Gilbert syndrome: An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
282 |
4. Check minimum number of eventsNone |
282 |
5. Include endpointsNone |
282 |
6. Filter based on genotype QC (FinnGen only) |
267 |
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 | 267 | 112 | 155 |
| Unadjusted period prevalence (%) | 0.06 | 0.04 | 0.07 |
| Median age at first event (years) | 41.96 | 39.76 | 43.54 |
-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
- 282
- Matched controls
- 2820
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E80.4
ICD-10 Finland
Gilbert syndrome
+∞
307.7
258
*
R17
ICD-10 Finland
Hyperbilirubinaemia, with or without jaundice, not elsewhere classified
34.9
26.6
34
11
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
2.9
17.0
126
612
27350
ICD-8 Finland
Other and unspecified congenital disorders of metabolism, Icterus intermittens juvenilis
+∞
15.8
15
*
2774A
ICD-9 Finland
Other and unspecified disorders of metabolism, Disorders of bilirubin excretion[SYNDROMA GILBERT]
+∞
14.7
14
*
E80.7
ICD-10 Finland
Disorder of bilirubin metabolism, unspecified
+∞
13.6
13
*
K21.9
ICD-10 Finland
Gastro-oesophageal reflux disease without oesophagitis
4.0
12.7
39
109
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.5
10.5
84
407
57308
ICD-8 Finland
Other diseases of liver, Alii definiti
114.1
10.5
11
*
Z01.8
ICD-10 Finland
Other specified special examinations
2.6
10.5
75
345
A06AC01
ATC
ispaghula (psylla seeds); oral
2.5
9.6
76
366
Z03.89
ICD-10 Finland
Observation for other suspected diseases and conditions
2.9
9.5
50
195
R10.1
ICD-10 Finland
Pain localized to upper abdomen
2.7
9.1
57
244
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
3.0
8.8
41
149
R00.2
ICD-10 Finland
Palpitations
3.3
7.8
30
97
K21.0
ICD-10 Finland
Gastro-oesophageal reflux disease with oesophagitis
3.1
7.7
33
114
K30
ICD-10 Finland
Functional dyspepsia
2.8
7.3
38
147
JL5BG
NOMESCO Finland
MRI examinaiton of bile and pancreas ducts with high intesity magnet
7.9
7.0
15
20
R01AD12
ATC
fluticasone furoate; nasal
2.0
6.9
97
581
K80.2
ICD-10 Finland
Calculus of gallbladder without cholecystitis
2.9
6.8
34
129
A02BC05
ATC
esomeprazole; systemic
2.0
6.7
110
692
JN1AE, ,
SPAT
4.1
6.5
18
46
UJF32
NOMESCO Finland
Coloscopy
2.1
6.5
69
370
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
3.1
6.4
28
98
I49.3
ICD-10 Finland
Ventricular premature depolarization
3.2
6.4
25
82
JKA21
NOMESCO Finland
Laparoscopic cholecystectomy
