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 |
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. |
307 |
4. Check minimum number of eventsNone |
307 |
5. Include endpointsNone |
307 |
6. Filter based on genotype QC (FinnGen only) |
278 |
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 | 278 | 118 | 160 |
| Unadjusted period prevalence (%) | 0.06 | 0.04 | 0.07 |
| Median age at first event (years) | 42.56 | 39.76 | 44.62 |
-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
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
- 295
- Matched controls
- 2950
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E80.4
ICD-10 Finland
Gilbert syndrome
+∞
307.7
272
*
R17
ICD-10 Finland
Hyperbilirubinaemia, with or without jaundice, not elsewhere classified
31.3
27.4
36
13
K21.9
ICD-10 Finland
Gastro-oesophageal reflux disease without oesophagitis
4.6
17.3
45
111
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
2.8
15.9
131
664
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
*
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
3.3
12.5
54
189
57308
ICD-8 Finland
Other diseases of liver, Alii definiti
+∞
11.5
11
*
Z01.8
ICD-10 Finland
Other specified special examinations
2.5
10.6
80
376
R10.1
ICD-10 Finland
Pain localized to upper abdomen
2.7
10.6
65
276
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.5
10.5
88
434
Z03.89
ICD-10 Finland
Observation for other suspected diseases and conditions
2.9
10.2
54
212
A06AC01
ATC
ispaghula (psylla seeds); oral
2.3
8.6
78
395
K80.2
ICD-10 Finland
Calculus of gallbladder without cholecystitis
3.1
8.5
38
135
JN1AE, ,
SPAT
4.3
8.4
22
54
K21.0
ICD-10 Finland
Gastro-oesophageal reflux disease with oesophagitis
3.1
8.1
35
122
R00.2
ICD-10 Finland
Palpitations
3.2
8.1
33
111
A02BC05
ATC
esomeprazole; systemic
2.0
7.6
117
725
K30
ICD-10 Finland
Functional dyspepsia
2.8
7.6
41
162
UJF32
NOMESCO Finland
Coloscopy
2.2
7.5
75
395
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
3.2
7.4
31
106
JL5BG
NOMESCO Finland
MRI examinaiton of bile and pancreas ducts with high intesity magnet
6.9
7.2
17
26
D06
ICPC
Abdominal pain localized other
3.0
7.1
33
120
K21
ICD-10 Finland
Gastro-oesophageal reflux disease
3.4
6.9
25
78
I49.3
ICD-10 Finland
Ventricular premature depolarization
3.2
6.8
27
89
R01AD12
ATC
fluticasone furoate; nasal
1.9
6.4
102
633
JJ1LE
NOMESCO Finland
Ultrasound elastography of liver
9.6
6.3
12
13
A11
ICPC
Chest pain NOS
3.1
6.2
26
89
JKA21
NOMESCO Finland
Laparoscopic cholecystectomy
2.7
6.0
33
131
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
135
291
7.71
66.46
3.4
3.5
11.77
8.16
umol/l
0.97
130
251
220
1236
4.07
25.98
8.7
7.3
30.05
11.60
umol/l
37.24
213
1182
48
93
5.97
24.55
1.8
2.0
0.94
1.45
