Other disorders of amino-acid metabolism

E4_AMINO

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 E72
  • Cause of death: ICD-10 E72

2 out of 7 registries used, show all original rules.

173

4. Check minimum number of events

None

173

5. Include endpoints

195

6. Filter based on genotype QC (FinnGen only)

174

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

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

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 174 88 86
Unadjusted period prevalence (%) 0.04 0.03 0.04
Median age at first event (years) 53.94 48.33 59.68

-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
179
Matched controls
1790
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E72.0
ICD-10 Finland
Disorders of amino-acid transport
+∞
57.4
52
*
E72.2
ICD-10 Finland
Disorders of urea cycle metabolism
+∞
33.4
31
*
E72.8
ICD-10 Finland
Other specified disorders of amino-acid metabolism
+∞
26.7
25
*
E72.5
ICD-10 Finland
Disorders of glycine metabolism
+∞
24.5
23
*
503
Kela drug reimbursment
Inborn metabolic disorders
+∞
24.5
23
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
5.4
22.3
55
135
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
4.9
17.4
46
118
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.3
16.8
56
172
103
Kela drug reimbursment
Diabetes, insulin-treated
3.8
16.0
72
272
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
6.3
15.3
28
51
A10AB05
ATC
insulin aspart; parenteral
5.5
15.2
33
71
E72.4
ICD-10 Finland
Disorders of ornithine metabolism
+∞
14.8
14
*
E72.9
ICD-10 Finland
Disorder of amino-acid metabolism, unspecified
+∞
14.8
14
*
C10AA01
ATC
simvastatin; oral
3.4
14.6
92
426
124
Kela drug reimbursment
Inborn metabolic disorders
+∞
13.7
13
*
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
3.7
13.6
54
185
215
Kela drug reimbursment
Diabetes, non-insulin-treated
3.5
13.1
59
219
A10AE04
ATC
insulin glargine; parenteral
4.6
12.7
34
87
E72.3
ICD-10 Finland
Disorders of lysine and hydroxylysine metabolism
+∞
12.6
12
*
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
6.1
12.5
23
42
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
3.4
12.3
60
233
A10BA02
ATC
metformin; oral
3.2
11.9
67
283
A10AC01
ATC
insulin (human); parenteral
4.6
11.8
31
78
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
10.0
11.7
23
26
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
5.2
10.6
23
49
L28
ICPC
Limited function/disability (L)
3.2
10.3
50
192
E11.8
ICD-10 Finland
Type 2 diabetes mellitus, with unspecified complications
4.1
10.2
31
87
A09
ICD-10 Finland
Other gastroenteritis and colitis of infectious and unspecified origin
3.2
10.2
49
187
E87.1
ICD-10 Finland
Hypo-osmolality and hyponatraemia
42.6
10.1
12
*
N10
ICD-10 Finland
Acute tubulo-interstitial nephritis
3.6
9.8
38
126
A10AE05
ATC
insulin detemir; parenteral
5.3
9.8
21
44
N17.9
ICD-10 Finland
Acute renal failure, unspecified
8.9
9.6
20
25
E11.7
ICD-10 Finland
Type 2 diabetes mellitus, with multiple complications
5.2
9.6
21
45
C03CA01
ATC
furosemide; systemic
2.7
9.5
74
366
E72.1
ICD-10 Finland
Disorders of sulfur-bearing amino-acid metabolism
+∞
9.5
9
*
ZXD05
NOMESCO Finland
Urgent procedure
2.7
9.1
70
343
I25.9
ICD-10 Finland
Chronic ischaemic heart disease, unspecified
3.9
8.9
29
85
D64.9
ICD-10 Finland
Anaemia, unspecified
3.6
8.9
33
106
N05CD07
ATC
temazepam; oral
3.5
8.8
34
112
C01DA14
ATC
isosorbide mononitrate; oral
3.4
