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

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

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.

155

4. Check minimum number of events

None

155

5. Include endpoints

174

6. Filter based on genotype QC (FinnGen only)

168

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 168 85 83
Unadjusted period prevalence (%) 0.03 0.03 0.04
Median age at first event (years) 54.41 47.97 61.01

-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
173
Matched controls
1730
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E72.0
ICD-10 Finland
Disorders of amino-acid transport
+∞
56.4
51
*
E72.2
ICD-10 Finland
Disorders of urea cycle metabolism
+∞
30.1
28
*
E72.8
ICD-10 Finland
Other specified disorders of amino-acid metabolism
+∞
25.7
24
*
503
Kela drug reimbursment
Inborn metabolic disorders
+∞
24.6
23
*
E72.5
ICD-10 Finland
Disorders of glycine metabolism
+∞
23.5
22
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
5.3
19.9
50
124
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
5.6
19.5
44
99
103
Kela drug reimbursment
Diabetes, insulin-treated
4.0
17.4
71
254
C10AA01
ATC
simvastatin; oral
3.5
14.9
91
416
A10AB05
ATC
insulin aspart; parenteral
5.5
14.9
32
68
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
7.4
14.9
23
35
215
Kela drug reimbursment
Diabetes, non-insulin-treated
3.8
14.4
58
202
A10AE04
ATC
insulin glargine; parenteral
5.1
13.8
33
77
E72.9
ICD-10 Finland
Disorder of amino-acid metabolism, unspecified
+∞
13.7
13
*
E72.4
ICD-10 Finland
Disorders of ornithine metabolism
+∞
13.7
13
*
124
Kela drug reimbursment
Inborn metabolic disorders
+∞
13.7
13
*
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
6.2
13.5
25
46
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.9
13.3
50
165
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
3.5
12.8
58
217
E72.3
ICD-10 Finland
Disorders of lysine and hydroxylysine metabolism
+∞
12.7
12
*
A10AC01
ATC
insulin (human); parenteral
4.9
12.6
31
74
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
10.8
11.6
22
23
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
3.6
11.4
47
164
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
5.6
10.8
22
44
A09
ICD-10 Finland
Other gastroenteritis and colitis of infectious and unspecified origin
3.3
10.5
48
178
E11.7
ICD-10 Finland
Type 2 diabetes mellitus, with multiple complications
5.6
10.3
21
42
N10
ICD-10 Finland
Acute tubulo-interstitial nephritis
3.7
10.2
37
118
A10BA02
ATC
metformin; oral
3.0
10.1
61
266
N17.9
ICD-10 Finland
Acute renal failure, unspecified
9.7
10.1
20
23
E87.1
ICD-10 Finland
Hypo-osmolality and hyponatraemia
32.0
9.5
12
*
T90
ICPC
Diabetes non-insulin dependent
3.1
9.5
51
207
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.7
9.5
95
536
E72.1
ICD-10 Finland
Disorders of sulfur-bearing amino-acid metabolism
+∞
9.5
9
*
A10AE05
ATC
insulin detemir; parenteral
5.3
9.3
20
42
N05CD07
ATC
temazepam; oral
3.6
9.3
34
109
C01DA14
ATC
isosorbide mononitrate; oral
3.4
9.1
37
127
D64.9
ICD-10 Finland
Anaemia, unspecified
3.8
9.0
31
95
I25.1
ICD-10 Finland
Atherosclerotic heart disease
3.0
8.9
48
195
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
3.3
8.8
39
141
C03CA01
ATC
furosemide; systemic
2.7
8.8
