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

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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

172

6. Filter based on genotype QC (FinnGen only)

172

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 172 81 91
Unadjusted period prevalence (%) 0.03 0.03 0.04
Median age at first event (years) 24.99 29.17 21.27

-FinRegistry-

Age distribution of first events

01020304050607080020406080100120140160180200220240260280AgeIndividuals

-FinnGen-

Age distribution of first events

0102030405060700510152025303540AgeIndividuals

-FinRegistry-

Year distribution of first events

19751980198519901995200020052010201520202022050100150200250300YearIndividuals

-FinnGen-

Year distribution of first events

19751980198519901995200020052010201520202023051015202530354045YearIndividuals

-FinRegistry-

Cumulative Incidence Function

01020304050607080901000.00.10.20.30.40.50.60.70.80.91.0AgeProbability of first incidence (%)

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS (R11)

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
162
Matched controls
1621
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
27188
ICD-8 Finland
Congenital disorders of carbohydrate metabolism, Alii definiti
+∞
78.7
69
*
E74.0
ICD-10 Finland
Glycogen storage disease
+∞
17.0
16
*
27199
ICD-8 Finland
Congenital disorders of carbohydrate metabolism, Unspecified
+∞
12.7
12
*
E74.1
ICD-10 Finland
Disorders of fructose metabolism
+∞
11.6
11
*
2714A
ICD-9 Finland
Disorders of carbohydrate transport and metabolism, Renal glycosuria
+∞
7.3
7
*
2712A
ICD-9 Finland
Disorders of carbohydrate transport and metabolism, Hereditary fructose intolerance
+∞
7.3
7
*
E74.89
ICD-10 Finland
Other specified disorders of carbohydrate metabolism
+∞
7.3
7
*
Y0599
ICD-8 Finland
Investigation of digestive system
11.7
6.4
11
10
E74.4
ICD-10 Finland
Disorders of pyruvate metabolism and gluconeogenesis
+∞
6.3
6
*
503
Kela drug reimbursment
Inborn metabolic disorders
+∞
6.3
6
*

