Disorder of bilirubin metabolism, other/unspecified

E4_PORBILIRNAS

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 E80.6, E80.7
  • Hospital discharge: ICD-9 2774X
  • Cause of death: ICD-10 E80.6, E80.7
  • Cause of death: ICD-9 2774X

2 out of 7 registries used, show all original rules.

60

4. Check minimum number of events

None

60

5. Include endpoints

None

60

6. Filter based on genotype QC (FinnGen only)

57

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2

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 486 210 276
Only index persons 423 185 238
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population - 43.10 42.16
Only index persons 42.70 45.65 40.40

-FinnGen-

Key figures

All Female Male
Number of individuals 57 25 32
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 58.50 62.50 55.38

-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
58
Matched controls
580
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E80.7
ICD-10 Finland
Disorder of bilirubin metabolism, unspecified
+∞
39.0
33
*
E80.6
ICD-10 Finland
Other disorders of bilirubin metabolism
+∞
26.0
23
*
E80.4
ICD-10 Finland
Gilbert syndrome
+∞
8.5
8
*

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
17
10
23.34
12.10
1.4
1.2
—
—
titre
—
0
0
7
5
15.63
4.70
1.0
1.0
1.58
1.42
g/l
—
7
5
18
66
3.50
4.23
1.3
1.5
—
—
—
0
0
25
114
3.10
4.12
1.5
1.4
1.73
2.31
g/l
1.15
18
68
36
211
2.86
3.65
22.9
10.9
1.35
1.21
inr
0.82
30
171
34
206
2.57
3.05
10.0
5.8
35.69
35.47
g/l
0.07
34
192
15
60
3.02
2.99
2.9
3.8
1.91
1.81
%
0.08
15
53
17
74
2.84
2.92
1.4
1.6
—
—
—
0
0
26
146
2.42
2.66
3.4
3.0
—
—
—
0
0
35
230
2.32
2.44
10.2
9.0
1.23
1.22
mmol/l
0.18
30
195
16
75
2.57
2.35
1.8
1.6
—
—
—
0
0
10
37
3.05
2.20
15.7
14.8
24.28
24.44
mmol/l
—
10
37
8
25
3.54
2.19
1.1
1.2
—
—
—
0
0
37
257
2.21
2.16
3.5
4.1
0.00
0.00
estimate
—
9
59
26
157
2.19
2.16
6.0
9.9
—
—
—
0
0
24
141
2.20
2.12
1.5
1.4
—
—
—
0
0
8
27
3.27
2.02
10.8
9.9
0.61
0.57
%
—
8
27
8
28
3.15
1.94
10.9
9.6
1.22
1.65
%
—
8
28
9
35
2.85
1.90
1.2
1.2
—
—
—
0
0
32
218
2.04
1.88
13.6
8.8
1.22
1.21
mmol/l
0.09
32
200
5
13
4.10
1.75
6.8
23.3
67.48
69.69
%
—
5
13
30
206
1.95
1.66
4.2
3.4
—
—
estimate
—
0
0
29
198
1.93
1.63
3.7
3.8
6.33
6.28
ph
0.09
18
107
14
73
2.21
1.60
13.4
8.4
104.21
104.97
mmol/l
0.23
14
73
38
286
1.95
1.57
9.6
14.3
3.69
3.93
e9/l
0.32
31
252
10
45
2.48
1.56
1.2
1.3
—
—
—
0
0
27
182
1.90
1.56
2.0
1.9
1.27
1.36
mmol/l
0.28
21
141
22
139
1.94
1.53
4.8
4.5
7.39
7.40
ph
0.76
13
97
35
259
1.89
1.50
5.9
9.0
0.17
0.19
e9/l
0.31
30
223
34
250
1.87
1.48
5.8
8.8
0.60
0.56
e9/l
0.43
29
215
35
260
1.87
1.47
3.5
4.1
0.00
0.00
estimate
—
9
57
5
16
3.32
1.47
2.4
1.9
—
—
—
0
0
26
177
1.85
1.43
3.2
4.2
9.01
42.79
e6/l
1.62
17
132
34
252
1.84
1.42
5.8
8.8
0.04
0.04
e9/l
0.21
29
214
20
127
1.88
1.35
4.7
4.7
—
—
—
0
0
35
265
1.81
1.34
3.5
4.1
0.00
0.00
estimate
—
9
55
25
172
1.80
1.31
2.2
2.0
—
—
—
0
0
8
36
2.41
1.30
1.8
1.5
—
—
—
0
0
20
129
1.84
1.28
