obsolete_porphyria: ['A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.']
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. |
429 |
4. Check minimum number of eventsNone |
429 |
5. Include endpoints |
472 |
6. Filter based on genotype QC (FinnGen only) |
431 |
Control definitions (FinnGen only)
- Control exclude
- E4_METABOLIA
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- E70-E90
- Name in latin
- Perturbationes metabolismi porphyrini et bilirubini
Similar endpoints
↥List of similar endpoints to
Disorders of porphyrin and bilirubin metabolism
based on the number of shared cases.
Similar with more cases:
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 3518 | 1459 | 2032 |
| Only index persons | 3166 | 1332 | 1834 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.05 | 0.04 | 0.06 |
| Only index persons | 0.06 | 0.05 | 0.07 |
| Median age at first event (years) | |||
| Whole population | 38.30 | 39.37 | 37.32 |
| Only index persons | 37.26 | 39.00 | 36.00 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 431 | 190 | 241 |
| Unadjusted period prevalence (%) | 0.09 | 0.07 | 0.11 |
| Median age at first event (years) | 45.07 | 42.23 | 47.31 |
-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
- 452
- Matched controls
- 4520
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E80.4
ICD-10 Finland
Gilbert syndrome
8545.0
307.7
273
*
R17
ICD-10 Finland
Hyperbilirubinaemia, with or without jaundice, not elsewhere classified
23.6
55.7
41
19
E80.2
ICD-10 Finland
Other porphyria
+∞
53.2
50
*
E80.7
ICD-10 Finland
Disorder of bilirubin metabolism, unspecified
+∞
43.4
41
*
E80.1
ICD-10 Finland
Porphyria cutanea tarda
+∞
33.8
32
*
E80.0
ICD-10 Finland
Hereditary erythropoietic porphyria
+∞
31.6
30
*
E80.6
ICD-10 Finland
Other disorders of bilirubin metabolism
241.7
22.8
23
*
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
2.6
21.4
197
1033
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.5
17.7
145
708
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
3.4
16.1
64
210
27350
ICD-8 Finland
Other and unspecified congenital disorders of metabolism, Icterus intermittens juvenilis
+∞
15.7
15
*
JL5BG
NOMESCO Finland
MRI examinaiton of bile and pancreas ducts with high intesity magnet
6.6
15.2
25
40
K21.9
ICD-10 Finland
Gastro-oesophageal reflux disease without oesophagitis
3.4
15.0
58
187
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
2.9
14.8
82
326
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
2.9
14.7
