 diabetes mellitus, with peripheral circulatory complications
15.7
8.9
14
10
103
Kela drug reimbursment
Diabetes, insulin-treated
3.3
8.8
46
190
AN1
HP
Coronary angiography
5.3
8.7
19
41
XPX99
NOMESCO Finland
Other diagnostic examination of periferal vessel
8.2
8.7
19
27
I70.9
ICD-10 Finland
Generalized and unspecified atherosclerosis
14.2
8.6
14
11
H55
ICD-10 Finland
Nystagmus and other irregular eye movements
+∞
8.4
8
*
C03CA01
ATC
furosemide; systemic
3.1
8.2
51
232
Z31.5
ICD-10 Finland
Genetic counselling
8.0
8.1
18
26
E11.7
ICD-10 Finland
Type 2 diabetes mellitus, with multiple complications
8.0
8.1
18
26
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.8
7.8
19
45
N08.39*E11.2
ICD-10 Finland
Non-insulin-dependent diabetes mellitus - Diabetic nephropathy
27.0
7.7
10
*
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
9.4
7.6
15
18
A11CC03
ATC
alfacalcidol; systemic
14.7
7.6
12
9
N08.39*E10.2
ICD-10 Finland
Insulin-dependent diabetes mellitus - Diabetic nephropathy
85.2
7.5
8
*
XF402
NOMESCO Finland
ECG with work load test
4.6
7.4
19
47
PD4AC
NOMESCO Finland
Arterigography of lower extremity with X-ray
17.1
7.4
11
7
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
+∞
7.4
7
*
A12AA04
ATC
calcium carbonate; oral
21.6
7.3
10
5
E11.00
ICD-10 Finland
Non-insulin dependent diabetes diabetic hypoglycaemic coma
11.1
7.2
13
13
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.6
7.2
27
89
L97
ICD-10 Finland
Ulcer of lower limb, not elsewhere classified
9.2
7.1
14
17
C10AA01
ATC
simvastatin; oral
2.8
6.9
52
258
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
4.7
6.8
17
41
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.4
6.8
28
98
T90
ICPC
Diabetes non-insulin dependent
3.1
6.7
35
141
S91.3
ICD-10 Finland
Open wound of other parts of foot
13.3
6.7
11
9
C01DA14
ATC
isosorbide mononitrate; oral
3.5
6.6
26
88
TPH07
NOMESCO Finland
Cathetrisation of artery
4.2
6.5
19
52
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
73.7
6.5
7
*
E11.8
ICD-10 Finland
Type 2 diabetes mellitus, with unspecified complications
4.0
6.5
20
57
Z3226
NOMESCO Finland
Physiotherapist
3.1
6.5
32
125
XG410
NOMESCO Finland
Flow-volume spirometry
7.8
6.4
14
20
Z01.8
ICD-10 Finland
Other specified special examinations
3.1
6.4
32
126
A10BB12
ATC
glimepiride; oral
4.6
6.3
16
39
NFQ20
NOMESCO Finland
Amputation of femur
28.3
6.3
8
*
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
*
A10AE04
ATC
insulin glargine; parenteral
3.9
6.2
20
59
A10BH01
ATC
sitagliptin; oral
4.2
6.1
17
45
FN1AC
NOMESCO Finland
Angiography of heart and/or coronary arteries
3.1
6.1
30
117