70
350
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
29.2
8.6
11
*
L28
ICPC
Limited function/disability (L)
3.1
8.5
43
168
M04AA01
ATC
allopurinol; systemic
3.4
8.4
34
116
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.7
8.3
60
284
ZXD05
NOMESCO Finland
Urgent procedure
2.6
8.3
67
336
I25.9
ICD-10 Finland
Chronic ischaemic heart disease, unspecified
3.7
8.1
28
86
SPAT1229
SPAT
Assessment of need for aid
4.3
8.0
22
57
TK800
NOMESCO Finland
Hemodialysis
11.6
8.0
14
13
D01AE15
ATC
terbinafine; topical
4.4
7.9
21
53
A11CC03
ATC
alfacalcidol; systemic
12.7
7.7
13
11
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
12.7
7.7
13
11
E78.9
ICD-10 Finland
Disorder of lipoprotein metabolism, unspecified
19.4
7.7
11
6
J01FF01
ATC
clindamycin; systemic
2.6
7.6
59
287
205
Kela drug reimbursment
Chronic hypertension
2.6
7.6
55
259
AA1AD
NOMESCO Finland
CT of head and brain
2.6
7.5
54
254
A07AA11
ATC
rifaximin; oral
+∞
7.3
7
*
E87.6
ICD-10 Finland
Hypokalaemia
21.1
7.2
10
5
I10
ICD-10 Finland
Essential (primary) hypertension
2.4
7.2
107
696
E11.8
ICD-10 Finland
Type 2 diabetes mellitus, with unspecified complications
3.6
7.2
25
77
SPAT1262
SPAT
Handing over of treatment supplies
2.9
7.2
39
158
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
6.4
7.1
18
31
206
Kela drug reimbursment
Chronic coronary artery disease and dyslipidaemia associated with chronic coronary artery disease
2.9
7.1
39
159
C01DA02
ATC
glyceryl trinitrate; oral, oral aerosol, sublingual, transdermal
2.8
7.0
43
185
213
Kela drug reimbursment
Fat metabolism disorder associated with chronic coronary artery disease
4.0
7.0
21
58
L04AA06
ATC
mycophenolic acid; systemic
14.6
7.0
11
8
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
3.7
7.0
23
68
A49.9
ICD-10 Finland
Bacterial infection, unspecified
3.2
6.9
30
106
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
17.6
6.8
10
6
Z49.0
ICD-10 Finland
Preparatory care for dialysis
41.7
6.8
8
*
I70.2
ICD-10 Finland
Atherosclerosis of arteries of extremities
3.5
6.8
25
80
A41.9
ICD-10 Finland
Sepsis, unspecified
5.6
6.5
18
35
A07AA02
ATC
nystatin; oral
6.0
6.5
17
31
A12AA04
ATC
calcium carbonate; oral
15.1
6.5
10
7
E86
ICD-10 Finland
Volume depletion
72.4
6.5
7
*
C10AA05
ATC
atorvastatin; oral
2.3
6.4
67
371
L30.9
ICD-10 Finland
Dermatitis, unspecified
2.7
6.3
39
168
B03BA03
ATC
hydroxocobalamin; parenteral
4.3
6.3
17
43
K70.3
ICD-10 Finland
Alcoholic cirrhosis of liver
18.9
6.3
9
5
A06AD11
ATC
lactulose; oral
2.9
6.3
33
130
N18.0
ICD-10 Finland
End-stage renal disease
27.8
6.3
8
*
A16AX03
ATC
sodium phenylbutyrate; oral
+∞
6.3
6
*
N16.3*E72.0
ICD-10 Finland
Renal tubulo-interstitial disorders in cystinosis
+∞
6.3
6
*
2700A
ICD-9 Finland
Disorders of amino-acid transport and metabolism, Disturbances of amino-acid transport[CYSTINURIA]
+∞
6.3
6
*
XCK10
NOMESCO Finland
Photography of fundus of eye
3.3
6.3
25
84
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
9.1
6.2
12
14
127
Kela drug reimbursment
Transplant complication
13.2
6.2
10
8
N18.8
ICD-10 Finland
Other chronic renal failure
13.2
6.2
10
8
AN1
HP
Coronary angiography
3.4
6.2
23
74
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
4.0
6.1
18
49
SPAT1215
SPAT
Assessment of need for medical rehabilitation
7.7
6.0
13
18

