Other disorders of carbohydrate metabolism

E4_CARBO

Endpoint definition

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

-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 (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
10
6
17.57
6.83
4.3
4.5
1.7
1.3
umol/l
—
10
6
84
501
2.32
6.81
7.7
4.4
36.1
35.9
g/l
0.11
78
473
57
288
2.46
6.71
2.1
2.2
2.9
3.1
mg/l
0.25
50
251
88
539
2.30
6.66
9.2
6.1
1.2
1.2
mmol/l
0.70
78
500
23
75
3.39
6.03
7.6
3.7
92.8
77.1
ng/l
0.34
23
65
41
188
2.55
5.86
2.2
1.7
1279.1
1158.2
nmol/l
0.38
30
145
61
337
2.26
5.74
4.2
2.9
7.5
8.5
mmol/l
0.82
55
287
59
330
2.20
5.33
7.4
3.1
7.4
7.4
ph
0.53
12
64
37
170
2.50
5.23
2.3
2.9
40.1
83.1
ug/g
2.97
26
132
66
396
2.08
4.91
4.3
2.9
2.4
2.4
mmol/l
0.13
58
355
54
301
2.16
4.86
3.8
3.0
2563.0
447.6
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
162.9
123.1
ug/l
0.59
76
505
7
6
12.08
4.31
2.1
4.7
36.4
26.8
umol/l
—
7
6
59
356
2.00
4.22
2.8
2.3
56.6
55.6
u/l
0.11
51
329
104
761
1.93
4.18
11.8
9.4
3.5
4.0
e9/l
1.39
97
666
123
953
2.02
4.17
11.0
6.8
85.2
82.4
u/l
0.24
117
892
8
10
8.32
4.10
5.4
1.7
13.9
12.7
umol/l
—
8
10
69
444
1.93
4.08
2.4
1.8
97.8
97.8
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
30.2
50.2
ng/l
0.82
48
273
89
629
1.86
3.89
10.1
6.9
8.9
8.5
%
0.59
82
594
67
433
1.90
3.87
7.9
7.9
1.0
1.2
inr
3.17
24
114
90
640
1.85
3.84
9.5
6.4
54.0
55.6
%
0.57
84
604
94
681
1.84
3.75
9.5
6.4
1.8
1.9
e9/l
0.64
86
608
88
627
1.83
3.69
10.0
6.6
3.1
2.9
%
0.44
81
587
91
660
1.80
3.55
9.6
6.4
0.6
0.6
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
0.0
0.0
e9/l
0.93
81
579
89
646
1.78
3.43
10.2
6.7
30.3
29.4
%
0.32
82
605
85
609
1.78
3.42
10.3
6.7
0.7
0.7
%
0.08
78
568
11
32
3.60
3.39
2.7
5.0
24.4
23.7
mmol/l
0.32
11
27
84
602
1.77
3.36
15.6
9.4
0.0
0.0
e9/l
0.50
71
481
50
310
1.86
3.20
5.2
3.7
21.8
5.8
mg/mmol
1.01
34
193
21
93
2.43
3.18
8.2
6.4
2.1
1.3
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
7.4
7.4
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
0.2
0.2
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
5.9
5.8
kpa
0.14
25
118
22
103
2.30
2.96
7.7
5.8
4.9
5.2
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
880.0
503.4
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
241.4
261.0
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
0.0
0.1
%
—
5
30
51
336
1.74
2.62
7.6
7.0
—
—
—
0
0
21
103
2.18
2.54
3.1
3.3
9.8
9.9
g/l
0.05
21
95
80
599
1.63
2.52
3.3
3.1
0.0
0.0
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
0.2
0.8
%
—
5
34
47
308
1.72
2.45
5.6
4.7
—
—
—
0
0
7
17
4.24
2.38
4.6
2.9
16.2
16.0
%
—
7
7
82
627
1.59
2.31
10.8
6.0
13.0
11.8
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
12.9
11.2
mm/h
0.57
105
880
46
308
1.67
2.20
1.7
1.4
3.0
1.5
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
0.0
0.0
estimate
0.00
18
107
79
607
1.56
2.14
3.4
3.2
0.0
0.0
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
0.0
0.0
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
226.8
193.5
mg/l
—
5
12
17
88
2.03
1.82
11.8
3.6
60.7
66.7
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
56.2
301.0
mg/l
—
7
19
7
24
3.00
1.74
1.0
2.4
34.5
24.7
mg/l
—
7
19
10
42
2.47
1.71
9.6
1.7
1.3
1.6
g/l
—
10
37
112
957
1.49
1.68
4.4
3.7
15.1
14.7
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
1.8
1.9
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
2.0
2.4
g/l
0.81
25
165
51
380
1.49
1.51
3.2
3.0
44.0
204.1
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
1.3
1.3
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
45.5
70.7
%
—
6
22
6
22
2.79
1.44
3.7
6.7
—
—
—
0
0
57
442
1.43
1.36
3.7
3.4
10.1
55.1
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
1.2
1.3
%
0.20
11
54
33
229
1.55
1.35
1.5
1.2
11.1
32.8
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
1.2
1.5
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
1.6
1.6
mmol/l
—
5
19
145
1341
1.52
1.18
24.2
13.3
4.0
4.0
mmol/l
0.11
140
1305
45
343
1.42
1.17
3.1
2.9
0.2
0.3
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
26.0
23.1
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
0.9
2.5
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
2.7
4.1
e9/l
—
5
23
139
1290
1.40
0.96
5.1
4.3
2.7
2.8
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
9.2
362.9
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
1.5
1.4
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
187.8
134.6
ng/l
0.21
12
66
35
273
1.35
0.80
3.0
1.9
1.6
0.9
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
46.0
56.2
%
—
5
24
136
1274
1.32
0.75
4.7
3.9
4.7
4.7
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
11.5
8.4
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
6.1
5.9
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
29.7
29.1
s
0.20
22
160
14
96
1.50
0.64
16.1
8.1
23.8
25.4
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
1.6
1.1
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
40.2
39.3
mmol/mol
0.43
115
1085
6
36
1.69
0.57
2.8
3.3
5.2
101.0
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
22.1
24.4
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
0.4
1.4
mmol/l
—
10
86
156
1515
1.32
0.43
30.0
17.7
6.4
6.6
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
39.0
40.4
%
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
1.7
2.6
ug/l
0.63
44
397
8
66
1.22
0.27
2.1
3.4
4.3
4.6
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
12.1
12.3
kpa
0.06
14
110
14
115
1.24
0.24
4.4
10.2
4.8
5.2
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
—
1569.4
—
0
12
0
12
0.00
0.21
0.0
16.7
—
886.1
—
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
3.5
4.2
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
91.6
136.7
iu/ml
—
5
35
5
47
1.07
0.09
2.8
1.8
2.9
8.0
u/l
—
5
38
5
60
0.83
0.08
10.0
7.3
96.1
93.5
%
—
5
60
7
65
1.08
0.08
1.1
1.0
—
—
—
0
0
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
—
42.9
—
0
7
5
57
0.87
0.00
1.0
1.3
—
—
—
0
0
27
270
1.00
0.00
1.7
2.8
0.5
0.7
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
—
174.2
—
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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