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
97
578
2.56
8.35
10.4
6.9
1.21
1.21
mmol/l
0.36
79
497
10
6
17.57
6.83
4.3
4.5
1.67
1.32
umol/l
—
10
6
84
501
2.32
6.81
7.7
4.4
36.13
35.93
g/l
0.11
78
473
57
288
2.46
6.71
2.1
2.2
2.90
3.11
mg/l
0.25
50
251
88
539
2.30
6.66
9.2
6.1
1.23
1.22
mmol/l
0.70
78
500
23
75
3.39
6.03
7.6
3.7
92.79
77.14
ng/l
0.34
23
65
41
188
2.55
5.86
2.2
1.7
1279.07
1158.24
nmol/l
0.38
30
145
61
337
2.26
5.74
4.2
2.9
7.50
8.48
mmol/l
0.82
55
287
59
330
2.20
5.33
7.4
3.1
7.39
7.40
ph
0.53
12
64
37
170
2.50
5.23
2.3
2.9
40.09
83.06
ug/g
2.97
26
132
66
396
2.08
4.91
4.3
2.9
2.35
2.36
mmol/l
0.13
58
355
54
301
2.16
4.86
3.8
3.0
2563.01
447.64
mg/l
0.63
36
204
10
20
5.25
4.84
3.7
5.5
—
—
—
0
0
82
548
1.95
4.40
4.1
2.7
162.93
123.12
ug/l
0.59
76
505
7
6
12.08
4.31
2.1
4.7
36.43
26.83
umol/l
—
7
6
59
356
2.00
4.22
2.8
2.3
56.63
55.63
u/l
0.11
51
329
104
761
1.93
4.18
11.8
9.4
3.54
3.96
e9/l
1.39
97
666
123
953
2.02
4.17
11.0
6.8
85.23
82.38
u/l
0.24
117
892
8
10
8.32
4.10
5.4
1.7
13.89
12.74
umol/l
—
8
10
69
444
1.93
4.08
2.4
1.8
97.82
97.85
pmol/l
0.00
43
227
70
453
1.92
4.06
10.6
6.5
—
—
—
0
0
67
428
1.93
4.04
4.0
3.1
30.21
50.18
ng/l
0.82
48
273
89
629
1.86
3.89
10.1
6.9
8.89
8.47
%
0.59
82
594
67
433
1.90
3.87
7.9
7.9
1.05
1.23
inr
3.17
24
114
90
640
1.85
3.84
9.5
6.4
53.98
55.60
%
0.57
84
604
94
681
1.84
3.75
9.5
6.4
1.84
1.95
e9/l
0.64
86
608
88
627
1.83
3.69
10.0
6.6
3.15
2.92
%
0.44
81
587
91
660
1.80
3.55
9.6
6.4
0.58
0.58
e9/l
0.01
83
577
21
89
2.55
3.48
1.5
1.4
—
—
—
0
0
91
664
1.79
3.45
9.6
6.4
0.04
0.04
e9/l
0.93
81
579
89
646
1.78
3.43
10.2
6.7
30.33
29.39
%
0.32
82
605
85
609
1.78
3.42
10.3
6.7
0.68
0.66
%
0.08
78
568
11
32
3.60
3.39
2.7
5.0
24.38
23.66
mmol/l
0.32
11
27
84
602
1.77
3.36
15.6
9.4
0.00
0.00
e9/l
0.50
71
481
50
310
1.86
3.20
5.2
3.7
21.79
5.84
mg/mmol
1.01
34
193
21
93
2.43
3.18
8.2
6.4
2.12
1.32
mmol/l
1.14
21
87
14
50
2.96
3.17
2.3
2.1
—
—
—
0
0
22
100
2.38
3.15
7.7
6.0
7.44
7.39
ph
—
6
7
52
329
1.83
3.11
3.4
2.9
—
—
—
0
0
92
687
1.73
3.11
9.7
6.9
0.23
0.19
e9/l
0.61
85
612
25
123
2.21
3.00
8.7
4.7
—
—
—
0
0
25
123
2.21
3.00
8.8
4.5
5.89
5.82
kpa
0.14
25
118
22
103
2.30
2.96
7.7
5.8
4.86
5.18
kpa
1.12
22
95
31
169
2.02
2.87
1.7
2.3
—
—
—
0
0
32
177
1.99
2.85
1.3
1.4
880.00
503.45
titre
—
5
29
8
18
4.61
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
5
6
8.53
2.76
1.6
1.3
—
—
—
0
0
20
93
2.30
2.73
5.2
5.7
0.00
0.13
%
—
5
30
51
336
1.74
2.62
7.6
7.0
—
—
—
0
0
21
103
2.18
2.54
3.1
3.3
9.80
9.91
g/l
0.05
21
95
80
599
1.63
2.52
3.3
3.1
0.00
0.00
estimate
0.00
17
110
105
841
1.64
2.51
5.0
3.8
—
—
—
0
0
20
97
2.20
2.49
5.2
5.6
0.20
0.79
%
—
5
34
47
308
1.72
2.45
5.6
4.7
—
—
—
0
0
7
17
4.24
2.38
4.6
2.9
16.21
15.99
%
—
7
7
82
627
1.59
2.31
10.8
6.0
12.96
11.82
umol/l
0.30
75
595
6
13
4.74
2.29
7.7
2.0
—
—
—
0
0
115
955
1.62
2.26
5.0
4.0