80
315
2774A
ICD-9 Finland
Other and unspecified disorders of metabolism, Disorders of bilirubin excretion[SYNDROMA GILBERT]
+∞
14.7
14
*
Z01.8
ICD-10 Finland
Other specified special examinations
2.4
14.0
118
576
57308
ICD-8 Finland
Other diseases of liver, Alii definiti
133.6
12.5
13
*
R10.1
ICD-10 Finland
Pain localized to upper abdomen
2.4
11.9
92
429
E87.1
ICD-10 Finland
Hypo-osmolality and hyponatraemia
17.6
11.3
17
10
Z03.89
ICD-10 Finland
Observation for other suspected diseases and conditions
2.5
11.1
79
354
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
33.4
10.4
13
*
K80.2
ICD-10 Finland
Calculus of gallbladder without cholecystitis
2.8
10.3
57
225
K76.0
ICD-10 Finland
Fatty (change of) liver, not elsewhere classified
5.1
9.9
21
43
JJ1LE
NOMESCO Finland
Ultrasound elastography of liver
11.0
9.9
18
17
A06AC01
ATC
ispaghula (psylla seeds); oral
2.1
9.8
118
658
C10AC01
ATC
colestyramine; oral
4.8
9.4
21
45
UJF32
NOMESCO Finland
Coloscopy
2.0
9.3
116
653
E87.6
ICD-10 Finland
Hypokalaemia
11.0
8.9
16
15
27311
ICD-8 Finland
Other and unspecified congenital disorders of metabolism, Porphyria acuta intermittens
+∞
8.4
8
*
A02BC05
ATC
esomeprazole; systemic
1.8
8.2
172
1143
R10.3
ICD-10 Finland
Pain localized to other parts of lower abdomen
2.0
8.2
102
572
N19
ICD-10 Finland
Unspecified kidney failure
4.8
7.9
18
39
R06AE07
ATC
cetirizine; oral
1.8
7.9
194
1347
GD1AA
NOMESCO Finland
Thorax X-ray examination
1.8
7.9
200
1403
UJF30
NOMESCO Finland
Ileoscopy through colon
2.5
7.8
52
225
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
3.7
7.7
24
67
K21.0
ICD-10 Finland
Gastro-oesophageal reflux disease with oesophagitis
2.5
7.5
48
204
Z04.8
ICD-10 Finland
Examination and observation for other specified reasons
2.2
7.3
66
327
WZC00
NOMESCO Finland
Treatment plan or consultation
1.8
7.2
161
1081
A02BC02
ATC
pantoprazole; systemic
1.7
7.2
285
2241
I49.3
ICD-10 Finland
Ventricular premature depolarization
2.8
7.1
36
136
E0000UV, ,
ATC
1.7
7.0
183
1283
R00.2
ICD-10 Finland
Palpitations
2.6
7.0
40
161
C03DA01
ATC
spironolactone; oral
2.4
6.9
49
218
L17
ICPC
Foot/toe symptom/complaint
1.8
6.7
137
895
R07.4
ICD-10 Finland
Chest pain, unspecified
1.8
6.7
118
738
JKA21
NOMESCO Finland
Laparoscopic cholecystectomy
2.4
6.6
48
217
JJ2AT
NOMESCO Finland
Biopsy of liver with ultrasound guidance
5.8
6.5
17
30
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
3.0
6.5
29
102
R01AD12
ATC
fluticasone furoate; nasal
1.7
6.5
142
944
A02BC01
ATC
