Gilbert syndrome: An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
272 |
4. Check minimum number of eventsNone |
272 |
5. Include endpointsNone |
272 |
6. Filter based on genotype QC (FinnGen only) |
272 |
Control definitions (FinnGen only)
- Control exclude
- E4_METABOLIA
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- E80
- Name in latin
- Syndroma Gilbert
Similar endpoints
↥List of similar endpoints to
Gilbert syndrome
based on the number of shared cases.
Similar with more cases:
- Disorders of porphyrin and bilirubin 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 | 2080 | 758 | 1310 |
| Only index persons | 1976 | 732 | 1244 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.02 | 0.04 |
| Only index persons | 0.04 | 0.03 | 0.05 |
| Median age at first event (years) | |||
| Whole population | 35.03 | 37.47 | 33.51 |
| Only index persons | 34.37 | 36.95 | 32.86 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 272 | 113 | 159 |
| Unadjusted period prevalence (%) | 0.06 | 0.04 | 0.07 |
| Median age at first event (years) | 41.55 | 39.84 | 42.76 |
-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
- 244
- Matched controls
- 2440
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E80.4
ICD-10 Finland
Gilbert syndrome
+∞
294.0
219
*
R17
ICD-10 Finland
Hyperbilirubinaemia, with or without jaundice, not elsewhere classified
42.4
24.6
30
8
27350
ICD-8 Finland
Other and unspecified congenital disorders of metabolism, Icterus intermittens juvenilis
+∞
16.9
16
*
2774A
ICD-9 Finland
Other and unspecified disorders of metabolism, Disorders of bilirubin excretion[SYNDROMA GILBERT]
+∞
13.7
13
*
57308
ICD-8 Finland
Other diseases of liver, Alii definiti
+∞
11.5
11
*
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
2.7
11.5
105
534
A06AC01
ATC
ispaghula (psylla seeds); oral
3.0
9.6
61
244
K21.9
ICD-10 Finland
Gastro-oesophageal reflux disease without oesophagitis
4.1
8.6
33
89
E80.7
ICD-10 Finland
Disorder of bilirubin metabolism, unspecified
+∞
8.4
8
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.5
8.4
74
357
Z01.8
ICD-10 Finland
Other specified special examinations
2.5
7.0
62
296
A02BC02
ATC
pantoprazole; systemic
2.0
6.2
142
1012
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
185
1051
3.38
19.92
7.8
6.7
31.4
11.3
umol/l
17.24
178
1001
37
75
5.55
17.93
1.9
2.0
0.9
1.4
g/l
3.12
32
64
217
1587
2.82
11.05
9.3
7.4
76.0
77.1
u/l
0.18
208
1494
55
210
3.03
11.00
5.6
4.5
205.4
235.0
u/l
2.35
50
204
122
710
2.30
10.12
3.8