8.8
37
129
I25.1
ICD-10 Finland
Atherosclerotic heart disease
3.0
8.8
49
202
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.6
8.8
101
600
TK800
NOMESCO Finland
Hemodialysis
12.5
8.7
15
13
T90
ICPC
Diabetes non-insulin dependent
2.9
8.7
53
229
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
29.1
8.6
11
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.6
8.3
63
305
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
3.1
8.1
39
147
M04AA01
ATC
allopurinol; systemic
3.2
8.0
35
125
SPAT1229
SPAT
Assessment of need for aid
4.3
8.0
22
57
A11CC03
ATC
alfacalcidol; systemic
12.6
7.7
13
11
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
12.6
7.7
13
11
A49.9
ICD-10 Finland
Bacterial infection, unspecified
3.3
7.6
31
106
C01DA02
ATC
glyceryl trinitrate; oral, oral aerosol, sublingual, transdermal
2.8
7.5
44
185
J01FF01
ATC
clindamycin; systemic
2.5
7.4
60
298
A07AA11
ATC
rifaximin; oral
+∞
7.3
7
*
E78.9
ICD-10 Finland
Disorder of lipoprotein metabolism, unspecified
16.6
7.3
11
7
D01AE15
ATC
terbinafine; topical
4.0
7.3
22
61
K70.3
ICD-10 Finland
Alcoholic cirrhosis of liver
21.0
7.2
10
5
E87.6
ICD-10 Finland
Hypokalaemia
21.0
7.2
10
5
206
Kela drug reimbursment
Chronic coronary artery disease and dyslipidaemia associated with chronic coronary artery disease
2.9
7.2
40
164
AN1
HP
Coronary angiography
3.7
7.1
24
72
205
Kela drug reimbursment
Chronic hypertension
2.5
7.1
55
266
AA1AD
NOMESCO Finland
CT of head and brain
2.5
7.0
59
297
213
Kela drug reimbursment
Fat metabolism disorder associated with chronic coronary artery disease
4.0
7.0
21
58
E11.00
ICD-10 Finland
Non-insulin dependent diabetes diabetic hypoglycaemic coma
7.7
6.9
15
21
Z49.1
ICD-10 Finland
Extracorporeal dialysis
17.5
6.8
10
6
Z49.0
ICD-10 Finland
Preparatory care for dialysis
41.7
6.8
8
*
SPAT1262
SPAT
Handing over of treatment supplies
2.8
6.8
39
162
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
5.8
6.7
18
34
I10
ICD-10 Finland
Essential (primary) hypertension
2.3
6.6
111
746
A46
ICD-10 Finland
Erysipelas
2.8
6.5
36
146
WZC00
NOMESCO Finland
Treatment plan or consultation
2.3
6.5
74
422
A41.9
ICD-10 Finland
Sepsis, unspecified
5.6
6.5
18
35
I70.2
ICD-10 Finland
Atherosclerosis of arteries of extremities
3.4
6.5
25
82
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
3.4
6.5
25
82
E86
ICD-10 Finland
Volume depletion
72.3
6.5
7
*
PH2AE
NOMESCO Finland
Ultrasound examination of lower leg veins
3.1
6.4
29
105
L04AA06
ATC
mycophenolic acid; systemic
11.6
6.4
11
10
A07AA02
ATC
nystatin; oral
5.8
6.3
17
32
B03BA03
ATC
hydroxocobalamin; parenteral
4.3
6.3
17
43
2700A
ICD-9 Finland
Disorders of amino-acid transport and metabolism, Disturbances of amino-acid transport[CYSTINURIA]
+∞
6.3
6
*
A16AX03
ATC
sodium phenylbutyrate; oral
+∞
6.3
6
*
N16.3*E72.0
ICD-10 Finland
Renal tubulo-interstitial disorders in cystinosis
+∞
6.3
6
*
N18.0
ICD-10 Finland
End-stage renal disease
27.7
6.3
8
*
SPAT1215
SPAT
Assessment of need for medical rehabilitation
8.1
6.2
13
17
B81
ICPC
Anaemia vit B12/folate deficiency
7.1
6.2
14
21
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
9.1
6.2
12
14
127
Kela drug reimbursment
Transplant complication
13.1
6.2
10
8
A12AA04
ATC
calcium carbonate; oral
13.1
6.2
10
8
WX408
NOMESCO Finland
General anesthesy, balanced
2.4
6.1
52
262
A41.0
ICD-10 Finland
Sepsis due to Staphylococcus aureus
7.7
6.0
13
18
R4190
NOMESCO Finland
Nutritional therapy
4.3
6.0
16
40