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
61
156
5.50
23.83
16.9
6.1
1.15
1.13
mmol/l
0.18
55
140
56
160
4.70
18.71
6.3
2.2
21.00
23.05
%
0.34
45
137
61
194
4.31
17.61
6.6
2.2
10.54
13.40
umol/l
2.40
56
179
35
87
4.79
13.60
5.8
6.3
—
—
—
0
0
44
131
4.16
13.57
11.8
4.2
1.25
2.10
mmol/l
0.64
36
103
77
344
3.23
12.68
6.1
3.0
6.52
8.02
mmol/l
2.42
64
285
55
203
3.51
12.32
5.3
4.6
0.80
0.81
mmol/l
0.49
47
188
11
0
+∞
11.58
2.3
0.0
—
—
—
0
0
41
130
3.82
11.46
16.2
5.9
—
—
—
0
0
69
307
3.08
11.20
6.3
3.0
168.55
273.73
mg/l
0.19
51
197
24
53
5.10
10.61
6.6
2.6
0.90
1.55
g/l
2.70
19
45
102
577
2.87
10.45
18.4
5.6
1.20
1.21
mmol/l
0.38
95
532
43
151
3.46
10.25
4.3
3.7
2.06
1.74
%
0.89
36
138
89
474
2.81
10.15
3.1
1.9
94.08
97.20
pmol/l
0.22
55
242
69
322
2.90
10.11
7.1
3.4
32.06
9.11
mg/mmol
1.04
48
194
9
0
+∞
9.46
3.0
0.0
33.36
—
mg/l
—
9
0
72
356
2.75
9.32
13.1
3.9
7.41
7.40
ph
0.12
17
73
93
527
2.65
9.11
12.9
4.5
34.18
35.69
g/l
1.24
88
488
65
320
2.65
8.32
5.3
2.4
348.31
7350.26
umol/l
1.78
55
277
103
635
2.54
8.16
21.2
5.9
1.21
1.21
mmol/l
0.38
84
543
64
316
2.63
8.11
3.4
1.9
3.99
3.13
mg/l
1.45
56
282
45
186
2.92
8.02
6.6
2.1
30.66
29.40
s
0.59
45
179
31
104
3.41
7.82
14.1
7.0
25.11
24.92
mmol/l
0.09
31
104
75
417
2.41
7.23
5.8
3.3
2.32
2.35
mmol/l
0.64
65
372
45
199
2.70
6.99
2.9
2.0
—
—
—
0
0
38
157
2.82
6.70
12.1
4.8
103.21
104.72
mmol/l
1.11
38
157
51
245
2.53
6.68
2.6
1.7
1512.61
1259.35
nmol/l
0.64
41
184
14
21
7.15
6.17
4.9
5.3
—
—
—
0
0
9
6
15.72
5.97
1.2
1.2
133.00
132.50
nmol/l
—
9
6
87
548
2.18
5.94
6.3
2.5
362.01
118.96
ug/l
1.60
79
499
64
359
2.24
5.81
8.0
3.9
—
—
—
0
0
11
13
8.95
5.65
3.1
1.1
—
—
—
0
0
9
7
13.47
5.64
3.8
2.4
28.41
28.43
umol/l
—
9
7
52
278
2.24
5.23
2.1
1.5
21.58
20.36
nmol/l
0.23
41
236
15
32
5.03
5.13
1.5
1.3
227.00
314.66
ug/g
—
10
17
35
161
2.47
4.92
2.5
1.7
—
—
—
0
0
118
876
2.09
4.83
7.8
4.2
—
—
—
0
0
64
390
2.02
4.49
5.0
2.2
—
—
—
0
0
31
142
2.44
4.38
5.5
3.0
9.22
8.37
umol/l
0.12
22
120
7
6
12.08
4.31
33.6
44.2
7.80
8.30
ug/l
—
7
6
17
58
3.14
4.14
1.4
1.3
—
—
—
0
0
71
461
1.92
4.08
5.6
3.6
87.10
44.45
ng/l
0.65
59
323
47
269
2.03
3.85
4.9
1.7
10.36
0.99
mg/l
1.31
37
205
33
166
2.22
3.76
1.4
1.2
—
—
—
0
0
51
303
1.97