3.3
32.2
30.3
u/l
0.40
117
678
23
54
4.56
9.32
1.3
1.8
—
—
—
0
0
204
1516
2.38
8.88
4.5
3.9
7.1
9.9
mm/h
3.60
194
1416
105
623
2.12
7.87
2.8
2.3
60.9
55.5
u/l
1.51
98
584
202
1543
2.20
7.49
4.0
3.1
47.4
43.2
u/l
0.34
196
1471
132
900
1.91
6.33
5.2
6.5
1.2
1.2
mmol/l
1.10
118
779
129
880
1.89
6.12
3.0
2.6
153.7
122.8
ug/l
1.06
123
827
120
801
1.89
6.08
4.8
4.6
38.2
36.4
g/l
3.87
114
759
81
484
1.96
5.66
1.3
1.3
0.8
1.4
u/ml
0.77
22
123
8
5
16.41
5.44
1.6
2.6
169.6
237.8
u/l
—
8
5
249
2188
2.63
4.99
14.6
11.7
17.5
23.1
mg/l
2.94
190
1676
192
1538
1.84
4.98
3.8
3.6
14.9
14.7
pmol/l
0.44
177
1415
223
1884
2.02
4.79
4.6
4.1
1.9
1.9
mu/l
0.03
209
1747
75
473
1.81
4.31
2.4
3.0
685.5
885.3
ng/l
0.43
66
392
72
459
1.77
3.96
1.7
1.6
—
—
—
0
0
114
825
1.66
3.94
5.3
6.0
1.2
1.2
mmol/l
3.98
108
769
11
29
3.91
3.84
1.3
1.3
—
—
—
0
0
190
1577
1.68
3.72
3.6
3.3
—
—
—
0
0
68
438
1.74
3.58
1.8
1.8
1.1
1.1
mg/l
0.05
40
334
152
1214
1.57
3.31
10.8
10.2
3.8
3.9
e9/l
0.33
132
1064
102
746
1.59
3.24
2.1
2.3
78.3
73.4
nmol/l
1.08
97
685
228
2025
1.78
3.08
12.6
10.5
85.8
87.4
ml/min/173m2
0.59
202
1630
6
9
6.79
2.88
1.0
1.0
—
—
—
0
0
241
2191
1.88
2.81
15.1
12.9
3.9
4.0
mmol/l
2.09
235
2134
52
332
1.70
2.79
3.1
2.4
0.5
0.8
e6/l
0.73
28
185
228
2042
1.72
2.77
4.5
4.0
5.6
5.8
mmol/l
2.47
216
1899
41
250
1.75
2.59
4.3
3.8
35.3
30.9
%
1.41
33
173
93
696
1.51
2.57
3.4
3.1
20.9
34.4
ng/l
0.93
56
437
49
316
1.67
2.54
1.5
1.8
335.8
434.6
pmol/l
2.84
38
269
68
477
1.57
2.51
2.1
2.3
—
—
—
0
0
5
8
6.34
2.38
1.4
1.0
7.7
8.2
ug/l
—
5
8
137
1142
1.40
2.03
3.8
4.6
6.5
6.6
mmol/l
0.25
131
1057
47
318
1.58
2.02
1.7
1.6
908.2
1188.9
nmol/l
1.96
38
248
44
295
1.59
1.96
3.3
2.5
5.4
1.4
e6/l
0.39
21
149
233
2147
1.59
1.96
4.1
3.9
4.5
4.7
mmol/l
2.57
226
2019
6
16
3.81
1.94
2.3
4.8
85.3
88.6
%
—
6
16
119
974
1.39
1.94
6.2
4.0
0.0
0.0
estimate
0.00
17
189
94
739
1.42
1.93
4.7
4.4
1.9
2.4
ug/l
0.37
88
672
120
987
1.39
1.89
4.2
3.0
0.0
0.0
estimate
0.00
17
179
62
453
1.48
1.87
4.8
3.0
1.0
1.0
kg/l
0.54
20
62
6
17
3.58
1.84
1.3
1.2
—
—
—
0
0
91
717
1.40
1.83
2.3
1.8
95.3
98.2
pmol/l
0.28
59
393
87
681
1.41
1.82
3.7
2.9
—
—
—
0
0
230
2139
1.49
1.57
4.2
3.8
1.4
1.4
mmol/l
0.09
222
2004
116
971
1.34
1.56
4.2
3.0
0.0
0.0
estimate
0.00
16
188
5
15
3.37
1.53
2.0
2.3
—
—
—
0
0
29
188
1.61
1.50
2.6
4.7
2.7
28.6
ug/l
0.61
19
157
59
446
1.41
1.49
2.8
2.0
2.8
3.1
mg/l
0.50
50
399
69
540
1.37
1.42
3.5
2.8
0.1
0.4
e6/l
1.72
49
399
232
2173
1.46
1.40
4.5
4.2
2.6
2.8
mmol/l
2.58
223
2030
12
61
2.01
1.35
1.3
1.4
217.0