2.8
6.3
32
122
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
196
1076
3.69
23.44
7.6
6.7
31.69
11.37
umol/l
19.24
189
1026
38
79
5.40
17.89
1.9
2.0
0.85
1.42
g/l
3.59
33
67
133
735
2.53
13.05
3.7
3.2
31.59
30.49
u/l
0.22
128
703
227
1629
3.02
12.74
9.0
7.4
75.69
76.98
u/l
0.23
219
1534
58
218
3.09
11.93
5.3
4.3
203.77
236.37
u/l
2.89
53
212
112
635
2.27
9.72
2.8
2.3
61.51
64.37
u/l
0.15
105
595
23
54
4.55
9.31
1.3
1.7
—
—
—
0
0
211
1563
2.39
9.29
4.5
3.9
7.16
9.77
mm/h
3.43
202
1457
211
1601
2.26
8.18
4.0
3.1
47.14
44.04
u/l
0.25
206
1522
154
1061
1.99
7.44
6.3
6.2
28.93
28.47
%
0.22
149
1006
127
826
1.98
7.17
8.7
10.3
1.15
1.19
inr
0.24
33
231
126
824
1.96
6.94
4.6
4.5
38.44
36.43
g/l
4.77
120
781
86
496
2.06
6.73
1.3
1.3
0.75
2.28
u/ml
0.89
22
126
131
909
1.82
5.71
3.0
2.6
153.53
123.37
ug/l
1.05
125
853
132
921
1.81
5.62
5.2
6.4
1.22
1.21
mmol/l
1.04
121
796
259
2266
2.75
5.47
14.3
11.5
17.12
22.90
mg/l
3.27
201
1737
8
5
16.40
5.44
1.6
2.6
169.63
237.80
u/l
—
8
5
233
1954
2.11
5.40
4.6
4.1
1.89
1.86
mu/l
0.15
219
1815
198
1595
1.81
4.89
3.8
3.5
14.96
14.70
pmol/l
0.75
182
1467
77
488
1.79
4.32
2.4
2.9
673.27
853.11
ng/l
0.39
68
405
75
478
1.78
4.11
1.7
1.6
—
—
—
0
0
71
450
1.77
3.96
1.8
1.8
1.02
1.14
mg/l
0.19
42
343
115
844
1.61
3.65
5.2
6.0
1.23
1.21
mmol/l
3.69
110
788
56
338
1.82
3.65
3.0
2.4
0.51
0.82
e6/l
0.87
29
192
197
1646
1.65
3.64
3.6
3.3
—
—
—
0
0
12
31
4.00
3.53
1.2
1.3
—
—
—
0
0
157
1248
1.58
3.51
10.5
10.0
3.76
3.93
e9/l
0.41
136
1092
274
2592
3.01
3.07
21.1
17.0
4.62
4.62
e12/l
0.04
269
2525
236
2112
1.72
2.88
12.6
10.3
85.78
87.57
ml/min/173m2
0.69
209
1717
236
2114
1.71
2.84
4.5
3.9
5.65
5.83
mmol/l
2.04
225
1961
273
2590
2.69
2.83
21.3
17.1
41.41
43.04
%
0.42
264
2442
249
2267
1.84
2.79
15.0
12.6
3.92
3.96
mmol/l
1.93
244
2207
48
300
1.72
2.77
3.1
2.5
5.13
1.45
e6/l
0.38
22
154
6
10
6.10
2.71
1.0
1.0
—
—
—
0
0
6
11
5.55
2.55
2.0
2.6
34550.00
36909.09
ug/l
—
6
11
5
8
6.34
2.38
1.4
1.0
7.66
8.15
ug/l
—
5
8
94
718
1.46
2.29
3.4
3.0
20.70
34.38
ng/l
0.99
57
456
69
500
1.50
2.17
2.1
2.3
—
—
—
0
0
140
1161
1.41
2.14
3.8
4.5
6.51
6.54
mmol/l
0.07
135
1074
123
1000
1.41
2.10
6.0
4.0
0.00
0.00
estimate
-0.00
17
195
124
1011
1.40
2.07
4.1
2.9
0.00
0.00
estimate
-0.00
17
187
241
2220
1.59
2.01
4.1
3.8
4.44
4.69
mmol/l
3.17
235
2089
40
260
1.63
2.01
4.3
3.7
35.30
31.19
%
1.29
33
185
98
771
1.42
2.00
4.7
4.4
1.93
2.40
ug/l
0.39
92
702
47
319
1.57
1.98
1.7
1.6
924.43
1188.95
nmol/l
1.75
39
246
48
332
