Other disorders of carbohydrate metabolism

E4_CARBO

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

None

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

0

4. Check minimum number of events

None

0

5. Include endpoints

174

6. Filter based on genotype QC (FinnGen only)

169

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2

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 1407 651 742
Only index persons 1083 514 569
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 27.79 35.37 20.72
Only index persons 26.10 32.40 20.41

-FinnGen-

Key figures

All Female Male
Number of individuals 169 80 89
Unadjusted period prevalence (%) 0.03 0.03 0.04
Median age at first event (years) 25.01 29.17 21.27

-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
174
Matched controls
1740
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
27188
ICD-8 Finland
Congenital disorders of carbohydrate metabolism, Alii definiti
+∞
83.1
73
*
E74.0
ICD-10 Finland
Glycogen storage disease
+∞
18.0
17
*
27199
ICD-8 Finland
Congenital disorders of carbohydrate metabolism, Unspecified
+∞
13.7
13
*
E74.1
ICD-10 Finland
Disorders of fructose metabolism
+∞
11.6
11
*
E74.89
ICD-10 Finland
Other specified disorders of carbohydrate metabolism
+∞
9.5
9
*
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.3
8.8
24
62
2712A
ICD-9 Finland
Disorders of carbohydrate transport and metabolism, Hereditary fructose intolerance
+∞
8.4
8
*
1310
FHL
Esophagogastroscopy
+∞
7.3
7
*
503
Kela drug reimbursment
Inborn metabolic disorders
+∞
7.3
7
*
2714A
ICD-9 Finland
Disorders of carbohydrate transport and metabolism, Renal glycosuria
+∞
7.3
7
*
E74.4
ICD-10 Finland
Disorders of pyruvate metabolism and gluconeogenesis
+∞
7.3
7
*
K21.0
ICD-10 Finland
Gastro-oesophageal reflux disease with oesophagitis
3.7
7.3
25
76
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
3.4
7.2
28
93
UJF32
NOMESCO Finland
Coloscopy
2.5
6.5
51
248
Y0599
ICD-8 Finland
Investigation of digestive system
9.8
6.4
12
13
A02BC05
ATC
esomeprazole; systemic
2.3
6.3
74
428
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
2.6
6.3
43
195
Z31.5
ICD-10 Finland
Genetic counselling
4.2
6.1
17
44