193.5
u/ml
—
6
36
47
350
1.41
1.29
1.2
1.3
0.9
5.5
u/ml
1.58
13
134
6
25
2.43
1.25
1.3
2.0
1.8
2.9
nmol/l
—
6
25
12
63
1.95
1.25
1.3
1.4
—
—
—
0
0
11
56
2.00
1.24
1.2
1.6
—
—
—
0
0
39
283
1.44
1.23
1.9
2.1
—
—
—
0
0
43
318
1.42
1.23
2.0
2.2
—
—
—
0
0
75
608
1.32
1.22
3.5
4.1
24.6
22.2
%
0.59
36
286
91
759
1.30
1.21
4.3
3.0
—
—
—
0
0
12
64
1.92
1.20
4.8
1.9
3.2
3.7
g/l
—
7
52
12
64
1.92
1.20
4.7
1.9
—
—
—
0
0
29
200
1.50
1.18
12.7
17.8
1.5
1.3
inr
—
6
32
55
428
1.36
1.17
1.5
1.5
15.2
20.0
nmol/l
2.64
46
375
13
72
1.85
1.17
1.2
1.9
—
192.0
—
0
5
8
39
2.08
1.16
1.1
1.2
—
—
—
0
0
0
36
0.00
1.15
0.0
1.6
—
—
—
0
0
220
2063
1.35
1.13
3.8
3.5
1.2
1.3
mmol/l
0.57
213
1928
74
608
1.30
1.09
6.0
3.2
2.4
2.4
mmol/l
0.16
69
545
7
32
2.22
1.09
2.1
6.4
—
3404.6
—
0
8
63
507
1.32
1.08
3.4
2.7
329.1
3297.1
umol/l
1.31
56
449
7
33
2.15
1.06
1.1
1.3
—
—
—
0
0
48
372
1.35
1.06
1.2
1.3
27.0
35.7
iu/ml
0.25
14
109
56
445
1.33
1.05
2.4
2.8
0.8
0.7
ug/l
0.41
33
286
20
134
1.53
0.95
3.5
3.5
5.1
5.2
kpa
0.19
20
125
105
915
1.24
0.94
3.6
3.9
—
—
—
0
0
19
126
1.55
0.94
3.6
3.6
2.8
1.5
mmol/l
1.40
13
100
6
27
2.25
0.94
1.0
1.1
—
—
—
0
0
23
161
1.47
0.90
3.2
3.3
1.7
2.1
mmol/l
0.23
14
121
11
64
1.75
0.87
1.3
2.0
—
—
—
0
0
8
44
1.84
0.86
1.5
1.3
78.4
300.5
pmol/l
—
8
44
15
96
1.60
0.86
1.6
1.9
39.7
41.5
u/l
0.14
15
87
43
343
1.30
0.80
1.6
2.0
1.4
1.4
%
0.07
38
315
11
67
1.67
0.76
1.1
1.1
—
—
—
0
0
8
136
0.58
0.75
1.1
1.3
—
—
—
0
0
13
84
1.58
0.73
1.5
1.3
—
—
—
0
0
5
27
1.87
0.69
1.2
1.2
—
—
—
0
0
13
189
0.67
0.66
2.8
2.9
—
—
—
0
0
7
44
1.61
0.65
1.4
1.3
—
—
—
0
0
61
522
1.22
0.64
1.6
1.7
1.3
1.4
mmol/l
0.61
53
449
5
29
1.74
0.64
1.2
1.2
—
—
—
0
0
11
71
1.57
0.63
2.2
3.1
9.1
111.7
u/ml
0.85
11
60
0
20
0.00
0.60
0.0
3.3
—
—
—
0
0
0
20
0.00
0.60
0.0
1.4
—
—
—
0
0
0
21
0.00
0.60
0.0
1.8
—
—
—
0
0
15
106
1.44
0.59
1.8
1.7
—
—
—
0
0
15
107
1.43
0.56
8.5
4.9
23.7
25.2
mmol/l
1.21
15
107
10
65
1.56
0.56
1.3
1.2
—
—
—
0
0
39
324
1.24
0.55
3.2
2.9
2.4
2.4
mmol/l
1.32
39
288
6
40
1.51
0.52
1.2
1.1
—
—
—
0
0
216
2083
1.18
0.49
16.3
12.3
41.2
41.2
%
0.04
173
1626
8
118
0.67
0.47
4.1
10.4
24.8
24.3
mmol/l
—
8
112
8
57
1.42
0.42
1.6
1.1
—
—
—
0
0
16
123
1.32
0.41
1.3
1.5
—
—
—
0
0
0
15
0.00
0.41
0.0
1.5
—
—
—
0
0
5
34
1.48
0.40
1.0
1.0
—
—
—
0
0
8
61
1.32
0.40
1.4
1.7
—
—
—
0
0
15
115
1.32
0.39
1.1
1.0
—
—
—
0
0
11
80
1.39
0.39
1.4
2.3
—
—
—
0
0
9
68
1.33
0.38
1.4
1.9
224.6
251.2
pmol/l
—
9
63
6
45
1.34
0.34
6.7
1.4
—
—
—
0
0
6
47
1.28
0.32
4.0
2.5
25.2
25.1
mmol/l
—
6
39
7
55
1.28
0.30
2.4
1.9
—
—
—