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
66
188
4.98
22.46
18.0
5.9
1.13
1.10
mmol/l
0.40
60
171
43
90
5.97
20.67
8.9
3.2
115.33
87.49
ng/l
0.55
38
78
53
157
4.38
16.67
11.5
4.1
7.35
7.38
ph
2.25
38
103
52
155
4.32
16.18
11.5
4.0
1.63
2.23
mmol/l
0.47
43
130
43
123
4.29
13.98
5.9
6.4
7.40
7.41
ph
0.80
38
98
37
97
4.55
13.43
6.1
6.3
—
—
—
0
0
61
232
3.47
13.06
5.9
4.5
0.80
0.81
mmol/l
0.55
53
219
11
0
+∞
11.58
2.4
0.0
—
—
—
0
0
113
651
3.00
11.36
19.7
6.2
1.20
1.21
mmol/l
1.22
106
608
44
147
3.64
11.35
17.5
7.2
—
—
—
0
0
40
127
3.77
11.11
4.6
3.5
71.41
66.45
e9/l
0.44
34
99
47
170
3.39
10.69
4.5
3.8
2.03
1.72
%
1.00
41
154
25
63
4.45
9.41
7.0
2.5
0.97
1.53
g/l
2.11
20
56
49
200
3.00
8.97
11.1
5.9
103.20
104.83
mmol/l
1.56
49
200
35
120
3.38
8.55
14.6
8.3
25.55
25.13
mmol/l
0.23
35
120
82
447
2.54
8.46
7.1
3.1
6.54
8.26
mmol/l
3.83
69
377
76
406
2.52
8.12
7.7
4.2
—
—
—
0
0
77
415
2.50
8.06
14.8
3.9
7.39
7.40
ph
0.93
62
295
49
212
2.81
7.99
7.0
2.1
30.28
29.07
s
0.62
49
205
70
362
2.53
7.99
5.6
2.7
347.35
341.76
umol/l
0.15
62
320
98
593
2.44
7.91
3.5
2.0
94.06
98.24
pmol/l
0.34
59
307
75
410
2.43
7.50
8.2
3.6
33.42
8.87
mg/mmol
1.23
51
253
74
404
2.42
7.40
7.3
3.1
185.78
55.61
mg/l
0.85
53
264
50
227
2.67
7.38
2.9
2.1
—
—
—
0
0
52
247
2.56
6.96
2.7
1.7
1490.17
1264.14
nmol/l
0.56
42
186
110
729
2.32
6.86
23.8
6.4
1.20
1.21
mmol/l
0.50
92
634
69
386
2.28
6.35
3.6
2.0
3.77
2.94
mg/l
1.57
62
345
16
39
4.41
6.23
1.4
1.3
227.00
282.42
ug/g
—
10
20
12
16
7.95
5.73
3.1
1.1
—
—
—
0
0
83
520
2.11
5.60
10.7
6.5
—
—
—
0
0
14
25
5.98
5.50
5.0
5.6
—
—
—
0
0
36
160
2.56
5.44
5.2
3.2
8.44
7.36
umol/l
0.19
27
138
9
8
11.76
5.35
1.2
1.1
133.00
134.63
nmol/l
—
9
8
39
183
2.45
5.25
1.4
1.2
—
—
—
0
0
99
675
2.04
5.20
6.9
2.8
342.64
123.86
ug/l
1.58
92
632
37
176
2.39
4.82
2.7
1.7
—
—
—
0
0
72
453
1.99
4.60
5.2
2.3
—
—
—
0
0
64
395
1.97
4.27
2.4
1.6
20.64
19.70
nmol/l
0.20
51
333
79
528
1.89
4.12
5.7
3.7
79.61
38.30
ng/l
0.73
66
384
76
502
1.89
4.11
7.7
3.5
30.70
204.49
e6/l
0.76