3.76
2.4
1.6
1.76
1.37
mmol/l
1.65
44
254
20
80
2.70
3.70
14.7
5.6
94.30
94.27
%
0.01
20
80
15
51
3.13
3.67
1.0
1.1
—
—
—
0
0
94
684
1.82
3.66
8.4
6.0
0.03
0.04
e9/l
0.96
87
594
10
21
4.99
3.61
14.8
3.5
—
—
—
0
0
10
21
4.99
3.61
4.0
11.9
—
—
—
0
0
95
703
1.78
3.41
9.9
6.1
0.22
0.21
e9/l
0.19
90
623
93
684
1.78
3.41
8.5
5.9
0.64
0.58
e9/l
1.41
87
596
81
573
1.78
3.39
29.4
13.9
1.20
1.24
inr
0.16
26
161
58
373
1.83
3.32
6.6
3.1
—
—
—
0
0
29
146
2.18
3.29
14.2
5.6
4.99
5.15
kpa
0.31
29
139
29
146
2.18
3.29
14.2
5.6
11.56
11.73
kpa
0.06
29
140
16
61
2.79
3.23
4.4
9.3
8.74
9.18
kpa
0.47
16
61
87
637
1.74
3.17
10.1
7.0
—
—
—
0
0
86
628
1.73
3.16
8.7
6.1
0.53
0.64
%
1.12
81
578
9
20
4.69
3.16
2.1
3.5
4.87
3.67
e9/l
—
9
20
63
421
1.78
3.15
7.2
3.3
31.54
218.75
e6/l
0.65
56
325
15
56
2.84
3.15
2.9
2.1
—
—
—
0
0
46
279
1.88
3.14
1.7
1.4
3.66
2.57
g/l
1.28
30
153
69
475
1.75
3.11
8.5
4.0
87.81
55.24
e6/l
0.35
56
344
8
16
5.19
3.09
6.8
5.7
—
—
—
0
0
11
31
3.72
3.05
9.2
3.3
4.80
4.95
kpa
0.35
11
31
11
31
3.72
3.05
9.2
3.3
9.11
8.53
kpa
0.40
11
31
58
382
1.78
3.03
4.2
2.6
—
—
—
0
0
12
37
3.41
3.00
9.0
3.2
7.42
7.43
ph
0.09
12
31
5
5
10.24
2.99
10.2
7.8
—
—
—
0
0
58
385
1.76
2.94
6.6
3.0
0.53
0.38
e6/l
0.28
50
288
9
22
4.26
2.92
2.0
3.6
56.00
54.18
%
—
9
22
87
647
1.69
2.92
8.9
6.1
3.17
2.99
%
0.18
82
597
89
669
1.68
2.85
9.3
6.2
29.46
28.59
%
0.24
83
624
87
651
1.68
2.83
10.0
6.4
9.02
8.52
%
0.85
82
605
46
289
1.81
2.79
4.4
3.9
—
—
—
0
0
23
114
2.17
2.71
9.0
2.9
—
—
—
0
0
46
295
1.76
2.59
1.3
1.3
1.08
1.55
u/ml
0.24
14
66
37
230
1.77
2.30
5.4
2.8
1.85
1.49
e6/l
0.21
19
129
85
657
1.58
2.27
9.4
6.1
54.70
55.93
%
0.35
79
611
5
9
5.68
2.23
2.2
2.8
—
—
—
0
0
7
19
3.79
2.17
20.3
2.9
79.53
65.52
%
—
7
19
113
941
1.58
2.13
5.0
3.6
14.69
14.75
pmol/l
0.08
102
852
5
10
5.11
2.08
1.2
1.3
—
—
—
0
0
7
20
3.60
2.08
3.1
1.6
—
—
—
0
0
6
15
4.10
2.05
1.0
1.3
—
—
—
0
0
13
57
2.38
2.03
21.8
7.7
—
—
—
0
0
7
21
3.43
1.98
2.7
1.6
90.17
88.26
%
—
7
21
7
21
3.43
1.98
1.4
1.3
—
—
—
0
0
6
16
3.84
1.95
2.0
2.7
—
—
—
0
0
11
46
2.49
1.89
4.8
5.2
0.57
0.19
g/l
—
5
25
25
147
1.82
1.86
3.0
1.5
—
—
—
0
0
12
53
2.36
1.85
1.8
1.5
—
—
—
0
0
5
12
4.26
1.83
1.0
1.2
—
—
—
0
0
13
60
2.26
1.83
6.9
3.5
—
—
—
0
0
7