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
99
584
2.61
8.82
10.7
7.1
1.21
1.21
mmol/l
0.47
83
504
11
6
19.44
7.70
4.0
4.5
1.65
1.32
umol/l
—
11
6
86
506
2.38
7.30
7.7
4.5
36.21
35.89
g/l
0.20
80
477
58
291
2.49
6.95
2.1
2.2
2.92
3.10
mg/l
0.23
51
254
89
543
2.31
6.82
9.6
6.3
1.22
1.21
mmol/l
0.75
81
505
24
77
3.46
6.45
7.4
4.1
91.47
76.51
ng/l
0.34
24
67
62
338
2.30
6.05
4.2
2.9
7.41
8.43
mmol/l
0.88
56
292
41
188
2.54
5.85
2.2
1.7
1279.07
1160.70
nmol/l
0.37
30
146
56
301
2.27
5.59
3.8
3.1
2493.82
591.75
mg/l
0.57
37
205
37
166
2.56
5.50
2.3
2.8
40.09
85.17
ug/g
3.10
26
129
60
334
2.22
5.49
7.9
3.4
7.39
7.40
ph
0.43
13
64
8
6
13.88
5.13
2.0
4.7
34.50
26.83
umol/l
—
8
6
67
399
2.10
5.11
4.4
2.9
2.35
2.36
mmol/l
0.14
59
362
83
552
1.96
4.54
4.1
2.7
161.09
123.04
ug/l
0.56
77
510
91
633
1.92
4.28
10.3
6.9
8.88
8.45
%
0.63
84
596
68
430
1.95
4.25
3.9
3.1
29.70
49.88
ng/l
0.84
49
275
92
645
1.90
4.20
9.4
6.4
54.07
55.60
%
0.55
86
609
105
769
1.92
4.19
12.4
9.3
3.53
3.94
e9/l
1.42
98
674
60
365
1.98
4.18
2.8
2.3
55.81
69.32
u/l
0.53
53
339
8
10
8.32
4.10
5.4
1.7
13.89
12.74
umol/l
—
8
10
124
964
2.00
4.10
11.3
6.9
85.07
81.84
u/l
0.28
118
903
90
631
1.88
4.07
10.1
6.6
3.16
2.94
%
0.42
83
590
69
444
1.92
4.06
2.4
1.8
97.82
98.30
pmol/l
0.03
43
228
77
514
1.89
4.05
12.7
11.7
1.05
1.24
inr
3.56
26
137
86
600
1.86
3.90
15.6
9.3
0.00
0.00
e9/l
0.50
73
481
22
90
2.65
3.90
1.5
1.4
—
—
—
0
0
87
610
1.85
3.88
10.5
6.7
0.68
0.66
%
0.11
80
567
95
687
1.84
3.82
9.7
6.5
1.82
1.93
e9/l
0.71
88
620
52
310
1.97
3.80
5.0
3.6
21.20
6.39
mg/mmol
0.95
35
192
10
20
5.24
3.75
3.7
5.4
—
—
—
0
0
91
652
1.83
3.74
10.4
6.7
30.01
29.21
%
0.27
85
616
33
168
2.19
3.65
1.7
2.3
—
—
—
0
0
92
665
1.81
3.65
9.8
6.5
0.58
0.58
e9/l
0.07
84
583
92
669
1.80
3.54
9.8
6.4
0.03
0.04
e9/l
1.00
83
585
21
89
2.55
3.48
5.6
5.6
0.13
0.13
%
—
8
31
27
129
2.29
3.46
8.3
4.8
—
—
—
0
0
27
129
2.29
3.46
8.3
4.6
5.82
5.83
kpa
0.02
27
124
23
103
2.42
3.40
7.5
5.8
7.44
7.39
ph
—
6
7
54
337
1.87
3.40
3.5
2.8
—
—
—
0
0
20
84
2.56
3.37
4.7
5.6
0.57
0.50
%
—
7
28
87
634
1.74
3.23
11.5
7.3
—
—
—
0
0
93
692
1.74
3.20
9.9
6.8
0.23
0.19
e9/l
0.59
86
619
33
177
2.07
3.19
1.3
1.4
880.00
536.55
titre
—
5
29
21
93
2.43
3.18
5.6
5.5
0.75
0.83
%
—
8
36
14
51
2.90
3.06
2.3
2.1
—
—
—
0
0
11
31
3.72
3.05
2.7
5.1
24.38
23.61
mmol/l
0.36
11
31
27
137
2.15
3.00
4.9
5.7
103.93
104.30
mmol/l
0.13
27
137
7
13
5.56
2.90
6.7
2.0
—
—
—
0
0
22
105
2.25
2.83
3.1
3.2
9.43
10.61
g/l
0.57
22
97
8
18
4.60
2.83
6.4
4.0
—
—
—
0
0
5
6
8.53
2.76
1.0
1.2
241.40
261.00
mg/l
—
5
6
19
86
2.36
2.75
5.8
5.5
0.17
0.04
%
—
6
27
52
340
1.76
2.75
7.8
6.8
—
—
—
0
0
82
609
1.66
2.70
3.4
3.1
0.00
0.00
estimate
-0.00
19
119
48
312
1.74
2.58
6.9
4.7
—
—
—
0
0
5
7
7.31
2.56
1.6
1.3
—
—
—
0
0
107
859
1.64
2.53
5.2
3.8
—
—
—
0
0
30
171
1.91
2.44
1.3
1.2
—
—
—
0
0
108
875
1.62
2.41
3.4
3.5
—
—
—
0
0
81
614
1.60
2.38
3.5
3.1
0.00
0.00
estimate
-0.00
19
113
117
969
1.63
2.36
5.1
4.0
12.86
11.21
mm/h
0.57
107
893
80
607
1.59
2.33
4.6
4.2
0.00
0.00
estimate
-0.00
20
111
7
18
4.01
2.27
4.6
2.8
16.21