69
393
82
562
1.85
3.90
9.4
4.1
239.49
55.11
e6/l
0.87
68
405
32
158
2.25
3.80
13.8
6.7
94.11
94.66
%
0.17
32
152
6
5
12.35
3.79
9.3
7.8
—
—
—
0
0
68
443
1.86
3.78
5.7
2.6
64.89
77.44
u/l
0.39
62
408
86
603
1.82
3.77
5.5
3.7
6.15
6.21
ph
0.25
44
340
14
45
3.29
3.74
1.4
1.3
—
58.00
—
0
5
17
62
2.92
3.70
2.6
2.2
—
—
—
0
0
17
62
2.92
3.70
1.4
1.3
—
—
—
0
0
105
787
1.81
3.64
9.6
6.6
0.04
0.04
e9/l
0.62
96
680
16
57
2.98
3.63
1.0
1.1
—
—
—
0
0
19
75
2.72
3.60
9.7
2.8
0.57
0.66
%
0.91
19
75
19
75
2.72
3.60
9.7
2.8
0.95
1.36
%
1.38
19
75
66
435
1.82
3.48
4.5
2.8
—
—
—
0
0
104
785
1.78
3.45
9.7
6.6
0.64
0.58
e9/l
1.55
96
681
105
798
1.76
3.37
9.6
6.6
1.99
1.83
e9/l
0.87
99
715
15
54
2.94
3.34
1.0
1.5
—
—
—
0
0
29
145
2.19
3.34
15.3
7.2
112.76
121.21
g/l
1.46
29
140
18
72
2.67
3.33
5.6
3.6
36.99
36.90
°c
0.23
18
72
33
174
2.10
3.33
14.3
6.6
7.43
7.42
ph
0.15
20
101
65
433
1.79
3.28
7.4
3.2
0.49
0.40
e6/l
0.17
57
324
22
99
2.39
3.22
15.0
7.4
93.22
93.79
%
0.17
22
99
17
68
2.66
3.15
4.3
9.3
8.71
9.20
kpa
0.61
17
68
55
353
1.81
3.12
1.4
1.4
1.08
1.88
u/ml
0.45
14
79
13
45
3.04
3.09
8.9
3.1
7.42
7.41
ph
0.11
13
45
35
194
2.00
3.09
1.4
1.5
800.00
597.21
titre
—
5
43
105
812
1.71
3.05
11.2
6.8
0.24
0.20
e9/l
0.49
99
719
11
31
3.71
3.05
9.2
3.3
9.11
8.53
kpa
0.40
11
31
11
31
3.71
3.05
9.2
3.3
4.80
4.95
kpa
0.35
11
31
18
76
2.52
3.00
17.2
7.6
14.66
15.64
%
0.75
18
71
5
5
10.23
2.99
4.0
1.6
82.32
178.32
ug/l
—
5
5
32
174
2.02
2.97
14.7
6.6
11.19
12.11
kpa
0.47
32
166
32
174
2.02
2.97
14.7
6.6
5.08
5.21
kpa
0.26
32
165
51
327
1.78
2.88
1.8
1.5
3.64
2.59
g/l
1.38
32
179
10
28
3.72
2.83
16.3
2.7
63.77
63.05
%
—
10
28
9
23
4.06
2.81
6.1
4.8
8.00
5.65
pmol/l
—
9
23
9
23
4.06
2.81
2.1
3.3
4.87
3.62
e9/l
—
9
23
6
10
6.16
2.72
1.5
1.6
—
—
—
0
0
9
24
3.89
2.71
2.1
1.7
—
—
—
0
0
9
24
3.89
2.71
2.1
1.7
—
—
—
0
0
9
24
3.89
2.71
2.1
1.7
—
—
—
0
0
9
24
3.89
2.71
2.1
1.7
—
—
—
0
0
87
654
1.64
2.71
30.9
13.6
1.40
1.27
inr
1.14
78
548
50
325
1.75
2.68
5.5
1.6
10.13
1.10
mg/l
1.30
38
251
10
30
3.47
2.65