23
3.13
1.82
2.0
1.9
2.26
1.53
mmol/l
—
7
23
7
23
3.13
1.82
6.7
2.3
—
—
—
0
0
34
222
1.66
1.77
5.1
3.6
622.25
766.94
ng/l
0.15
24
161
5
13
3.93
1.72
1.8
3.0
67.60
62.77
%
—
5
13
16
84
2.00
1.66
11.8
3.7
—
—
—
0
0
15
77
2.04
1.65
4.9
2.0
—
—
—
0
0
95
793
1.44
1.56
13.4
9.3
3.95
4.02
e9/l
0.08
90
693
8
33
2.49
1.56
1.1
1.2
—
—
—
0
0
147
1339
1.65
1.56
33.4
13.4
23.24
25.13
mg/l
0.32
127
1035
5
15
3.40
1.53
2.2
1.5
—
—
—
0
0
9
37
2.51
1.50
1.7
1.6
—
—
—
0
0
9
38
2.44
1.48
1.1
1.2
—
—
—
0
0
12
59
2.11
1.47
13.1
2.8
0.60
0.71
%
0.63
12
59
19
111
1.80
1.46
7.7
3.8
—
—
—
0
0
46
339
1.49
1.43
7.1
4.4
0.00
0.00
estimate
-0.00
15
109
7
29
2.47
1.40
1.1
1.4
—
—
—
0
0
47
350
1.47
1.39
6.7
6.0
—
—
—
0
0
6
23
2.66
1.38
1.0
1.7
—
—
—
0
0
5
17
3.00
1.37
2.4
1.4
—
—
—
0
0
12
61
2.04
1.36
13.1
2.8
0.86
1.32
%
1.16
12
61
0
37
0.00
1.36
0.0
3.2
—
—
—
0
0
75
611
1.40
1.36
7.7
5.2
0.00
0.00
estimate
-0.00
16
111
29
197
1.57
1.30
2.7
1.7
—
—
—
0
0
5
18
2.83
1.29
2.2
4.1
—
—
—
0
0
25
165
1.60
1.26
1.9
1.5
—
—
—
0
0
75
618
1.38
1.25
6.2
3.9
0.00
0.00
estimate
-0.00
17
120
8
37
2.22
1.23
1.9
1.6
—
—
—
0
0
31
425
0.67
1.20
4.7
2.5
—
—
—
0
0
8
38
2.16
1.20
5.3
3.4
—
—
—
0
0
131
1188
1.42
1.17
5.7
4.1
2.01
1.91
mu/l
0.49
118
1065
75
623
1.36
1.17
6.2
3.9
0.00
0.00
estimate
-0.00
15
111
5
20
2.54
1.16
1.0
1.7
—
—
—
0
0
19
121
1.64
1.11
1.4
1.6
—
—
—
0
0
7
33
2.17
1.07
1.9
2.1
—
—
—
0
0
9
45
2.05
1.06
1.7
1.5
—
—
—
0
0
7
34
2.10
1.04
1.3
1.5
—
—
—
0
0
19
279
0.64
1.02
3.7
3.0
0.53
0.74
ug/l
0.78
14
189
11
61
1.86
1.01
1.1
1.2
—
—
—
0
0
127
1158
1.36
1.00
9.5
5.1
43.84
39.46
mmol/mol
2.91
114
1076
9
49
1.88
1.00
1.7
1.5
—
—
—
0
0
9
49
1.88
1.00
1.7
1.5
—
—
—
0
0
20
133
1.57
1.00
1.6
1.7
—
—
—
0
0
46
362
1.37
0.99
5.6
3.3
—
—
—
0
0
0
29
0.00
0.98
0.0
1.3
—
—
—
0
0
0
31
0.00
0.97
0.0
1.3
—
—
—
0
0
16
105
1.58
0.85
4.4
2.2
3.46
6.97
e9/l
—
10
83
107
967
1.28
0.81
5.8
4.1
20.62
11.81
mm/h
3.25
92
890
8
48
1.70
0.80
1.8
1.5
—
—
—
0
0
128
1187
1.30
0.77
5.8
3.6
1.54
1.26
mmol/l
2.50
116
1073
16
108
1.53
0.76
3.6
3.4
—
—
—
0
0
71
617
1.26
0.73
14.9
8.9
0.00
0.00
e9/l
0.05
63
497
7
41
1.74
0.71
1.4
3.0
—
—
—
0
0
131
1224
1.29
0.70
6.4
4.0
1.33
1.47
mmol/l
3.09
118
1116
31
244
1.33
0.67
2.9
1.9
—
—
—
0
0