15.99
%
—
7
7
83
640
1.57
2.23
11.2
6.0
12.85
11.65
umol/l
0.33
76
607
47
316
1.67
2.21
3.9
3.6
0.00
0.00
estimate
-0.00
19
110
18
89
2.14
2.15
11.3
3.6
59.82
67.05
e9/l
0.32
13
70
46
314
1.63
2.03
1.7
1.4
2.96
1.53
u/ml
0.38
14
76
5
11
4.64
1.95
1.6
1.5
—
—
—
0
0
49
343
1.60
1.95
3.4
2.8
—
—
—
0
0
14
66
2.22
1.87
1.4
2.4
—
—
—
0
0
6
17
3.62
1.85
4.5
2.9
—
—
—
0
0
5
12
4.26
1.83
1.0
1.2
226.80
193.50
mg/l
—
5
12
7
23
3.13
1.82
1.0
3.5
—
—
—
0
0
53
384
1.55
1.81
3.6
2.9
43.00
200.88
e6/l
0.46
47
298
13
61
2.22
1.76
1.2
1.2
—
—
—
0
0
138
1227
1.60
1.73
4.3
3.6
1.31
1.32
mmol/l
0.04
129
1122
5
13
3.93
1.72
7.2
1.6
—
—
—
0
0
59
444
1.50
1.68
4.1
3.3
50.12
54.30
e6/l
0.04
51
314
6
19
3.23
1.67
3.3
2.6
1.62
1.56
mmol/l
—
6
19
7
25
2.87
1.67
1.0
1.7
—
—
—
0
0
42
296
1.55
1.61
1.3
1.5
1.95
2.42
g/l
0.89
26
169
6
20
3.07
1.59
1.5
1.1
—
—
—
0
0
22
131
1.78
1.58
1.9
1.7
—
—
—
0
0
35
237
1.60
1.58
1.9
1.9
—
—
—
0
0
19
108
1.85
1.58
12.3
6.8
—
—
—
0
0
64
495
1.46
1.58
2.8
2.8
5.90
5.92
ph
—
5
54
133
1186
1.52
1.52
4.9
4.2
1.78
1.91
mu/l
0.78
121
1084
16
87
1.92
1.51
1.7
1.9
1.15
1.46
g/l
0.41
16
81
47
346
1.49
1.47
3.5
2.8
0.22
0.32
e6/l
0.45
41
259
7
28
2.56
1.47
1.0
3.1
34.50
36.03
mg/l
—
7
23
7
28
2.56
1.47
1.0
3.1
56.20
251.95
mg/l
—
7
23
9
39
2.38
1.45
1.0
1.2
—
—
—
0
0
6
22
2.79
1.44
3.7
6.7
—
—
—
0
0
6
22
2.79
1.44
3.5
4.7
45.50
70.70
%
—
6
22
6
22
2.79
1.44
7.0
4.7
2.81
4.08
e9/l
—
6
22
112
973
1.42
1.41
4.4
3.6
15.06
14.67
pmol/l
0.86
105
883
6
23
2.66
1.38
9.0
5.7
48.17
55.70
%
—
6
23
33
228
1.55
1.38
1.5
1.3
20.99
33.01
iu/ml
—
9
78
5
17
3.00
1.37
5.0
3.0
—
—
—
0
0
5
17
3.00
1.37
1.4
1.2
—
—
—
0
0
5
17
3.00
1.37
1.0
1.1
—
—
—
0
0
5
18
2.83
1.29
2.2
1.8
0.35
0.33
nmol/l
—
5
13
9
44
2.10
1.29
2.0
1.7
—
—
—
0
0
20
124
1.69
1.27
1.5
1.7
—
—
—
0
0
147
1355
1.55
1.27
24.6
13.5
3.97
3.96
mmol/l
0.15
142
1317
11
56
2.03
1.25
3.8
3.6
1.16
1.33
%
0.18
11
56
15
86
1.81
1.23
9.3
5.7
—
—
—
0
0
8
37
2.22
1.23
1.3
1.2
—
—
—
0
0
5
19
2.68
1.22
3.6
2.6
7.78
6.75
mmol/l
—
5
19
146
1347
1.52
1.22
21.9
12.4
26.45
23.13
mg/l
0.44
118
1036
22
142
1.63
1.21
1.7
1.3
—
—
—
0
0
20
127
1.65
1.17
1.1
1.1
—
—
—
0
0
141
1297
1.46
1.14
5.2
4.3
2.69
2.80
mmol/l
0.66
133
1199
13
73
1.84
1.14
1.5
1.5
—
—
—
0
0
16
97
1.72
1.11
4.6
4.0
—
—
—
0
0
50
392
1.39
1.10
5.5
2.2
—
—
—
0
0
30
215
1.48
1.07
1.3
1.2
0.88
2.50
u/ml
—
8
81
138
1274
1.40
1.01
4.8
3.9
1.48
1.44
mmol/l
0.34
130
1177
24
167
1.51
0.98
1.8
1.8
—
—
—
0
0
152
1431
1.49
0.96
20.4
10.9
—
—
—
0
0
10
55
1.87
0.94
3.5
3.6
0.55
0.65
%
—
10
55
138
1279
1.38
0.94
4.8
3.9
4.65
4.69
mmol/l
0.15
130
1195
6
28
2.18
0.92
1.0
1.4
—
—
—
0
0
24
171
1.47
0.89
4.6
2.3
29.69
29.02
s
0.24
24
166
36
277
1.38
0.89
3.0
1.9
1.56
0.92
mg/l
0.29
28
211
28
208
1.41
0.84
2.6
3.1
9.15
363.43
ng/l
1.58
20
154
21
149
1.47
0.80
1.2
1.2
—
—
—
0
0
22
158
1.45
0.79
4.4
4.1
11.00
8.28
umol/l
0.28
17
135
0
26
0.00
0.79
0.0
1.3
—
—
—
0
0
134
1248
1.32
0.79
5.0
4.0
6.09
5.86
mmol/l
0.98
122
1143
5
24
2.11
0.75
1.0
2.4
—
—
—
0
0
23
169
1.42
0.74
1.1
1.6
—
—
—
0
0
12
76
1.62
0.74
2.2
3.6
187.83
132.51
ng/l
0.22