12.94
11.25
mm/h
0.57
105
880
46
308
1.67
2.20
1.7
1.4
2.96
1.54
u/ml
0.37
14
75
107
877
1.58
2.20
3.4
3.5
—
—
—
0
0
7
19
3.79
2.17
1.0
2.6
—
—
—
0
0
46
309
1.67
2.17
3.8
3.6
0.00
0.00
estimate
0.00
18
107
79
607
1.56
2.14
3.4
3.2
0.00
0.00
estimate
0.00
18
111
29
171
1.84
2.14
1.3
1.2
—
—
—
0
0
78
599
1.55
2.11
4.4
4.3
0.00
0.00
estimate
0.00
19
108
5
11
4.65
1.95
1.0
1.2
—
—
—
0
0
6
16
3.84
1.95
4.5
2.9
—
—
—
0
0
5
12
4.26
1.83
1.0
1.2
226.80
193.50
mg/l
—
5
12
17
88
2.03
1.82
11.8
3.6
60.72
66.67
e9/l
0.23
12
69
7
23
3.13
1.82
1.0
1.7
—
—
—
0
0
7
24
3.00
1.74
1.0
2.4
56.20
301.02
mg/l
—
7
19
7
24
3.00
1.74
1.0
2.4
34.50
24.69
mg/l
—
7
19
10
42
2.47
1.71
9.6
1.7
1.31
1.57
g/l
—
10
37
112
957
1.49
1.68
4.4
3.7
15.06
14.67
pmol/l
0.86
105
870
6
19
3.23
1.67
1.5
1.1
—
—
—
0
0
13
63
2.15
1.64
1.5
2.0
—
—
—
0
0
132
1170
1.55
1.63
4.9
4.3
1.78
1.92
mu/l
0.89
120
1070
47
339
1.53
1.63
3.0
2.9
—
—
—
0
0
34
229
1.60
1.57
1.8
1.9
—
—
—
0
0
41
289
1.55
1.57
1.3
1.5
2.00
2.45
g/l
0.81
25
165
51
380
1.49
1.51
3.2
3.0
44.00
204.10
e6/l
0.46
45
294
9
37
2.51
1.50
1.0
1.2
—
—
—
0
0
21
126
1.76
1.48
1.9
1.6
—
—
—
0
0
136
1223
1.54
1.47
4.2
3.6
1.32
1.32
mmol/l
0.01
127
1119
18
103
1.83
1.47
12.7
6.8
—
—
—
0
0
5
16
3.19
1.45
1.0
1.1
—
—
—
0
0
6
22
2.79
1.44
3.5
4.7
45.50
70.70
%
—
6
22
6
22
2.79
1.44
3.7
6.7
—
—
—
0
0
57
442
1.43
1.36
3.7
3.4
10.08
55.11
e6/l
2.48
49
310
12
61
2.04
1.36
1.1
1.2
—
—
—
0
0
11
54
2.11
1.36
3.8
3.7
1.16
1.34
%
0.20
11
54
33
229
1.55
1.35
1.5
1.2
11.10
32.76
iu/ml
—
9
80
20
122
1.72
1.34
1.5
1.7
—
—
—
0
0
22
139
1.67
1.31
1.7
1.3
—
—
—
0
0
8
34
2.42
1.31
1.3
1.2
—
—
—
0
0
5
18
2.83
1.29
1.4
1.2
—
—
—
0
0
15
85
1.84
1.27
1.7
1.9
1.15
1.45
g/l
0.39
15
79
20
124
1.69
1.27
1.1
1.1
—
—
—
0
0
5
19
2.68
1.22
3.8
2.6
1.56
1.59
mmol/l
—
5
19
145
1341
1.52
1.18
24.2
13.3
3.97
3.96
mmol/l
0.11
140
1305
45
343
1.42
1.17
3.1
2.9
0.23
0.31
e6/l
0.32
40
254
49
380
1.40
1.16
5.4
2.3
—
—
—
0
0
144
1333
1.49
1.13
21.3
12.3
25.95
23.08
mg/l
0.37
116
1021
8
41
2.00
1.10
1.5
1.7
—
—
—
0
0
14
83
1.75
1.05
9.6
5.9
—
—
—
0
0
30
217
1.46
1.02
1.3
1.2
0.87
2.50
u/ml
—
8
81
38
288
1.41
1.02
5.6
5.6
—
—
—
0
0
23
158
1.53
1.00
1.8
1.7
—
—
—
0
0
5
23
2.21
0.98
6.2
4.7
2.68
4.09
e9/l
—
5
23
139
1290
1.40
0.96
5.1
4.3
2.70
2.80
mmol/l
0.55
131
1191
12
70
1.77
0.95
1.5
1.5
—
—
—
0
0
28
204
1.44
0.93
2.6
3.1
9.15
362.87
ng/l
1.51
20
150
150
1414
1.48
0.91
20.0
10.8
—
—
—
0
0
15
95
1.63
0.91
4.2
4.1
—
—
—
0
0
136
1268
1.35
0.82
4.8
3.9
1.48
1.44
mmol/l
0.38
128
1170
8
47
1.74
0.82
1.4
1.7
—
—
—
0
0
12
74
1.67
0.80
2.2
3.6
187.83
134.60
ng/l
0.21
12
66
35
273
1.35
0.80
3.0
1.9
1.56
0.89
mg/l
0.30
28
208
0
25
0.00
0.79
0.0
1.3
—
—
—
0
0
21
150
1.46
0.78
1.2
1.2
—
—
—
0
0
5
24
2.11
0.75
6.4
5.7
46.00
56.17
%
—
5
24
136
1274
1.32
0.75
4.7
3.9
4.66
4.69
mmol/l
0.11
128
1187
14
93
1.55
0.72
4.0
3.5
—
—
—
0
0
5
26
1.95
0.71