omeprazole; systemic
1.8
6.5
111
687
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
2.4
6.5
45
199
C01DA14
ATC
isosorbide mononitrate; oral
2.3
6.4
48
219
NA2AA
NOMESCO Finland
Thoracal spine X-ray examination without contrast
4.2
6.4
17
42
XF402
NOMESCO Finland
ECG with work load test
2.4
6.4
43
187
E83.1
ICD-10 Finland
Disorders of iron metabolism
27.1
6.2
8
*
XLA10, ,
NOMESCO Finland
4.1
6.2
17
43
R63.4
ICD-10 Finland
Abnormal weight loss
3.4
6.2
22
67
J01DB01
ATC
cefalexin; oral
1.8
6.2
362
3104
R11
ICD-10 Finland
Nausea and vomiting
2.4
6.2
43
190
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
2.4
6.1
41
178
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
1.8
6.1
97
585
L14
ICPC
Leg/thigh symptom/complaint
2.4
6.0
40
173
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
192
436
6.92
87.91
4.0
3.1
13.15
8.73
umol/l
1.64
182
384
340
1905
4.17
40.35
9.4
7.0
27.01
12.44
umol/l
27.49
331
1823
68
147
5.27
30.54
1.9
2.2
0.95
1.50
g/l
5.57
57
131
244
1298
2.91
27.51
4.5
3.4
32.57
34.76
u/l
0.50
234
1228
106
350
3.65
27.16
3.5
2.8
0.23
0.21
g/l
1.74
99
332
100
320
3.73
26.83
3.5
2.7
10.39
10.33
g/l
0.05
92
297
138
585
2.96
23.01
3.5
2.3
17.16
13.59
umol/l
5.39
133
549
129
538
2.96
22.05
3.6
2.3
2.36
2.32
g/l
0.43
123
502
384
2781
3.53
22.05
11.7
8.2
80.77
79.42
u/l
0.25
374
2642
254
1495
2.60
21.79
7.1
5.2
37.58
36.25
g/l
3.87
245
1409
105
393
3.18
21.66
4.8
5.4
214.22
255.53
u/l
2.86
98
382
361
2651
2.80
17.67
5.3
3.3
52.36
45.76
u/l
0.81
356
2524
157
807
2.45
17.07
1.7
1.4
1.99
2.38
g/l
2.11
111
498
30
52
6.11
16.87
1.1
1.1
1.45
1.42
g/l
0.15
30
46
30
54
5.88
16.24
1.1
1.4
—
—
—
0
0
364
2735
2.70
16.07
5.4
4.3
9.34
10.22
mm/h
0.59
349
2565
242
1536
2.24
15.69
15.5
12.6
1.27
1.22
inr
0.84
204
1279
37
90
4.39
14.22
1.5
1.7
—
—
—
0
0
159
894
2.20
13.46
1.4
1.3
1.63
1.82
u/ml
0.07
34
234
187
1123
2.13
13.36
3.0
2.4
59.03
68.09
u/l
0.85
177
1049
251
1734
2.01
11.77
9.1
7.2
1.22
1.21
mmol/l
0.59
228
1490
252
1755
1.99
11.41
4.8
2.9
144.57
126.93
ug/l
0.75
243
1635
292
2155
2.00
11.02
12.4
10.7
3.73
3.95
e9/l
1.08
252
1893
225
1537
1.92
10.48
9.4
7.1
1.22
1.21
mmol/l
0.77
217
1417
176
1158
1.85
8.81
3.6
3.1
52.41
108.41
e6/l
0.39
133
898
133
801
1.94
8.73
2.4
1.9
1.40
1.23
mg/l
0.13
86
607
102
562
2.05
8.61
4.6
4.4
0.81
0.83
mmol/l
1.02
96
538
161
1037
1.86
8.57
2.2
2.1
213.15
196.86
u/l
0.14
153
992
74
361
2.26
8.51
2.7
2.7
29.73
33.08
u/l
0.46
63
313
153
987
1.83
8.01
2.9
3.3
1839.95
1075.57
ng/l
0.34
131
822
222
1602
1.76
7.92
3.6
2.4
76.37