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
25
92
3.18
5.53
3.6
6.9
0.81
0.86
mmol/l
0.02
19
76
47
245
2.53
5.40
5.5
3.8
16.78
6.50
mg/mmol
0.76
32
157
65
415
2.26
4.52
11.5
8.6
1.22
1.21
mmol/l
0.55
54
357
9
12
8.01
4.44
5.9
1.8
9.30
6.54
pmol/l
—
9
12
11
20
5.95
4.41
3.3
1.4
—
—
—
0
0
13
40
3.52
3.26
1.2
1.2
—
—
—
0
0
54
353
1.98
3.23
8.1
5.2
34.26
35.97
g/l
1.11
49
329
26
128
2.32
3.23
3.3
2.7
22.21
23.95
%
0.29
26
122
52
338
1.96
3.14
2.7
2.0
98.91
95.96
pmol/l
0.21
30
186
27
143
2.15
2.80
3.9
2.6
2.37
2.36
g/l
0.02
27
134
26
140
2.10
2.58
2.4
1.9
—
—
—
0
0
69
518
1.80
2.48
15.6
10.8
4.74
3.94
e9/l
1.64
62
461
27
150
2.04
2.47
3.6
2.7
11.90
13.88
umol/l
0.78
27
142
8
23
3.65
2.31
1.4
1.4
—
—
—
0
0
7
18
4.06
2.29
4.7
2.3
16.31
16.13
%
—
7
18
7
18
4.06
2.29
1.3
1.4
—
—
—
0
0
9
29
3.27
2.28
2.1
2.1
—
—
—
0
0
45
306
1.76
2.21
5.1
3.9
56.09
31.23
ng/l
0.81
36
215
10
38
2.78
2.06
18.5
14.6
1.39
1.22
%
—
10
38
6
16
3.89
1.96
4.5
10.0
—
—
—
0
0
12
52
2.46
1.95
4.7
8.8
94.98
93.25
%
0.68
12
52
7
22
3.31
1.91
1.3
1.4
—
—
—
0
0
12
53
2.41
1.88
11.4
2.3
57.67
66.24
ml/min/173m2
—
6
17
8
30
2.78
1.76
1.4
1.6
—
—
—
0
0
5
13
3.97
1.73
1.0
1.4
—
—
—
0
0
15
77
2.09
1.68
4.3
5.1
6.37
93.26
ug/l
0.51
15
66
14
250
0.50
1.64
2.9
4.6
18.64
21.15
%
—
5
135
61
477
1.58
1.64
5.4
3.7
0.00
0.00
estimate
-0.00
17
104
6
20
3.10
1.60
1.8
2.0
—
—
—
0
0
51
385
1.57
1.58
4.1
2.8
—
—
estimate
—
0
0
8
33
2.53
1.57
14.9
2.3
24.91
23.88
mmol/l
—
8
33
7
27
2.69
1.54
1.3
1.4
1.24
1.14
g/l
—
7
27
7
27
2.69
1.54
1.3
1.3
0.19
0.24
g/l
—
7
27
61
484
1.54
1.49
5.5
3.8
0.00
0.00
estimate
-0.00
14
100
23
143
1.76
1.49
2.9
1.7
1162.33
1147.39
nmol/l
0.02
18
108
9
39
2.41
1.46
20.4
14.2
0.68
0.60
%
—
9
39
60
476
1.53
1.46
5.5
3.8
0.00
0.00
estimate
-0.00
17
106
6
23
2.69
1.38
1.2
1.2
—
—
—
0
0
6
23
2.69
1.38
1.2
1.8
—
—
—
0
0
36
259
1.56
1.34
6.4
3.3
0.13
0.34
e6/l
1.21
27
198
27
181
1.64
1.34
2.5
2.7
—
—
—
0
0
18
108
1.79
1.31
19.4
10.3
103.94
104.78
mmol/l
0.32
18
108
16
94
1.81
1.25
1.9
5.4
228.00
231.37
u/l
0.09
16
89
5
19
2.70
1.23
1.2
1.3
—
—
—
0
0
38
282
1.51
1.22
6.8
3.7
55.37
28.87
u/l
0.59
38
270
6
26
2.38
1.20
5.0
1.8
131.00
128.00
g/l
—
6
21
38
284
1.50
1.18
6.3
3.8
0.00
0.00
estimate
-0.00
15
94
7
30
2.42
1.14
1.9
2.2
—
—
—
0
0
11
59
1.95
1.11
2.3
1.7
—
—
—
0
0
16
100
1.69
1.03
1.8
2.1
3.09
1.42
%
0.49
16
90
12
70
1.80
0.97
16.8
18.3
23.73
24.87
mmol/l
0.70
12
70
6
27
2.29
0.95
1.7
1.9
—
—
—
0
0
6
27
2.29
0.95
1.8
1.9
—
—
—
0
0
24
172
1.50
0.90
1.2
1.3
14.32
22.70
iu/ml
—
5
48
6
31
1.98
0.85
1.7
1.6
—
—
—
0
0
6
32
1.92
0.83
2.2
2.2
1.17
5.19
mg/l
—
6
26
9
54
1.72
0.76
1.4
1.5
—
—
—
0
0
15
101
1.56
0.74
2.8
1.8
—
—
—
0
0
5
25