g/l
3.43
39
85
251
1824
3.52
14.44
10.4
8.3
75.96
78.22
u/l
0.53
245
1738
243
1768
3.12
13.22
4.8
4.2
6.95
9.55
mm/h
4.31
233
1666
26
57
4.91
11.42
1.5
1.8
—
—
—
0
0
155
975
2.24
10.49
5.5
4.9
38.45
36.55
g/l
5.07
148
928
20
40
5.29
9.71
1.1
1.1
1.38
1.42
g/l
0.25
20
35
125
738
2.20
9.71
3.0
2.5
61.40
69.38
u/l
0.44
118
697
107
596
2.25
9.56
1.4
1.3
0.79
2.20
u/ml
1.01
27
156
11
6
18.97
7.66
4.8
2.5
169.91
222.17
u/l
—
11
6
17
39
4.56
7.06
1.2
1.3
—
—
—
0
0
97
588
1.97
6.52
2.8
3.0
655.62
860.31
ng/l
0.56
86
489
38
165
2.50
5.80
1.4
1.4
120.58
44.23
au/ml
—
5
12
259
2220
2.37
5.72
5.3
4.6
1.87
1.85
mu/l
0.12
248
2072
70
397
2.00
5.60
3.1
2.6
0.44
0.98
e6/l
1.72
34
208
39
178
2.37
5.35
2.7
2.6
20.74
18.21
au/ml
—
5
16
223
1837
1.88
5.10
4.2
3.9
15.07
14.69
pmol/l
1.49
206
1699
148
1086
1.73
5.05
6.9
6.9
1.22
1.21
mmol/l
1.41
137
950
155
1152
1.73
5.05
3.6
2.9
148.34
119.71
ug/l
1.19
149
1093
179
1394
1.72
4.84
11.6
10.9
3.66
3.91
e9/l
0.89
153
1224
163
1238
1.71
4.83
4.1
3.2
0.00
0.00
estimate
-0.00
23
253
187
1478
1.72
4.75
5.5
3.9
9.80
26.64
e6/l
—
5
22
61
348
1.95
4.75
3.1
2.8
4.74
1.54
e6/l
0.36
24
156
165
1261
1.70
4.75
4.2
3.3
0.00
0.00
estimate
-0.00
22
239
275
2465
2.71
4.73
17.6
13.1
18.68
23.50
mg/l
2.20
224
1970
162
1245
1.67
4.46
4.2
3.3
0.00
0.01
estimate
0.50
23
255
44
234
2.03
4.16
2.8
2.7
29.72
30.64
u/l
0.11
39
198
85
559
1.73
4.15
1.8
1.7
—
—
—
0
0
265
2366
2.18
4.10
15.7
12.2
85.95
87.41
ml/min/173m2
0.59
247
2148
131
972
1.63
4.01
7.1
6.5
1.23
1.21
mmol/l
2.25
126
919
209
1746
1.68
3.91
3.7
3.3
—
—
—
0
0
81
535
1.71
3.87
1.8
1.8
1.74
1.23
mg/l
0.25
48
410
10
22
4.67
3.46
1.2
1.2
—
—
—
0
0
90
630
1.62
3.39
3.4
2.9
0.11
0.37
e6/l
2.10
57
460
16
60
2.76
3.28
4.6
4.7
18.53
28.88
mg/l
1.51
16
55
15
55
2.82
3.20
4.9
4.3
1.41
1.77
ratio
—
10
34
257
2323
1.83
3.05
5.0
4.4
5.68
5.83
mmol/l
1.89
248
2164
86
627
1.52
2.64
1.9
1.6
17.55
20.09
nmol/l
1.14
76
540
7
15
4.75
2.61
1.0
1.0
—
—
—
0
0
(40770918) von Willebrand factor (vWf).activity actual/normal in Platelet poor plasma by Immunoassay
6
11
5.54
2.55
1.2
1.1
172.17
151.18
%
—
6
11
80
579
1.52
2.53
4.4
3.1
1.02
1.02
kg/l
0.82
47
367
7
16
4.45
2.49
2.0
2.6
—
—
—
0
0
8
22
3.71
2.38
2.3
4.0
90.13
91.05
%
—
8
22
19
92
2.14
2.33
1.7
1.6
4.33
6.91
u/ml
—
6
23
61
425
1.55
2.28
1.2
1.3
3.68
7.45
u/ml
0.55
23
156
16
73
2.26
2.25
2.5
2.7
24.98
25.02
mmol/l
0.02
16
73
79
584
1.48
2.24
2.1
2.4
—
—
—
0
0
11
41
2.75
2.23
1.8
5.6
—
3404.63
—
0
8
5
9
5.63
2.22
1.4
1.0
7.66
8.31
ug/l
—
5
9
121
971
1.42
2.22
2.4
1.9
94.42
99.00
pmol/l
0.66
80
528
110
870
1.42
2.18
5.4
4.9
1.98
2.46
ug/l
0.41
102
792
27
155
1.82
2.08
1.9
1.8
0.09
0.38
mg/l
—
8
61
5
10
5.06
2.08
2.0
1.3
—
—
—
0
0
55
388
1.51
1.94
1.6
1.7
332.42
35030374.37
pmol/l
0.50