74.55
nmol/l
0.50
212
1447
260
1980
1.74
7.52
4.2
3.5
0.00
0.00
estimate
0.50
47
411
262
2000
1.74
7.50
4.2
3.5
0.00
0.77
estimate
0.50
46
389
258
1966
1.73
7.39
4.1
3.5
0.00
0.00
estimate
0.50
47
404
13
12
11.11
7.34
4.2
2.2
170.08
206.58
u/l
1.31
13
12
139
904
1.78
6.92
3.2
2.2
3.21
2.95
mg/l
0.36
124
783
105
635
1.85
6.61
3.0
2.8
0.64
0.98
e6/l
0.73
51
348
171
1193
1.70
6.56
5.6
3.3
2.36
2.35
mmol/l
0.07
160
1084
78
428
1.99
6.56
9.3
6.3
1.08
1.06
mmol/l
0.31
73
399
27
91
3.09
6.50
3.7
4.0
1.30
1.67
ratio
0.61
15
58
149
1009
1.71
6.34
3.7
3.0
0.12
0.34
e6/l
3.13
105
746
45
202
2.36
6.25
1.9
1.8
0.14
0.37
mg/l
3.62
17
84
264
2078
1.65
6.24
6.2
5.3
6.61
6.59
mmol/l
0.06
257
1951
120
779
1.74
5.89
2.9
2.5
3.81
5.16
e6/l
0.78
114
716
48
229
2.23
5.80
9.2
11.9
24.33
24.93
mmol/l
0.63
48
229
137
928
1.68
5.74
3.6
2.8
343.18
344.75
umol/l
0.06
123
827
289
2354
1.63
5.73
6.0
4.2
9.80
1457.79
e6/l
—
5
34
304
2519
1.63
5.51
3.7
3.2
—
—
—
0
0
25
90
2.88
5.39
1.6
1.5
285.80
251.26
ug/g
—
9
52
92
569
1.77
5.30
3.0
3.0
3.94
1.68
e6/l
0.39
37
279
47
232
2.14
5.23
1.4
1.3
103.32
39.05
au/ml
—
6
16
50
253
2.10
5.22
2.7
2.5
20.74
20.50
au/ml
—
5
19
131
896
1.65
5.22
2.6
2.4
—
—
—
0
0
414
3769
2.17
5.14
21.6
13.7
19.49
23.68
mg/l
2.52
350
3002
331
2833
1.63
4.96
4.4
3.9
14.96
14.72
pmol/l
1.05
310
2609
88
552
1.74
4.80
2.0
1.9
1.62
1.43
%
0.92
73
493
383
3416
1.79
4.80
5.5
4.8
1.97
1.89
mu/l
0.61
363
3159
141
1009
1.58
4.59
2.0
1.6
18.36
20.22
nmol/l
0.93
125
847
59
334
1.88
4.50
3.6
4.9
2.91
38.77
ug/l
0.87
40
276
46
239
2.03
4.49
1.8
1.6
—
—
—
0
0
85
540
1.71
4.42
1.8
1.7
1032.16
1212.91
nmol/l
0.89
70
414
397
3607
1.83
4.29
19.1
12.8
83.51
85.39
ml/min/173m2
0.96
370
3320
198
1544
1.50
4.28
2.6
2.0
95.55
97.79
pmol/l
0.34
123
839
9
14
6.53
4.00
1.9
1.1
9.44
7.98
ug/l
—
9
14
85
559
1.64
3.86
2.2
1.9
—
—
—
0
0
22
89
2.55
3.86
1.5
1.6
146.87
143.75
au/ml
—
8
26
14
44
3.25
3.80
1.2
1.1
—
305.00
—
0
6
96
655
1.59
3.75
4.0
2.9
2.44
2.44
mmol/l
0.17
88
597
58
347
1.77
3.72
6.0
4.0
2.35
1.79
mmol/l
0.43
51
296
23
97
2.44
3.71
1.5
1.6
—
—
—
0
0
10
20
5.09
3.70
7.9
1.5
1.85
2.16
umol/l
—
10
15
17
62
2.81
3.63
1.0
1.5
—
234.29
—
0
7
13
35
3.79
3.62
1.2
1.2
—
—
—
0
0
73
470
1.66
3.60
7.4
8.4
103.55
104.69
mmol/l
0.99
73
470
12
31
3.95
3.51
1.8
2.5
—
—
—
0
0
65
409
1.69
3.49
2.2
1.7
—
—
—
0
0
37
196
1.97
3.46
1.8
1.7
—
—
—
0
0
109
788
1.51
3.26
1.7
1.7
—
—
—
0
0
24
110
2.25
3.25
1.5
1.4
226.54
252.47
u/ml
0.19
13
66
(40770918) von Willebrand factor (vWf).activity actual/normal in Platelet poor plasma by Immunoassay
