renal glycosuria: An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
125 |
4. Check minimum number of eventsNone |
125 |
5. Include endpointsNone |
125 |
6. Filter based on genotype QC (FinnGen only) |
118 |
Control definitions (FinnGen only)
- Control exclude
- E4_METABOLIA
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
Similar endpoints
↥List of similar endpoints to
Disorder of carbohydrate metabolism, other/unspecified
based on the number of shared cases.
Similar with more cases:
- Other disorders of carbohydrate metabolism
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 944 | 427 | 508 |
| Only index persons | 762 | 350 | 412 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 27.25 | 34.74 | 20.56 |
| Only index persons | 25.83 | 32.23 | 20.38 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 118 | 50 | 68 |
| Unadjusted period prevalence (%) | 0.03 | 0.02 | 0.03 |
| Median age at first event (years) | 23.96 | 28.73 | 20.45 |
-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
No data
-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
- 121
- Matched controls
- 1210
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
27188
ICD-8 Finland
Congenital disorders of carbohydrate metabolism, Alii definiti
+∞
87.4
73
*
27199
ICD-8 Finland
Congenital disorders of carbohydrate metabolism, Unspecified
+∞
13.8
13
*
E74.89
ICD-10 Finland
Other specified disorders of carbohydrate metabolism
+∞
9.5
9
*
2714A
ICD-9 Finland
Disorders of carbohydrate transport and metabolism, Renal glycosuria
+∞
7.4
7
*
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
74
450
2.66
6.35
8.3
8.0
1.21
1.21
mmol/l
0.13
63
392
19
62
3.45
5.05
5.9
4.0
73.54
81.48
ng/l
0.20
19
51
27
129
2.41
3.58
2.0
1.7
1360.75
1260.60
nmol/l
0.20
20
98
63
422
2.03
3.58
2.9
2.9
125.52
127.13
ug/l
0.03
58
392
13
37
3.81
3.53
4.7
8.3
9.54
8.96
kpa
0.55
13
37
11
29
4.07
3.28
3.2
1.4
—
—
—
0
0
9
21
4.54
3.06
3.7
4.0
24.57
25.61
mmol/l
—
9
21
91
723
2.04
2.90
10.6
7.8
78.99
81.12
u/l
0.20
86
684
7
14
5.23
2.77
1.3
1.3
—
—
—
0
0
36
215
1.96
2.70
2.1
2.5
2.57
3.23
mg/l
1.04
31
189
39
240
1.92
2.68
1.9
1.4
3.22
2.22
u/ml
0.20
13
60
44
288
1.83
2.48
2.9
2.5
60.16
71.59
u/l
0.33
37
266
43
283
1.81
2.36
3.9
2.5
0.00
0.01
estimate
0.49
14
79
9
29
3.27
2.28
1.0
1.1
—
—
—
0
0
6
15
4.15
2.06
1.8
2.0
—
—
—
0
0
5
140
0.33
2.05
1.4
2.3
3.68
3.60
ratio
—
5
115
86
712
1.72
1.93
5.3
4.3
8.96
10.43
mm/h
0.68
79
667
8
29
2.88
1.82
1.0
1.1
—
—
—
0
0
38
258
1.69
1.82
3.1
3.0
5899.68
941.06
ng/l
0.44
33
203
39
268
1.67
1.78
4.0
3.5
0.00
0.00
estimate
-0.00
16
90
5
13
3.96
1.73
6.4
1.8
7.86
5.89
pmol/l
—
5
13
47
343
1.61
1.68
4.5
3.3
24.16
53.35
ng/l
1.23
39
233
50
373
1.58
1.63
2.4
1.9
101.49
100.03
pmol/l
0.08
33
202
7
26
2.79
1.60
2.0
1.8
—
—
—
0
0
5
15
3.43
1.54
5.4
3.0
17.06
16.42
%
—
5
15
52
397
1.54
1.51
3.7
3.0
0.00
0.00
estimate
-0.00
14
84
64
514
1.52
1.45
8.0
6.4
12.89
11.25
umol/l
0.47
57
489
7
29
2.50
1.41
1.6
1.1
—
—
—
0
0
6
23
2.69
1.38
2.2
1.9
—
—
—
0
0
6
23
2.69
1.38
1.5
1.6
—
—
—
0
0
11
55
2.10
1.32
1.1
1.2
—
—
—
0
0
101
909
1.67
1.28
4.4
4.1
1.30
1.33
mmol/l
0.16
94
830
18
111
1.73
1.20
3.7
6.4
104.83
104.25
mmol/l
0.15
18
111
62
510
1.44
1.17
4.0
3.1
0.00
0.00
estimate
-0.00
16
93
63
520
1.44
1.17
4.0
3.2
0.00
0.00
estimate
-0.00
13
93
97
873
1.56
1.13
5.0
4.8
1.74
1.90
mu/l
0.97
92
805
15
90
1.76
1.10
4.9
3.4
—
—
—
0
0
7
32
2.26
1.10
1.4
1.3
—
—
—
0
0
7
33
2.19
1.07
2.9
3.3
5.14
967.63
u/ml
—
7
27
93
833
1.50
1.07
25.4
16.7
13.62
13.56
%
0.20
93
823
62
516
1.41
1.07
4.0
3.1
0.00
0.00
estimate
-0.00
15
97
5
22
2.33
1.04
1.2
1.2
—
—
—
0
0
6
27
2.28
0.95
1.8
1.9
—
—
—
0
0
8
45
1.83
0.86
2.1
1.5
42.39
27.21
iu/l
—
8
33
5
24
2.13
0.75