1.54
1.87
1.5
1.7
336.34
432.96
pmol/l
2.77
38
284
63
462
1.47
1.86
4.8
3.0
1.02
1.02
kg/l
0.42
21
63
93
736
1.39
1.81
2.3
1.8
94.85
98.46
pmol/l
0.40
63
404
11
47
2.39
1.80
5.3
4.6
20.32
29.94
mg/l
0.97
11
42
31
195
1.66
1.78
2.5
4.6
2.69
27.71
ug/l
0.61
19
163
89
704
1.39
1.73
3.6
2.8
—
—
—
0
0
120
996
1.36
1.72
4.1
2.9
0.00
0.00
estimate
-0.00
17
203
72
551
1.41
1.69
3.5
2.7
0.10
0.40
e6/l
2.29
52
413
6
19
3.20
1.67
1.3
1.2
—
—
—
0
0
238
2212
1.49
1.63
4.2
3.8
1.44
1.44
mmol/l
0.11
231
2075
6
20
3.04
1.59
2.3
4.0
85.33
90.25
%
—
6
20
13
64
2.08
1.56
1.3
1.4
208.14
190.13
u/ml
—
7
39
46
328
1.48
1.56
2.0
2.2
—
—
—
0
0
49
354
1.46
1.56
1.2
1.3
0.86
5.44
u/ml
1.59
14
135
0
42
0.00
1.54
0.0
1.5
—
—
—
0
0
5
15
3.37
1.53
2.0
2.3
—
—
—
0
0
13
66
2.02
1.46
1.3
1.3
—
—
—
0
0
240
2249
1.45
1.42
4.5
4.1
2.61
2.83
mmol/l
3.28
232
2105
60
459
1.39
1.41
2.7
2.0
2.83
3.06
mg/l
0.42
50
411
41
294
1.46
1.36
1.9
2.1
—
—
—
0
0
94
781
1.31
1.28
4.1
3.0
—
—
—
0
0
6
25
2.43
1.25
1.3
2.0
1.80
2.95
nmol/l
—
6
25
12
63
1.94
1.24
4.8
1.9
—
—
—
0
0
228
2132
1.36
1.24
3.8
3.5
1.20
1.27
mmol/l
0.83
222
1992
11
58
1.93
1.13
1.2
1.6
—
—
—
0
0
13
73
1.82
1.13
1.2
1.9
—
304.00
—
0
5
56
440
1.34
1.12
1.5
1.4
14.81
20.28
nmol/l
3.37
48
386
49
378
1.36
1.10
1.2
1.3
26.99
35.62
iu/ml
0.24
14
108
7
32
2.22
1.09
2.1
6.3
—
3404.62
—
0
8
7
33
2.15
1.06
1.1
1.2
—
—
—
0
0
76
629
1.29
1.05
5.9
3.2
2.36
2.35
mmol/l
0.09
71
565
76
630
1.28
1.04
3.5
4.0
24.33
21.99
%
0.58
36
298
9
47
1.94
1.03
1.4
1.3
—
—
—
0
0
16
99
1.65
1.02
1.6
1.9
40.13
41.86
u/l
0.14
16
90
5
23
2.19
0.98
1.0
1.3
—
—
—
0
0
6
27
2.25
0.94
1.0
1.1
—
—
—
0
0
57
462
1.29
0.92
2.5
2.8
0.82
0.71
ug/l
0.31
33
295
14
86
1.66
0.92
1.5
1.3
—
—
—
0
0
8
44
1.84
0.86
1.1
1.2
—
—
—
0
0
12
72
1.70
0.86
1.3
2.0
—
—
—
0
0
12
72
1.70
0.86
1.2
1.1
—
—
—
0
0
45
357
1.31
0.86
1.6
2.0
1.40
1.43
%
0.10
40
325
8
138
0.57
0.85
1.1
1.3
—
—
—
0
0
108
953
1.22
0.84
2.5
2.5
—
—
—
0
0
8
47
1.72
0.81
1.5
1.4
78.38
283.03
pmol/l
—
8
47
6
33
1.84
0.79
2.8
3.1
8.92
4.65
umol/l
—
6
26
19
132
1.47
0.78
3.6
3.6
2.81
1.58
mmol/l
1.36
13
108
16
107
1.53
0.78
1.8
1.7
—
—
—
0
0
23
167
1.41
0.76
3.2
3.3
1.92
2.11
mmol/l
0.10
16
131
11
69
1.62
0.69
1.5
1.2
—
—
—
0
0
5
27
1.87
0.69
2.4
1.9
563.00
639.56
e6/l
—
5
27
62
529
1.22
0.66
3.4
2.7
327.91
3915.96
umol/l
1.57
56
472
5
29
1.74
0.64
1.2
1.3
—
—
—
0
0
0
20
0.00
0.60
0.0
1.4
—
—
—
0
0
0
22
0.00
0.59
0.0
3.1
—
—
—
0
0
0
23
0.00
0.58
0.0
1.7
—
—
—
0
0
11
73
1.53
0.57
2.2
3.0
9.09