2.0
3.2
15.11
15.91
%
—
10
30
96
746
1.62
2.57
10.3
6.8
28.56
27.97
%
0.16
91
712
41
257
1.77
2.47
7.0
3.0
3.06
1.57
e6/l
0.49
21
132
24
126
2.04
2.45
9.5
3.0
7.32
7.32
ph
0.02
19
87
7
17
4.24
2.38
2.6
3.4
64.29
61.68
%
—
7
17
6
13
4.73
2.29
1.2
1.5
—
—
—
0
0
7
18
4.00
2.27
1.4
1.6
32.97
31.44
g/l
—
7
18
9
29
3.21
2.26
5.4
2.6
—
—
—
0
0
6
14
4.39
2.17
2.2
1.8
—
—
—
0
0
19
96
2.10
2.15
15.1
6.5
23.74
24.89
mmol/l
0.46
19
90
60
432
1.58
2.13
6.4
4.4
0.00
0.00
estimate
-0.00
17
145
5
10
5.11
2.08
2.2
2.7
—
—
—
0
0
7
21
3.42
1.98
2.9
1.6
89.89
88.26
%
—
7
21
10
39
2.65
1.97
1.9
2.6
55.20
54.85
%
—
10
39
10
39
2.65
1.97
1.1
1.2
—
—
—
0
0
10
39
2.65
1.97
2.0
1.5
169.20
286.21
u/ml
—
5
24
35
516
0.60
1.97
4.9
2.8
—
—
—
0
0
18
93
2.04
1.93
4.3
2.1
—
—
—
0
0
12
52
2.40
1.92
4.7
5.3
846.00
206.18
mg/l
—
6
28
6
17
3.61
1.85
1.2
1.3
—
—
—
0
0
5
12
4.25
1.83
1.0
1.2
—
—
—
0
0
5
12
4.25
1.83
1.2
1.1
—
—
—
0
0
5
12
4.25
1.83
4.0
3.3
8.94
11.44
%
—
5
12
124
1070
1.52
1.78
5.5
4.0
14.73
14.80
pmol/l
0.12
115
982
7
24
2.99
1.74
2.0
1.8
2.26
1.55
mmol/l
—
7
24
5
13
3.92
1.72
1.0
1.2
—
—
—
0
0
28
176
1.70
1.67
3.0
1.5
—
—
—
0
0
92
755
1.45
1.66
6.7
4.0
0.00
0.00
estimate
-0.00
19
157
13
63
2.15
1.64
1.9
1.5
—
—
—
0
0
7
26
2.76
1.59
1.7
1.3
—
—
—
0
0
104
879
1.44
1.57
15.2
10.0
3.98
4.05
e9/l
0.08
99
767
5
15
3.40
1.53
1.4
2.0
—
—
—
0
0
5
15
3.40
1.53
2.2
1.9
1.00
1.00
index
—
5
15
5
15
3.40
1.53
1.6
1.6
—
—
—
0
0
9
37
2.51
1.50
1.4
1.5
—
—
—
0
0
92
766
1.41
1.48
6.8
4.0
0.00
0.00
estimate
-0.00
20
159
16
88
1.90
1.47
11.8
3.9
—
—
—
0
0
6
22
2.78
1.44
1.2
1.2
—
—
—
0
0
82
673
1.40
1.42
6.0
2.7
—
—
estimate
—
0
0
15
82
1.91
1.40
1.1
1.4
37.83
111.71
u/ml
—
6
39
46
340
1.48
1.40
5.9
4.2
1.02
1.02
kg/l
0.10
34
215
92
772
1.39
1.39
6.9
4.1
0.00
1.95
estimate
0.50
18
154
20
121
1.74
1.37
4.8
2.5
66.02
66.80
g/l
0.16
20
112
0
38
0.00
1.36
0.0
3.3
—
—
—
0
0
0
41
0.00
1.33
0.0
1.3
—
—
—
0
0
9
43
2.15
1.32
2.1
1.5
—
—
—
0
0
8
35
2.34
1.28
1.1
1.1
—
—
—
0
0
19
116
1.71
1.27
7.9
4.0
—
—
—
0
0
10
49
2.10