1.0
1.4
—
—
—
0
0
5
24
2.13
0.75
2.0
2.1
—
—
—
0
0
11
68
1.68
0.74
7.1
4.2
22.91
23.98
mmol/l
0.97
11
68
5
25
2.04
0.73
2.0
3.6
—
—
—
0
0
102
954
1.44
0.71
5.4
4.7
1.47
1.44
mmol/l
0.29
96
882
103
965
1.45
0.71
5.9
5.3
2.66
2.76
mmol/l
0.51
98
896
49
415
1.30
0.69
3.2
2.7
—
—
estimate
—
0
0
5
28
1.82
0.67
5.0
1.1
14.20
13.00
e6/l
—
5
23
102
957
1.42
0.66
5.3
4.8
4.60
4.68
mmol/l
0.33
96
892
98
914
1.38
0.66
5.3
4.7
6.03
5.84
mmol/l
0.61
89
846
10
151
0.63
0.64
1.7
2.1
—
—
—
0
0
5
29
1.75
0.64
1.0
1.7
—
—
—
0
0
8
50
1.64
0.63
2.6
14.9
22.31
24.71
mmol/l
—
8
45
25
194
1.36
0.62
1.6
1.7
—
—
—
0
0
5
30
1.69
0.62
2.0
2.1
—
—
—
0
0
7
114
0.59
0.61
2.0
1.9
—
—
—
0
0
34
278
1.31
0.61
5.5
3.5
6.39
4.76
mg/mmol
0.12
26
173
10
64
1.61
0.60
2.5
1.6
—
—
—
0
0
0
23
0.00
0.59
0.0
1.5
—
702.64
—
0
17
15
107
1.46
0.59
2.9
7.0
—
—
—
0
0
8
54
1.52
0.58
1.9
1.6
—
—
—
0
0
24
301
0.75
0.58
3.3
3.9
20.14
22.04
%
—
9
142
7
109
0.62
0.51
2.0
2.0
—
—
—
0
0
10
68
1.51
0.48
12.9
10.9
23.90
25.18
mmol/l
—
10
68
27
221
1.29
0.48
2.0
1.8
0.66
0.86
mg/l
0.48
20
175
96
907
1.28
0.47
7.5
5.4
40.34
38.75
mmol/mol
0.82
90
853
7
50
1.42
0.46
2.1
3.7
4.26
4.55
pmol/l
—
7
43
7
102
0.67
0.41
1.7
2.0
—
—
—
0
0
0
15
0.00
0.41
0.0
3.6
—
6.91
—
0
8
103
986
1.30
0.41
21.9
13.8
22.41
23.70
mg/l
0.14
84
798
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
15
115
1.35
0.41
1.7
1.4
—
—
—
0
0
0
19
0.00
0.39
0.0
1.3
—
242.66
—
0
19
24
201
1.24
0.36
1.6
1.3
26.27
26.02
iu/ml
—
7
62
19
155
1.27
0.35
2.9
3.4
7.71
596.82
ng/l
1.38
14
110
6
89
0.66
0.34
1.5
1.9
—
—
—
0
0
6
46
1.32
0.33
1.8
1.8
—
—
—
0
0
26
224
1.20
0.30
2.0
2.3
—
—
—
0
0
11
86
1.31
0.27
2.4
13.7
0.92
1.20
mmol/l
—
6
71
20
170
1.21
0.26
1.4
1.3
0.93
5.19
u/ml
—
7
67
46
423
1.14
0.25
2.4
1.9
1.38
1.38
mmol/l
0.00
36
357
16
134
1.22
0.24
2.8
2.8
1.80
1.89
e6/l
—
10
61
7
95
0.72
0.23
1.6
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
3.5
—
24.43
—
0
11
0
10
0.00
0.21
0.0
1.7
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.7
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
2.1
—
13.45
—
0
10
0
10
0.00
0.21
0.0
1.7
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
14
0.00
0.20
0.0
1.5
—
—
—
0
0
6
50
1.21
0.20
1.8
2.0
—
—
—
0
0
7
58
1.22
0.18
1.0
1.1
—
—
—
0
0
8
72
1.12
0.16
3.4
2.4
0.33
0.19
e6/l
—
8
72
17
150
1.16
0.15
2.1
2.7
1.83
0.84
e6/l
0.24
11
78
6
55
1.10
0.09
2.3
3.2
52.50
101.36
ng/l
—
6
49
23
241
0.94
0.04
2.2
2.9
0.49
0.69
ug/l
1.66
14
139
37
371
1.00
0.00
3.5
4.5
1.40
1.75
ug/l
0.78
32
337
65
645
1.02
0.00
2.6
3.3
—
—
—
0
0
9
90
1.00
-0.00
2.0
13.2
5.03
5.20
kpa
—
9
84
0
8
0.00
-0.00
0.0
1.9
—
14.13
—
0
8
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
1539.88
—
0
8
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
1.04
—
0
5
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
9
90
1.00
-0.00
2.0
13.2
12.67
11.27
kpa
—
9
85
0
6
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
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
12.71
—
0
7
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
(40770918) von Willebrand factor (vWf).activity actual/normal in Platelet poor plasma by Immunoassay
0
5
0.00
-0.00
0.0
3.4
—
111.20
—
0
5
0
8
0.00
-0.00
0.0
1.6
—
—
—
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
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
5
49
1.02
-0.00
4.6
2.1
1.22
1.44
%
—
5
49
Mortality – FinRegistry
↥Association
Association between endpoint E4_CARBONAS and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have E4_CARBONAS.| 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_CARBONAS – Disorder of carbohydrate metabolism, other/unspecified
GWS hits: -
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
Loading data