45
334
116
949
1.37
1.82
4.0
3.0
22.73
0.01
estimate
0.48
22
220
24
139
1.79
1.82
7.8
6.6
24.20
25.28
mmol/l
1.06
24
139
48
334
1.52
1.81
1.7
1.6
920.60
1206.57
nmol/l
2.03
40
256
261
2443
1.59
1.79
4.9
4.4
1.43
1.43
mmol/l
0.01
254
2307
5
13
3.89
1.72
1.2
1.8
—
—
—
0
0
5
13
3.89
1.72
1.2
1.8
—
—
—
0
0
34
221
1.61
1.72
2.9
5.0
2.50
25.48
ug/l
0.64
22
183
102
827
1.36
1.67
3.7
3.1
19.36
31.52
ng/l
1.04
62
542
42
291
1.52
1.62
4.4
4.1
35.27
31.35
%
1.22
33
201
235
2166
1.42
1.62
21.3
16.9
336.48
333.98
g/l
3.83
235
2159
74
575
1.38
1.57
2.9
2.1
2.68
2.86
mg/l
0.34
63
507
86
685
1.36
1.57
3.1
2.6
13.16
0.00
estimate
0.48
19
207
262
2472
1.54
1.52
5.4
4.9
2.58
2.78
mmol/l
3.23
256
2338
32
213
1.56
1.48
3.2
3.4
1.43
1.89
mmol/l
0.33
26
180
87
704
1.33
1.42
4.0
4.2
23.51
22.25
%
0.28
40
335
9
41
2.23
1.38
3.4
3.0
6.97
4.97
umol/l
—
9
34
25
160
1.61
1.37
1.4
1.2
28.00
129.15
u/ml
—
9
71
53
399
1.40
1.35
2.1
2.3
—
—
—
0
0
9
42
2.18
1.35
1.0
1.7
—
304.00
—
0
5
18
106
1.74
1.33
1.4
1.3
—
—
—
0
0
68
536
1.35
1.32
2.9
2.9
0.77
0.73
ug/l
0.11
38
334
6
24
2.53
1.31
1.2
1.1
—
—
—
0
0
52
394
1.39
1.28
1.6
2.1
1.52
1.43
%
0.23
47
356
8
35
2.32
1.28
1.4
1.1
—
—
—
0
0
23
147
1.61
1.27
1.3
1.5
—
—
—
0
0
21
132
1.64
1.24
1.1
1.0
—
—
—
0
0
12
64
1.91
1.20
1.1
1.5
123.00
140.53
au/ml
—
5
20
73
591
1.31
1.18
3.6
2.9
326.23
342.58
umol/l
0.85
66
534
52
401
1.36
1.16
3.2
3.2
13.66
266.36
ng/l
3.61
38
267
246
2322
1.36
1.15
4.2
3.8
1.19
1.27
mmol/l
1.00
241
2181
14
80
1.79
1.15
1.3
1.4
225.25
194.28
u/ml
—
8
47
124
1082
1.25
1.10
2.7
2.8
—
—
estimate
—
0
0
19
121
1.61
1.08
1.8
1.8
—
—
—
0
0
21
138
1.56
1.06
3.5
3.6
2.84
1.69
mmol/l
1.36
14
111
7
35
2.02
1.00
1.0
1.0
—
—
—
0
0
47
366
1.34
1.00
2.1
2.1
—
—
—
0
0
39
295
1.37
0.99
5.7
6.7
104.05
104.65
mmol/l
0.29
39
295
8
145
0.54
0.95
1.1
1.3
—
—
—
0
0
7
37
1.91
0.94
1.3
1.3
—
—
—
0
0
6
27
2.25
0.94
1.3
2.3
1.80
2.88
nmol/l
—
6
27
6
32
1.89
0.82
1.0
1.1
—
—
—
0
0
8
47
1.72
0.81
1.1
1.2
—
—
—
0
0
10
58
1.75
0.80
1.7
3.0
1.60
1.95
index
—
5
38
81
698
1.22
0.78
3.8
3.3
0.00
0.00
estimate
0.50
22
240
0
28
0.00
0.76
0.0
1.8
—
—
—
0
0
57
474
1.25
0.76
1.4
1.3
16.43
31.93
iu/ml
1.28
15
126
9
55
1.66
0.74
1.6
1.3
—
—
—
0
0
7
38
1.86
0.74
1.3
1.4
—
—
—
0
0
13
84
1.57
0.73
1.5
1.2
—
—
—
0
0
5
25
2.02
0.73
1.2
1.1
—
—
—
0
0
5
25
2.02
0.73
1.0
1.1
—
—
—
0
0
5
26
1.94
0.71
1.0
1.2
—
—
—
0
0
11
69
1.62
0.69
1.5
1.2
—
—
—
0
0
5
27
1.87
0.68
1.2
1.1
—
—
—
0
0
17
119
1.45
0.68
3.2
2.5
0.54
0.61
%
0.53
17
119
43
351
1.26
0.67
1.9
1.9
—
—
—
0
0
5
28
1.80
0.66
1.2
2.6
—
—
—
0
0
11
70
1.59
0.66
1.2
1.5
—
—
—
0
0
16
222
0.70
0.64
2.5
3.2
—
—
—
0
0
5
29
1.74
0.64
2.4
1.8
0.56
0.65
e9/l
—
5
29
13
88
1.50
0.61
1.3
1.6
—
—
—
0
0
0
22
0.00
0.59
0.0
1.4
—
—
—
0
0
0
23
0.00
0.58
0.0
2.4