1.0
1.3
—
—
—
0
0
5
26
1.95
0.71
1.0
2.3
—
—
—
0
0
21
154
1.41
0.69
3.8
4.1
11.50
8.41
umol/l
0.31
16
133
22
163
1.40
0.68
1.1
1.7
—
—
—
0
0
132
1238
1.28
0.67
5.0
4.0
6.09
5.86
mmol/l
0.91
120
1135
5
28
1.81
0.66
3.8
3.0
—
—
—
0
0
22
165
1.38
0.64
4.8
2.4
29.70
29.07
s
0.20
22
160
14
96
1.50
0.64
16.1
8.1
23.79
25.35
mmol/l
1.24
14
96
55
471
1.25
0.63
2.1
2.0
—
—
—
0
0
5
30
1.69
0.62
3.0
19.6
1.57
1.10
mmol/l
—
5
24
19
140
1.40
0.61
1.4
1.4
—
—
—
0
0
124
1161
1.24
0.60
7.1
4.9
40.16
39.29
mmol/mol
0.43
115
1085
6
36
1.69
0.57
2.8
3.3
5.17
101.00
u/ml
—
6
30
38
316
1.26
0.56
3.5
2.6
—
—
—
0
0
9
65
1.41
0.51
2.9
13.4
22.08
24.38
mmol/l
—
9
59
19
147
1.33
0.47
1.8
1.5
—
—
—
0
0
39
333
1.22
0.46
4.2
3.3
—
—
—
0
0
7
50
1.42
0.45
1.0
1.1
—
—
—
0
0
14
104
1.38
0.44
7.7
3.8
—
—
—
0
0
15
113
1.36
0.44
4.6
10.3
0.35
1.40
mmol/l
—
10
86
156
1515
1.32
0.43
30.0
17.7
6.35
6.60
e9/l
1.01
151
1468
8
57
1.42
0.43
1.4
1.4
—
—
—
0
0
33
281
1.22
0.40
2.8
3.1
—
—
—
0
0
134
1285
1.19
0.39
21.6
12.7
39.01
40.42
%
0.99
101
1013
9
71
1.28
0.37
2.1
9.6
—
—
—
0
0
40
356
1.16
0.31
1.4
1.4
—
—
—
0
0
49
446
1.14
0.28
3.3
4.1
1.65
2.55
ug/l
0.63
44
397
8
66
1.22
0.27
2.1
3.4
4.26
4.56
pmol/l
—
8
57
9
72
1.26
0.26
1.4
1.2
—
—
—
0
0
14
115
1.24
0.24
4.4
10.2
12.14
12.33
kpa
0.06
14
110
14
115
1.24
0.24
4.4
10.2
4.82
5.19
kpa
0.96
14
109
13
106
1.24
0.24
1.5
1.5
—
—
—
0
0
19
163
1.19
0.22
1.4
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
12
0.00
0.21
0.0
24.6
—
1569.42
—
0
12
0
12
0.00
0.21
0.0
16.7
—
886.08
—
0
12
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.8
—
—
—
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
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
6
49
1.23
0.20
8.3
17.9
—
—
—
0
0
12
99
1.23
0.20
1.9
2.3
3.52
4.23
e9/l
—
6
81
5
44
1.14
0.10
1.2
2.7
—
—
—
0
0
10
87
1.16
0.09
1.2
1.2
91.62
136.72
iu/ml
—
5
35
5
47
1.07
0.09
2.8
1.8
2.91
8.00
u/l
—
5
38
5
60
0.83
0.08
10.0
7.3
96.12
93.54
%
—
5
60
7
65
1.08
0.08
1.1
1.0
—
—
—
0
0
21
197
1.08
0.06
2.8
2.7
1.64
1.78
e6/l
0.06
11
105
53
515
1.04
0.06
3.1
2.5
—
—
—
0
0
11
109
1.01
0.00
1.5
1.6
—
—
—
0
0
0
7
0.00
0.00
0.0
3.4
—
42.86
—
0
7
5
57
0.87
0.00
1.0
1.3
—
—
—
0
0
27
270
1.00
0.00
1.7
2.8
0.52
0.68
ug/l
1.06
15
163
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
5
58
0.86
0.00
1.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
174.17
—
0
6
15
150
1.00
0.00
1.2
1.4
—
—
—
0
0
0
9
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
5
52
0.96
0.00
2.4
2.7
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
8
86
0.93
0.00
5.4
2.7
—
—
—
0
0
5
58
0.86
0.00
1.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
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
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
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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