2.04
0.73
2.6
1.8
—
—
—
0
0
9
58
1.60
0.71
23.0
16.8
24.74
23.83
mmol/l
—
9
58
19
138
1.45
0.68
4.1
3.4
0.98
1.83
e6/l
—
10
73
26
204
1.35
0.61
2.4
2.3
1.10
1.31
mg/l
0.20
21
168
0
21
0.00
0.60
0.0
1.9
—
—
—
0
0
0
21
0.00
0.60
0.0
2.0
—
—
—
0
0
15
109
1.43
0.54
2.8
1.7
—
—
—
0
0
13
93
1.45
0.50
11.1
3.5
—
—
—
0
0
63
570
1.23
0.47
3.4
3.5
—
—
—
0
0
43
376
1.23
0.44
5.9
3.6
0.00
0.03
estimate
0.74
15
90
0
16
0.00
0.41
0.0
1.6
—
46.57
—
0
16
22
181
1.26
0.38
1.5
1.7
—
—
—
0
0
11
81
1.39
0.38
9.0
6.7
—
—
—
0
0
19
154
1.28
0.37
4.7
3.2
0.77
0.84
e6/l
—
10
89
10
131
0.74
0.33
1.7
2.1
—
—
—
0
0
26
300
0.83
0.31
5.2
5.5
1.71
2.78
ug/l
0.79
21
274
31
273
1.18
0.29
5.0
3.1
0.00
0.03
estimate
0.49
14
79
84
804
1.16
0.25
25.3
14.0
79.51
82.83
ml/min/173m2
0.52
76
735
14
116
1.23
0.23
1.7
1.4
—
—
—
0
0
26
231
1.16
0.22
1.5
1.5
1.20
1.09
u/ml
—
8
55
5
42
1.20
0.22
2.6
2.4
10.72
19.20
iu/l
—
5
34
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.6
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
183.36
—
0
14
31
340
0.88
0.20
2.2
1.8
1.84
1.34
mmol/l
1.10
26
293
10
120
0.82
0.17
1.7
1.8
—
—
—
0
0
89
864
1.12
0.17
26.0
15.3
27.05
23.56
mg/l
0.46
81
683
91
885
1.12
0.16
35.3
17.8
138.85
139.77
mmol/l
2.69
91
860
80
775
1.10
0.14
5.9
4.0
1.57
1.24
mmol/l
1.67
74
711
91
887
1.11
0.14
35.7
17.8
4.02
3.97
mmol/l
0.86
91
862
94
960
0.90
0.13
42.4
23.0
131.79
135.72
g/l
1.46
94
945
24
220
1.11
0.13
5.1
4.0
1.02
1.02
kg/l
0.20
17
153
81
789
1.08
0.11
6.5
4.8
6.41
5.89
mmol/l
1.82
74
720
94
958
0.91
0.11
42.2
23.7
39.53
40.37
%
0.94
94
944
94
957
0.91
0.10
41.5
22.8
90.53
90.60
fl
0.05
94
944
91
927
0.92
0.09
34.5
18.9
91.93
77.24
umol/l
2.02
91
908
6
56
1.08
0.09
1.0
1.1
—
—
—
0
0
80
783
1.07
0.08
6.4
5.0
1.85
1.93
mu/l
0.34
74
713
80
813
0.95
0.05
6.6
4.6
1.27
1.44
mmol/l
3.21
75
752
63
640
0.97
0.03
5.7
4.2
14.82
14.79
pmol/l
0.03
58
576
82
829
0.96
0.02
7.2
5.2
2.43
2.65
mmol/l
1.28
77
768
0
5
0.00
0.00
0.0
3.0
—
32.40
—
0
5
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
4.2
—
898.60
—
0
5
0
5
0.00
0.00
0.0
1.2
—
99.60
—
0
5
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
1281.71
—
0
7
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
1657.33
—
0
6
0
9
0.00
-0.00
0.0
1.9
—
13.11
—
0
9
0
8
0.00
-0.00
0.0
1.9
—
7.45
—
0
8
0
9
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
13.17
—
0
6
0
6
0.00
-0.00
0.0
1.2
—
84.17
—
0
6
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
3.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
1.14
—
0
6
0
6
0.00
-0.00
0.0
1.5
—
—
—
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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