—
—
—
0
0
12
81
1.50
0.58
1.3
2.0
—
—
—
0
0
78
690
1.18
0.57
3.6
3.8
3.43
8.36
mg/mmol
1.55
53
436
23
180
1.30
0.51
3.1
2.8
58.75
72.70
ml/min/173m2
—
8
73
7
47
1.50
0.48
1.1
1.1
—
—
—
0
0
21
264
0.78
0.47
6.6
6.3
—
—
—
0
0
40
340
1.20
0.46
2.0
2.0
3.36
3.59
ratio
0.53
29
277
7
49
1.44
0.46
1.3
1.4
0.41
0.50
nmol/l
—
7
35
8
56
1.44
0.43
1.5
1.5
78.38
311.33
pmol/l
—
8
56
5
32
1.57
0.42
1.2
2.4
—
—
—
0
0
110
1021
1.12
0.41
1.9
1.9
1.31
1.37
mmol/l
0.37
92
895
0
17
0.00
0.41
0.0
1.5
—
—
—
0
0
0
17
0.00
0.41
0.0
1.5
—
—
—
0
0
5
34
1.48
0.40
1.8
3.0
19.62
16.36
%
—
5
34
31
262
1.20
0.39
2.1
1.7
—
—
—
0
0
235
2283
1.14
0.38
5.8
5.2
36.75
38.09
mmol/mol
1.86
226
2175
5
36
1.40
0.38
2.2
1.5
12.80
13.08
%
—
5
36
5
78
0.63
0.36
1.0
1.2
—
—
—
0
0
5
78
0.63
0.36
1.0
1.2
—
—
—
0
0
30
255
1.20
0.36
2.2
1.8
—
—
—
0
0
6
43
1.40
0.35
1.3
2.1
4.10
5.68
pmol/l
—
6
43
8
62
1.30
0.28
1.1
1.3
—
—
—
0
0
9
116
0.77
0.28
2.2
1.7
—
—
—
0
0
8
64
1.26
0.27
1.3
1.6
—
—
—
0
0
9
75
1.21
0.25
1.4
1.8
—
—
—
0
0
10
125
0.79
0.23
15.4
10.1
25.32
24.39
mmol/l
—
10
119
5
39
1.29
0.23
2.2
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.9
—
111.42
—
0
10
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
16
187
0.85
0.21
2.2
2.1
—
—
—
0
0
0
13
0.00
0.21
0.0
1.4
—
—
—
0
0
6
49
1.23
0.20
6.7
1.4
—
—
—
0
0
22
196
1.13
0.17
12.7
10.0
131.91
123.99
g/l
0.75
22
191
22
196
1.13
0.17
1.5
1.5
—
—
—
0
0
12
101
1.20
0.17
19.3
15.6
17.17
16.27
%
0.40
12
95
8
68
1.18
0.16
2.1
1.9
—
—
—
0
0
8
69
1.16
0.16
1.6
1.7
—
—
—
0
0
12
140
0.85
0.15
1.5
1.6
1020.68
873.24
mu/l
—
6
115
36
334
1.09
0.14
1.6
1.5
—
—
—
0
0
14
123
1.15
0.12
1.5
1.4
—
—
—
0
0
16
143
1.13
0.11
9.6
10.0
1.15
1.54
%
1.08
16
143
16
144
1.12
0.10
9.6
10.0
96.39
94.10
%
3.57
16
144
5
47
1.06
0.09
2.8
1.5
—
—
—
0
0
5
48
1.04
0.09
1.2
1.3
—
—
—
0
0
6
55
1.09
0.09
1.0
1.8
—
—
—
0
0
7
68
1.03
0.08
1.7
1.4
—
—
—
0
0
6
71
0.84
0.07
1.2
1.3
—
—
—
0
0
7
84
0.83
0.07
3.4
3.0
—
—
—
0
0
27
256
1.06
0.06
1.9
1.8
3.31
3.49
mmol/l
0.36
16
190
15
139
1.08
0.05
10.1
10.1
0.59
0.65
%
0.29
15
139
10
107
0.93
0.02
1.1
1.3
135.64
256.97
miu/ml
—
5
55
12
118
1.02
0.00
1.0
1.1
0.84
0.94
g/l
0.91
12
118
22
218
1.01
0.00
2.0
2.2
—
—
—
0
0
12
115
1.05
0.00
1.0
1.1
1.46
1.53
g/l
0.43
12
115
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
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
1.0
—
—
—
0
0
6
65
0.92
-0.00
2.5
1.8
—
—
—
0
0
5
57
0.88
-0.00
2.8
1.5
—
—
—
0
0
0
6
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
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
89.46
—
0
5
0
5
0.00
-0.00
0.0
1.8
—
—
—
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: 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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