12
68
5
25
2.03
0.73
1.2
1.8
—
—
—
0
0
126
1171
1.28
0.71
7.3
4.8
40.24
39.25
mmol/mol
0.50
117
1094
5
28
1.81
0.66
3.8
2.9
—
—
—
0
0
14
95
1.52
0.66
4.0
3.4
—
—
—
0
0
55
470
1.25
0.64
2.1
2.0
—
—
—
0
0
8
49
1.66
0.63
1.4
1.5
—
—
—
0
0
5
30
1.69
0.62
3.0
19.6
1.57
1.12
mmol/l
—
5
24
20
149
1.39
0.61
1.8
1.5
—
—
—
0
0
40
333
1.26
0.58
4.2
3.3
—
—
—
0
0
14
99
1.45
0.56
16.1
7.9
23.79
25.39
mmol/l
1.29
14
99
39
327
1.25
0.54
3.5
2.6
—
—
—
0
0
6
39
1.56
0.53
2.8
3.4
5.17
95.91
u/ml
—
6
32
19
144
1.36
0.53
1.4
1.4
—
—
—
0
0
34
282
1.26
0.51
2.8
3.1
—
—
—
0
0
9
65
1.41
0.51
2.9
13.4
22.08
24.65
mmol/l
—
9
60
158
1530
1.36
0.50
30.7
17.7
39.20
40.58
%
1.90
148
1450
158
1531
1.35
0.48
30.5
17.7
6.36
6.60
e9/l
0.97
153
1483
14
103
1.39
0.47
7.7
4.0
—
—
—
0
0
7
51
1.39
0.44
1.0
1.1
—
—
—
0
0
8
56
1.45
0.43
1.4
1.4
—
—
—
0
0
15
116
1.32
0.38
4.6
10.2
0.35
1.47
mmol/l
—
10
92
6
45
1.34
0.34
3.2
1.9
2.81
8.10
u/l
—
6
37
13
101
1.31
0.33
1.8
2.5
3.96
5.27
e9/l
—
8
87
41
364
1.17
0.32
1.4
1.4
—
—
—
0
0
50
454
1.14
0.30
3.3
4.2
1.64
2.54
ug/l
0.65
45
404
9
73
1.25
0.26
1.4
1.2
—
—
—
0
0
9
74
1.23
0.25
2.1
9.4
—
—
—
0
0
0
11
0.00
0.21
0.0
26.6
—
1121.18
—
0
11
0
11
0.00
0.21
0.0
18.1
—
716.64
—
0
11
0
10
0.00
0.21
0.0
1.6
—
1.54
—
0
10
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
5
43
1.17
0.21
1.2
2.7
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.9
—
—
—
0
0
0
13
0.00
0.21
0.0
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
6
49
1.23
0.20
8.3
18.0
—
—
—
0
0
14
118
1.20
0.20
4.4
10.1
12.14
12.20
kpa
0.02
14
113
14
118
1.20
0.20
4.4
10.1
4.82
5.21
kpa
1.04
14
112
6
53
1.14
0.19
8.2
7.9
24.05
24.89
mmol/l
—
6
53
6
53
1.14
0.19
2.3
2.5
—
—
—
0
0
8
68
1.18
0.17
2.1
3.4
4.26
4.57
pmol/l
—
8
59
19
168
1.15
0.16
1.4
1.6
—
—
—
0
0
13
111
1.18
0.16
1.5
1.5
—
—
—
0
0
22
198
1.13
0.15
2.9
2.6
1.58
1.78
e6/l
0.09
12
105
54
512
1.08
0.14
3.1
2.5
—
—
—
0
0
5
61
0.81
0.08
10.0
7.3
96.12
93.52
%
—
5
61
7
66
1.06
0.08
1.1
1.1
—
—
—
0
0
10
89
1.13
0.07
1.2
1.2
91.62
147.75
iu/ml
—
5
36
12
116
1.04
0.00
1.7
1.6
—
—
—
0
0
15
151
0.99
0.00
1.2
1.4
—
—
—
0
0
27
274
0.98
0.00
1.7
2.8
0.52
0.69
ug/l
1.08
15
167
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
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
174.17
—
0
6
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
6.2
—
6.96
—
0
5
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
5
56
0.89
-0.00
1.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
3.4
—
43.57
—
0
7
8
86
0.93
-0.00
5.4
2.5
—
—
—
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
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.8
—
—
—
0
0
5
57
0.87
-0.00
1.0
1.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
57
0.87
-0.00
1.0
1.3
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint E4_CARBO and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_CARBO.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: E4_CARBO – Other disorders of carbohydrate 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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