8
49
1.66
0.63
1.0
1.5
—
—
—
0
0
134
1263
1.27
0.62
6.6
4.4
2.44
2.75
mmol/l
2.96
121
1147
131
1233
1.26
0.60
6.4
4.0
4.33
4.63
mmol/l
2.38
119
1133
147
1403
1.32
0.60
19.1
9.6
26.20
25.64
u/l
0.14
141
1353
15
108
1.43
0.55
1.3
1.4
—
—
—
0
0
6
98
0.60
0.53
4.3
2.6
—
—
—
0
0
94
868
1.18
0.48
4.9
3.6
—
—
—
0
0
14
103
1.39
0.47
3.6
2.0
10.74
14.13
nmol/l
—
9
91
19
148
1.32
0.46
1.5
1.3
—
—
—
0
0
19
150
1.30
0.42
1.2
1.3
—
—
—
0
0
0
15
0.00
0.41
0.0
1.4
—
0.43
—
0
10
7
105
0.65
0.40
1.3
1.3
—
—
—
0
0
144
1388
1.22
0.40
34.0
12.0
—
—
—
0
0
0
19
0.00
0.39
0.0
1.2
—
—
—
0
0
10
135
0.72
0.38
1.2
1.5
—
—
—
0
0
33
380
0.84
0.36
1.7
1.4
—
—
—
0
0
6
41
1.48
0.36
3.5
1.2
—
—
—
0
0
7
100
0.69
0.31
1.4
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
103.61
—
0
10
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
2.7
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
14
118
1.20
0.20
2.4
4.4
0.38
0.88
%
—
8
47
11
91
1.22
0.18
2.5
1.5
—
—
—
0
0
12
101
1.20
0.17
2.5
4.4
0.43
0.51
%
—
7
35
23
207
1.13
0.16
1.2
1.4
9.45
35.45
iu/ml
—
6
73
21
193
1.10
0.10
1.2
1.4
38.42
14.33
u/ml
—
5
84
5
44
1.14
0.10
1.6
1.6
—
—
—
0
0
12
107
1.13
0.08
1.1
1.2
—
—
—
0
0
6
70
0.85
0.08
1.0
1.2
—
—
—
0
0
124
1226
1.04
0.05
6.3
4.2
6.41
5.89
mmol/l
2.22
111
1109
150
1490
1.05
0.03
50.9
19.3
38.46
39.89
%
2.57
142
1407
118
1169
1.03
0.03
38.8
15.7
15.09
14.96
%
0.11
118
1148
11
102
1.08
0.03
2.3
4.7
0.00
0.32
%
—
5
31
12
127
0.94
0.01
2.4
1.8
—
—
—
0
0
114
1148
0.98
0.01
41.3
16.9
329.89
332.64
g/l
2.76
114
1141
15
157
0.95
0.01
1.3
2.5
78.30
122.25
ug/g
—
10
123
11
109
1.01
0.00
2.5
4.6
0.00
0.13
%
—
5
38
35
347
1.01
0.00
7.3
3.5
—
—
—
0
0
50
503
0.99
0.00
2.5
2.0
—
—
—
0
0
47
472
0.99
0.00
4.6
4.9
1.83
2.93
ug/l
0.62
35
419
0
8
0.00
0.00
0.0
4.4
—
59.75
—
0
8
0
8
0.00
0.00
0.0
1.3
—
6.11
—
0
8
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
7.2
—
0.64
—
0
6
0
7
0.00
-0.00
0.0
1.4
—
66.57
—
0
7
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
173.33
—
0
6
0
7
0.00
-0.00
0.0
1.3
—
0.78
—
0
7
0
5
0.00
-0.00
0.0
1.8
—
1.71
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
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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