0
0
17
139
1.24
0.29
1.6
1.2
27.7
130.6
iu/ml
—
7
62
7
56
1.26
0.29
1.7
1.4
—
—
—
0
0
33
290
1.16
0.28
1.6
1.8
—
—
—
0
0
5
71
0.70
0.26
1.0
1.2
—
—
—
0
0
5
72
0.69
0.26
1.0
1.2
—
—
—
0
0
29
257
1.14
0.23
1.8
1.7
—
—
—
0
0
5
39
1.29
0.23
1.2
1.2
—
—
—
0
0
10
79
1.28
0.22
10.8
11.8
24.0
24.3
mmol/l
—
10
73
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
14
117
1.21
0.21
1.5
1.4
—
—
—
0
0
0
14
0.00
0.20
0.0
1.6
—
—
—
0
0
6
52
1.16
0.19
1.0
1.6
—
—
—
0
0
6
52
1.16
0.19
1.7
1.4
—
—
—
0
0
8
72
1.11
0.16
1.5
1.6
—
—
—
0
0
10
118
0.84
0.14
11.0
9.1
0.7
0.7
%
—
10
118
18
160
1.13
0.14
1.7
2.0
—
—
—
0
0
15
170
0.88
0.14
7.8
9.6
132.5
125.3
g/l
0.42
15
164
37
347
1.08
0.12
3.5
3.2
13.2
284.6
ng/l
2.48
26
236
197
1943
1.05
0.11
5.4
4.7
37.6
38.7
mmol/mol
0.79
187
1830
22
237
0.92
0.09
6.4
6.8
—
—
—
0
0
30
283
1.07
0.08
1.6
1.4
—
—
—
0
0
9
103
0.87
0.06
1.6
1.6
—
—
—
0
0
9
104
0.86
0.06
2.1
1.6
—
—
—
0
0
17
158
1.08
0.06
2.2
2.8
67.2
72.1
ml/min/173m2
—
5
63
11
118
0.93
0.03
10.1
9.1
1.3
1.7
%
0.86
11
118
54
533
1.02
0.01
4.1
3.2
0.0
0.0
estimate
0.50
17
183
11
104
1.06
0.01
1.2
1.5
1.0
3.3
mg/l
—
6
73
11
116
0.95
0.00
10.1
9.3
96.2
93.5
%
3.14
11
116
22
214
1.03
0.00
1.7
1.7
—
—
—
0
0
13
133
0.98
0.00
1.7
1.9
—
—
—
0
0
22
217
1.02
0.00
1.8
1.8
—
—
—
0
0
23
225
1.02
0.00
6.0
6.2
105.1
104.3
mmol/l
0.34
23
220
0
6
0.00
0.00
0.0
1.0
—
—
—
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
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
0.00
0.0
7.6
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
8
80
1.00
0.00
4.0
2.5
37.8
51.2
%
—
8
80
6
63
0.95
0.00
2.7
3.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
94.0
—
0
9
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
2.1
—
139.8
—
0
7
Mortality – FinRegistry
↥Association
Association between endpoint E4_GILBERT and mortality.
Females
No dataMales
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_GILBERT | 1.128 [0.89, 1.43] | 0.317 |
| Birth year | 0.984 [0.97, 0.99] | 0.002 |
During the follow-up period (1.1.1998 — 31.12.2019), 100 out of 970 males with E4_GILBERT died.
Mortality risk
Mortality risk for people of age
years, who have E4_GILBERT.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | 0.198% |
| 5 | No data | 1.228% |
| 10 | No data | 3.072% |
| 15 | No data | 5.6% |
| 20 | No data | 9.732% |
Relationships between endpoints
↥Index endpoint: E4_GILBERT – Gilbert syndrome
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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