8
15
5.41
3.20
1.1
1.3
160.00
163.80
%
—
8
15
39
217
1.87
3.17
5.1
4.4
2.15
1.64
mmol/l
0.37
28
178
15
56
2.74
3.09
1.3
1.4
—
—
—
0
0
26
127
2.11
3.03
1.8
1.6
9.14
7.46
u/ml
—
8
30
387
3568
1.59
3.01
5.5
4.6
5.74
5.86
mmol/l
1.51
372
3274
10
26
3.91
2.99
1.0
1.0
—
—
—
0
0
7
13
5.45
2.88
1.9
1.2
—
—
—
0
0
165
1319
1.40
2.85
4.4
3.1
21.16
78.18
ng/l
0.67
109
883
92
663
1.49
2.78
1.4
1.3
3.83
11.13
u/ml
1.49
32
247
94
681
1.48
2.76
1.8
1.7
392.48
20454962.34
pmol/l
0.50
77
572
60
395
1.60
2.72
2.3
1.8
—
—
—
0
0
12
40
3.05
2.71
1.1
1.1
—
—
—
0
0
8
19
4.27
2.69
2.3
3.3
108.75
136.84
nmol/l
—
8
19
11
35
3.20
2.66
2.6
3.2
1.68
2.64
nmol/l
1.19
11
35
30
163
1.90
2.64
2.5
2.9
1.02
1.02
ratio
0.37
25
156
21
100
2.15
2.63
1.3
1.2
—
—
—
0
0
10
30
3.38
2.61
5.5
3.8
89.30
92.40
%
—
10
30
24
121
2.04
2.60
1.3
1.2
—
1.18
—
0
5
28
151
1.91
2.53
1.4
1.4
—
—
—
0
0
10
31
3.27
2.53
1.1
1.1
—
—
—
0
0
201
1685
1.35
2.50
3.5
2.8
—
—
estimate
—
0
0
54
355
1.59
2.47
9.3
11.6
0.68
0.80
mmol/l
0.09
46
297
10
32
3.17
2.45
1.1
1.1
—
—
—
0
0
10
32
3.17
2.45
1.1
1.1
—
—
—
0
0
11
38
2.94
2.43
1.4
1.3
70.30
48.65
u/l
0.74
11
33
19
90
2.16
2.42
2.3
2.9
1.80
2.42
index
—
10
57
116
897
1.39
2.38
4.3
3.4
1.02
1.02
kg/l
0.83
70
577
10
33
3.08
2.37
1.1
1.1
—
—
—
0
0
394
3693
1.52
2.33
5.2
4.5
1.42
1.43
mmol/l
0.21
382
3437
395
3705
1.52
2.32
5.3
4.6
4.42
4.63
mmol/l
3.83
389
3470
378
3515
1.46
2.32
4.5
3.9
1.23
1.26
mmol/l
0.40
367
3252
9
30
3.04
2.16
1.1
1.1
—
—
—
0
0
86
643
1.42
2.13
3.5
3.5
56.82
376.35
ng/l
3.70
66
458
14
62
2.30
2.09
3.9
3.3
17.39
16.58
%
0.39
14
62
19
96
2.02
2.08
1.5
1.8
—
—
—
0
0
5
11
4.58
1.94
2.2
4.2
3.20
6.81
ug/l
—
5
11
180
1527
1.30
1.94
4.0
3.3
11.90
0.03
estimate
0.49
42
347
20
106
1.93
1.94
2.6
1.8
—
—
—
0
0
93
719
1.37
1.90
1.4
1.3
15.86
34.91
iu/ml
2.52
19
201
18
93
1.97
1.87
2.0
1.3
22.77
18.57
e6/l
0.09
13
75
32
199
1.65
1.86
5.0
3.3
0.59
0.61
%
0.12
32
199
432
4172
1.80
1.83
33.3
21.0
4.58
4.58
e12/l
0.08
426
4086
18
94
1.95
1.82
2.0
1.4
457.62
1246.20
e6/l
0.30
13
79
395
3743
1.44
1.81
5.9
5.1
2.60
2.76
mmol/l
3.11
384
3488
11
47
2.37
1.79
3.7
2.1
—
—
—
0
0
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
17
88
1.97
1.77
6.7
3.8
0.35
0.30
iu/ml
—
10
43
23
133
1.77
1.73
2.0
1.7
—
—
—
0
0
17
89
1.95
1.72
1.2
1.2
—
—
—
0
0
147
1231
1.29
1.71
3.5
3.2
7.72
8.40
mmol/l
1.00
129
1036
29
180
1.65
1.71
1.8
1.5
35.81
22.27
iu/l
0.77
23
155
28
173
1.66
1.68
1.4
2.2
5.07
6.42
iu/ml
—
6
44
22
127
1.77
1.67
1.7