1.24
1.7
1.5
—
—
—
0
0
28
191
1.55
1.23
1.9
1.6
—
—
—
0
0
0
33
0.00
1.17
0.0
1.5
—
—
—
0
0
5
20
2.54
1.16
2.2
3.7
—
—
—
0
0
154
1434
1.53
1.16
37.5
15.1
27.98
25.04
mg/l
0.48
140
1162
7
30
2.39
1.13
1.1
1.5
—
—
—
0
0
7
32
2.23
1.09
1.1
1.6
—
—
—
0
0
57
457
1.36
1.09
6.7
5.5
—
—
—
0
0
29
206
1.49
1.07
3.9
2.9
4.44
4.93
e9/l
0.13
22
179
9
45
2.05
1.06
2.0
2.0
—
—
—
0
0
9
47
1.96
1.04
1.3
2.9
—
—
—
0
0
5
23
2.21
0.98
1.4
1.8
290.56
20.85
ng/l
—
5
23
31
232
1.41
0.89
2.9
1.7
—
—
—
0
0
12
72
1.71
0.87
1.1
1.2
—
—
—
0
0
10
57
1.80
0.85
2.4
1.7
—
—
—
0
0
140
1303
1.34
0.85
6.6
4.8
1.98
1.90
mu/l
0.35
128
1187
36
453
0.74
0.83
1.8
1.4
—
—
—
0
0
23
311
0.70
0.82
3.9
3.1
0.75
0.76
ug/l
0.02
17
206
10
58
1.77
0.81
2.1
1.5
—
—
—
0
0
6
33
1.85
0.80
2.2
1.2
—
—
—
0
0
34
264
1.36
0.79
5.7
3.6
539.54
698.77
ng/l
0.17
24
189
11
67
1.68
0.77
2.4
2.1
—
0.00
estimate
—
0
25
35
275
1.34
0.76
2.9
2.1
—
—
—
0
0
21
151
1.44
0.75
1.6
1.7
—
—
—
0
0
18
127
1.46
0.71
1.1
1.2
—
—
—
0
0
10
61
1.68
0.70
2.1
1.5
—
—
—
0
0
79
697
1.24
0.69
16.9
10.9
0.00
0.00
e9/l
0.04
70
568
11
165
0.64
0.66
1.2
1.6
—
—
—
0
0
10
62
1.65
0.66
1.4
1.5
—
—
—
0
0
10
62
1.65
0.66
2.1
1.5
—
—
—
0
0
135
1271
1.25
0.61
6.2
4.0
1.51
1.25
mmol/l
2.29
123
1162
17
123
1.42
0.60
1.4
1.4
—
—
—
0
0
7
115
0.59
0.60
1.3
1.3
—
—
—
0
0
9
62
1.48
0.54
2.3
1.5
—
—
—
0
0
47
405
1.22
0.50
4.9
2.9
—
0.15
—
0
13
22
173
1.31
0.49
1.3
1.3
—
—
—
0
0
135
1283
1.21
0.48
10.5
5.7
42.87
38.97
mmol/mol
3.01
123
1204
62
552
1.19
0.47
3.0
1.8
1.78
1.34
mmol/l
2.51
53
466
5
84
0.58
0.46
1.2
1.3
—
63.50
—
0
6
139
1328
1.21
0.45
7.1
4.6
1.35
1.46
mmol/l
2.10
126
1227
0
15
0.00
0.41
0.0
3.1
—
—
—
0
0
0
17
0.00
0.41
0.0
1.4
—
0.39
—
0
12
0
19
0.00
0.39
0.0
1.2
—
—
—
0
0
38
434
0.84
0.38
8.1
3.4
0.00
0.19
estimate
0.50
14
130
18
144
1.28
0.37
1.5
1.6
—
—
—
0
0
21
172
1.25
0.36
1.5
1.4
—
—
—
0
0
139
1338
1.17
0.35
7.1
4.6
4.27
4.60
mmol/l
3.29
127
1246
14
110
1.30
0.33
2.2
1.5
—
—
—
0
0
7
52
1.36
0.31
1.4
1.6
—
4.84
—
0
13
11
84
1.33
0.31
3.5
1.6
0.35
0.30