111.30
u/ml
0.85
11
60
14
194
0.71
0.57
2.6
2.9
—
—
—
0
0
8
55
1.47
0.56
1.6
1.2
—
—
—
0
0
16
117
1.39
0.53
1.1
1.0
—
—
—
0
0
15
109
1.40
0.52
8.5
4.9
23.72
25.16
mmol/l
1.20
15
109
6
40
1.51
0.52
1.2
1.1
—
—
—
0
0
60
530
1.17
0.46
1.6
1.6
1.30
1.39
mmol/l
0.47
52
459
5
31
1.62
0.43
1.0
1.0
—
—
—
0
0
8
57
1.42
0.42
2.3
1.9
—
—
—
0
0
5
32
1.57
0.42
1.2
1.1
—
—
—
0
0
59
524
1.16
0.42
3.4
3.6
4.02
7.93
mg/mmol
0.95
41
336
16
123
1.32
0.41
1.3
1.5
—
—
—
0
0
0
15
0.00
0.41
0.0
1.5
—
—
—
0
0
18
142
1.29
0.39
1.6
1.2
27.71
131.05
iu/ml
—
7
64
9
67
1.35
0.38
1.4
1.8
—
—
—
0
0
8
114
0.69
0.38
1.6
1.6
—
—
—
0
0
5
37
1.36
0.37
2.8
3.9
58.20
55.49
%
—
5
37
11
82
1.36
0.34
1.4
2.1
—
—
—
0
0
6
46
1.31
0.33
6.7
1.4
—
—
—
0
0
6
47
1.28
0.32
4.0
2.5
25.17
24.94
mmol/l
—
6
47
34
296
1.17
0.32
1.6
1.8
—
—
—
0
0
7
55
1.28
0.30
1.6
1.6
—
—
—
0
0
21
246
0.84
0.27
6.6
6.5
—
—
—
0
0
5
73
0.68
0.26
1.0
1.2
—
—
—
0
0
5
74
0.67
0.26
1.0
1.2
—
—
—
0
0
9
73
1.24
0.25
1.4
1.6
—
—
—
0
0
5
40
1.25
0.22
1.0
1.1
—
—
—
0
0
14
116
1.22
0.22
1.5
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
1.4
—
—
—
0
0
9
113
0.79
0.20
3.8
10.6
25.14
24.42
mmol/l
—
9
108
0
14
0.00
0.20
0.0
1.6
—
—
—
0
0
7
61
1.15
0.17
1.7
1.3
—
—
—
0
0
38
352
1.09
0.15
3.5
3.1
15.60
296.45
ng/l
2.58
27
235
9
106
0.84
0.13
2.1
1.7
—
—
—
0
0
18
161
1.13
0.13
2.3
2.7
67.20
73.18
ml/min/173m2
—
5
65
29
269
1.09
0.12
1.8
1.7
—
—
—
0
0
10
115
0.86
0.11
11.0
9.0
0.70
0.69
%
—
10
115
6
54
1.11
0.09
1.0
1.6
—
—
—
0
0
31
293
1.07
0.08
1.6
1.4
—
—
—
0
0
203
2012
1.03
0.06
5.3
4.6
37.71
38.50
mmol/mol
0.54
193
1900
13
140
0.93
0.04
1.7
1.9
—
—
—
0
0
18
170
1.06
0.04
1.7
2.0
—
—
—
0
0
22
213
1.04
0.01
1.7
1.7
—
—
—
0
0
23
227
1.01
0.00
6.0
5.9
105.09
104.41
mmol/l
0.27
23
227
11
115
0.95
0.00
10.1
9.0
1.28
1.69
%
0.83
11
115
11
114
0.96
0.00
10.1
9.1
96.21
93.54
%
3.04
11
114
22
216
1.02
0.00
1.8
1.7
—
—
—
0
0
6
68
0.88
0.00
2.7
3.1
—
—
—
0
0
8
84
0.95
-0.00
4.0
2.5
37.75
53.07
%
—
8
84
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
7.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
55
550
1.00
-0.00
3.9
3.1
0.00
0.01
estimate
0.50
17
190
0
5
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
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.1
—
139.84
—
0
7
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
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: 2
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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