2.0
—
—
—
0
0
42
287
1.51
1.67
3.0
2.7
59.44
71.94
ml/min/173m2
1.22
18
109
179
1541
1.27
1.66
1.9
1.9
1.37
1.35
mmol/l
0.10
146
1316
6
19
3.19
1.66
1.2
1.4
—
—
—
0
0
6
19
3.19
1.66
4.5
3.9
0.50
1.16
%
—
6
19
8
31
2.61
1.66
1.1
1.1
—
—
—
0
0
18
98
1.87
1.64
2.7
1.7
—
—
—
0
0
5
14
3.60
1.62
1.0
2.4
65.20
126.85
ng/l
—
5
14
5
14
3.60
1.62
4.8
2.9
—
—
—
0
0
6
20
3.03
1.58
3.2
1.4
—
—
—
0
0
11
52
2.14
1.45
3.7
2.0
—
—
—
0
0
14
73
1.95
1.45
2.6
1.8
—
—
—
0
0
132
1114
1.26
1.42
3.2
2.9
6.76
0.09
estimate
0.48
37
328
36
248
1.49
1.40
1.4
1.2
49.17
120.54
u/ml
1.48
12
106
6
23
2.63
1.37
3.7
1.6
—
—
—
0
0
15
83
1.83
1.33
2.2
1.5
—
—
—
0
0
21
129
1.66
1.32
2.8
3.0
—
—
—
0
0
57
433
1.36
1.32
2.7
2.3
16.07
14.37
nmol/l
1.02
49
402
6
24
2.52
1.31
1.2
1.6
—
—
—
0
0
6
24
2.52
1.31
1.0
2.0
—
1020533.17
—
0
6
6
24
2.52
1.31
1.2
1.6
—
—
—
0
0
60
462
1.34
1.28
4.5
4.3
35.15
31.77
%
1.27
48
300
8
35
2.31
1.27
1.0
1.1
—
—
—
0
0
12
64
1.90
1.19
1.8
1.3
6.71
1.86
u/ml
—
7
22
129
1107
1.23
1.18
4.3
3.8
3.46
7.78
mg/mmol
2.06
86
671
19
118
1.64
1.16
2.3
1.8
—
—
—
0
0
11
58
1.92
1.13
1.0
1.0
—
—
—
0
0
11
58
1.92
1.13
7.1
3.8
4.89
4.94
kpa
0.10
11
58
10
52
1.94
1.07
2.3
1.5
—
—
—
0
0
129
1121
1.21
1.04
3.9
3.5
0.00
0.01
estimate
0.80
42
383
7
34
2.08
1.03
2.3
1.8
—
—
—
0
0
7
34
2.08
1.03
2.3
1.8
—
—
—
0
0
7
34
2.08
1.03
2.3
1.8
—
—
—
0
0
12
68
1.79
1.01
1.8
1.6
—
—
—
0
0
12
68
1.79
1.01
2.5
1.5
—
—
—
0
0
156
1385
1.19
1.00
5.7
5.0
2.23
2.31
ug/l
0.07
141
1246
27
190
1.45
0.99
1.1
1.0
—
—
—
0
0
11
61
1.82
0.99
10.1
6.6
10.43
10.92
mg/l
0.17
11
56
100
860
1.21
0.90
3.1
3.1
0.87
0.73
ug/l
0.58
61
532
127
1118
1.19
0.89
4.3
4.3
23.54
21.65
%
0.62
58
531
10
56
1.80
0.88
1.2
1.3
—
—
—
0
0
8
43
1.88
0.87
2.8
1.9
—
—
—
0
0
66
545
1.25
0.87
2.2
2.2
—
—
—
0
0
11
64
1.74
0.87
7.5
3.0
8.09
5.66
pmol/l
0.55
11
64
20
138
1.47
0.83
1.6
1.9
225.95
220.54
pmol/l
0.07
20
133
6
32
1.89
0.82
1.2
1.2
—
—
—
0
0
8
47
1.71
0.81
1.9
1.6
—
—
—
0
0
363
3494
1.20
0.79
6.5
5.5
37.33
38.35
mmol/mol
1.60
351
3288
6
33
1.83
0.79
1.2
1.1
153.67
110.58
pmol/l
—
6
33
10
59
1.71
0.76
1.1
1.2
—
—
—
0
0
9
54
1.68
0.75
2.0
1.7
—
—
—
0
0
5
24
2.10
0.74
1.4
1.3
72.80
78.83
umol/l
—
5
24
5
24
2.10
0.74
1.0
1.3
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
5
25
2.01
0.73
1.0
1.3
—
—
—
0
0
9
56
1.62
0.72
2.9
1.5
—
—
—
0
0
9
57
1.59
0.71
1.1
1.2
—
—
—
0
0
17
118
1.46
0.70
1.2
1.1
3.76
5.59
—
5
16
10
62
1.63
0.65
1.1
1.2
—
—
—
0
0
6
35
1.72
0.58
1.2
1.3
—
—
—
0
0
12
81
1.49
0.57
2.0
1.6
72.08
248.80
pmol/l