3.6
3.7
5.79
12.78
mg/mmol
0.56
13
71
11
57
2.15
1.27
1.6
1.2
—
—
—
0
0
5
19
2.78
1.24
2.0
1.8
—
—
—
0
0
10
51
2.16
1.19
14.8
8.5
2.19
0.91
mmol/l
—
10
41
23
159
1.74
1.16
2.4
3.4
19.27
416.81
e6/l
0.52
17
129
5
21
2.51
1.11
1.2
1.2
—
—
—
0
0
19
126
1.76
1.09
2.9
2.9
41.01
56.08
mg/l
0.24
13
69
10
53
2.07
1.09
14.8
9.3
7.40
7.39
ph
—
5
27
20
135
1.73
1.08
2.5
3.3
—
—
estimate
—
0
0
33
259
1.64
1.00
6.0
8.7
1.81
1.74
e9/l
0.18
28
227
24
174
1.65
0.99
4.8
3.4
31.42
33.95
ng/l
0.05
19
123
10
57
1.91
0.90
1.1
1.6
—
—
—
0
0
20
142
1.62
0.88
2.6
3.2
0.10
0.33
e6/l
0.99
14
111
18
125
1.64
0.86
6.9
6.8
—
—
—
0
0
8
47
1.81
0.85
20.5
11.9
—
—
—
0
0
52
471
2.00
0.82
23.6
15.3
25.51
23.36
mg/l
0.20
45
373
5
25
2.09
0.74
11.8
3.0
36.86
36.86
°c
—
5
25
7
41
1.80
0.73
1.1
1.5
—
—
—
0
0
7
42
1.76
0.71
14.7
9.7
24.47
23.41
mmol/l
—
7
42
52
480
1.80
0.70
25.3
13.9
—
—
—
0
0
25
197
1.47
0.67
2.6
1.9
74.84
93.83
pmol/l
1.20
11
95
18
137
1.46
0.56
3.4
2.7
—
—
—
0
0
28
232
1.40
0.55
15.7
16.0
0.00
0.06
e9/l
0.60
20
195
6
40
1.56
0.53
9.5
6.1
—
—
—
0
0
15
112
1.46
0.51
3.9
4.7
—
—
—
0
0
20
158
1.41
0.51
3.8
3.6
—
—
—
0
0
8
56
1.50
0.45
1.0
1.2
—
—
—
0
0
5
31
1.67
0.44
9.8
7.7
9.10
8.95
kpa
—
5
31
5
32
1.61
0.43
5.6
5.8
7.39
7.35
ph
—
5
21
5
33
1.56
0.42
1.6
1.3
—
—
—
0
0
0
16
0.00
0.42
0.0
1.5
—
1.54
—
0
16
0
16
0.00
0.42
0.0
1.5
—
0.89
—
0
16
25
211
1.32
0.41
3.7
3.8
0.00
0.00
estimate
—
7
50
5
35
1.47
0.40
16.4
11.7
97.04
93.37
%
—
5
35
23
194
1.31
0.38
2.8
3.1
—
—
—
0
0
6
45
1.37
0.35
4.5
4.7
1.27
1.22
mmol/l
—
6
38
7
51
1.42
0.33
1.7
1.4
—
—
—
0
0
18
150
1.29
0.31
3.3
4.4
0.00
0.00
estimate
—
8
54
18
152
1.27
0.28
3.3
3.1
0.00
0.00
estimate
—
7
48
5
37
1.38
0.24
16.4
11.1
1.10
1.72
%
—
5
37
0
11
0.00
0.21
0.0
4.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
11
90
1.27
0.21
1.5
2.0
—
—
—
0
0
13
109
1.25
0.21
3.5
4.5
1.02
1.02
kg/l
—
7
64
6
49
1.25
0.21
3.0
4.4
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
15497.11
—
0
9
7
59
1.21
0.19
1.1
1.5
—
—
—
0
0
16
143
1.16
0.13
6.6
6.4
—
—
—
0
0
44
424
1.16
0.12
5.1
5.0
2.48
1.96
mu/l
1.48
39
387
13
117
1.14
0.09
1.8
2.5
6.95
3.67
e6/l
0.47
13
102
42
407
1.12
0.08
31.0
20.1
14.00
13.63
%
0.47
42
401
0
6
0.00
0.00
0.0
1.3
—
5.10
—
0
6
0
6
0.00
0.00
0.0
20.7
—
712.00
—
0
6
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
12.0
—
7.50
—
0
6
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
6
66
0.90
-0.00
2.2
3.2
3.57
4.12
e9/l
—
6
58
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
4.6
—
340.38
—
0
8
0
7
0.00
-0.00
0.0
2.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
170.86
—
0
7
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint E4_PORBILIRNAS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_PORBILIRNAS.

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_PORBILIRNAS – Disorder of bilirubin metabolism, other/unspecified

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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