mg/l
—
6
34
141
1364
1.16
0.30
7.4
5.2
2.39
2.69
mmol/l
3.63
127
1261
16
130
1.25
0.30
3.3
5.0
0.78
0.55
%
—
9
40
151
1469
1.18
0.29
35.1
13.0
—
—
—
0
0
16
131
1.24
0.28
4.1
2.2
11.92
14.12
nmol/l
0.60
11
120
11
139
0.78
0.28
3.1
2.3
6.25
6.11
ph
—
6
94
5
73
0.68
0.26
1.2
1.1
—
—
—
0
0
12
148
0.80
0.25
2.5
2.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
104.28
—
0
11
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
6
49
1.23
0.20
1.5
1.8
—
—
—
0
0
6
53
1.14
0.19
18.5
5.7
0.62
0.85
%
—
6
47
7
59
1.19
0.18
17.0
5.5
1.39
1.54
%
—
7
54
49
520
0.92
0.15
5.2
5.4
2.18
2.78
ug/l
0.30
38
463
25
229
1.11
0.13
1.2
1.4
32.25
13.00
u/ml
—
6
97
16
143
1.13
0.12
3.1
4.9
0.38
0.83
%
—
8
49
15
134
1.13
0.11
3.3
5.8
0.00
0.31
%
—
7
35
36
343
1.06
0.08
6.9
5.9
—
—
—
0
0
61
591
1.05
0.08
6.9
4.0
0.00
0.00
estimate
-0.00
14
139
9
87
1.04
0.07
1.0
1.2
—
—
—
0
0
131
1326
0.96
0.06
7.0
4.8
6.41
5.89
mmol/l
2.35
118
1214
122
1209
1.03
0.03
44.5
18.5
14.27
13.63
%
4.34
122
1197
56
552
1.02
0.01
2.4
2.1
—
—
—
0
0
13
134
0.97
0.00
3.2
5.1
0.00
0.13
%
—
5
40
26
255
1.02
0.00
1.3
1.4
9.45
31.61
iu/ml
—
6
86
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
3.7
—
1.96
—
0
6
0
6
0.00
0.00
0.0
1.0
—
173.33
—
0
6
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
0.02
—
0
5
5
55
0.91
-0.00
2.0
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
0.00
—
0
7
0
7
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
57.20
—
0
5
0
9
0.00
-0.00
0.0
1.2
—
5.44
—
0
9
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
19
190
1.00
-0.00
1.4
2.8
74.00
109.61
ug/g
0.63
14
152
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
66.57
—
0
7
0
8
0.00
-0.00
0.0
1.5
—
0.40
—
0
8
0
8
0.00
-0.00
0.0
4.4
—
59.75
—
0
8
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
25.64
—
0
8
0
8
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0

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]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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