0.72
12
81
58
499
1.19
0.55
2.1
2.1
—
—
—
0
0
6
38
1.59
0.54
3.3
1.2
244.00
189.44
pmol/l
—
6
38
6
40
1.51
0.51
27.2
3.5
—
—
—
0
0
17
127
1.35
0.50
1.6
1.2
—
—
—
0
0
10
67
1.50
0.50
1.1
1.3
—
—
—
0
0
10
67
1.50
0.50
1.1
1.3
—
—
—
0
0
12
164
0.72
0.46
1.9
1.8
—
—
—
0
0
7
50
1.41
0.45
3.0
1.3
—
—
—
0
0
7
50
1.41
0.45
3.0
1.3
—
—
—
0
0
7
50
1.41
0.45
3.0
1.3
—
—
—
0
0
12
86
1.41
0.45
1.4
1.2
—
—
—
0
0
7
51
1.38
0.44
3.0
1.3
—
—
—
0
0
11
78
1.42
0.43
1.2
1.1
28.98
17.14
au/ml
—
5
24
41
352
1.18
0.42
5.5
3.2
—
—
—
0
0
37
432
0.84
0.41
8.5
5.7
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
23
186
1.25
0.41
1.3
1.4
—
—
—
0
0
0
16
0.00
0.41
0.0
1.0
—
—
—
0
0
5
34
1.48
0.40
3.8
1.1
—
—
—
0
0
5
34
1.48
0.40
3.8
1.1
—
—
—
0
0
16
203
0.78
0.38
1.1
1.3
—
—
—
0
0
5
36
1.39
0.38
1.2
1.7
—
—
—
0
0
19
152
1.26
0.37
1.9
1.7
1.94
3.41
mg/l
0.87
14
110
5
37
1.36
0.37
1.8
1.6
—
—
—
0
0
22
182
1.22
0.33
4.7
3.0
49.75
48.13
%
0.10
22
177
6
87
0.69
0.33
1.2
1.7
—
—
—
0
0
15
187
0.80
0.32
1.4
1.6
1006.51
938.41
mu/l
—
8
158
12
92
1.31
0.32
4.8
1.5
—
—
—
0
0
7
52
1.35
0.31
3.0
1.3
—
—
—
0
0
7
52
1.35
0.31
3.0
1.3
—
—
—
0
0
22
187
1.19
0.27
2.4
1.9
38.73
40.49
nmol/l
0.15
22
182
5
39
1.29
0.23
1.2
1.9
—
—
—
0
0
5
39
1.29
0.23
1.0
1.1
—
—
—
0
0
5
39
1.29
0.23
1.0
2.7
15.94
24.67
nmol/l
—
5
34
0
10
0.00
0.21
0.0
1.8
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
48.48
—
0
12
0
14
0.00
0.20
0.0
1.0
—
—
—
0
0
51
472
1.09
0.20
2.2
2.0
3.42
3.58
ratio
0.39
37
372
6
52
1.16
0.19
2.2
1.6
12.83
13.15
%
—
6
52
33
360
0.91
0.17
2.3
1.7
3.34
3.51
mmol/l
0.41
20
261
33
302
1.10
0.16
2.1
1.5
—
—
—
0
0
11
92
1.20
0.16
1.5
1.4
—
—
—
0
0
6
76
0.79
0.15
1.7
1.8
—
—
—
0
0
12
102
1.18
0.15
2.2
1.2
—
—
—
0
0
9
82
1.10
0.15
1.4
1.5
—
—
—
0
0
52
490
1.07
0.14
1.6
1.5
—
—
—
0
0
23
249
0.92
0.10
2.3
2.1
—
—
—
0
0
16
149
1.08
0.05
1.1
1.4
203.46
254.25
miu/ml
—
7
75
30
290
1.04
0.03
2.2
2.2
—
—
—
0
0
13
138
0.94
0.02
3.5
1.9
11016.62
5917.75
u/l
—
6
45
12
113
1.06
0.02
1.0
1.1
—
—
—
0
0
12
113
1.06
0.02
1.0
1.1
—
—
—
0
0
15
157
0.95
0.01
1.0
1.1
1.49
1.53
g/l
0.27
15
157
10
102
0.98
0.00
1.6
1.4
—
—
—
0
0
16
162
0.99
0.00
1.1
1.2
0.85
0.93
g/l
1.05
16
162
7
78
0.90
0.00
1.0
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
0.01
—
0
6
0
5
0.00
-0.00
0.0
3.2
—
1.42
—
0
5
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
11
110
1.00
-0.00
1.5
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint E4_PORBILIR and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_PORBILIR | 1.937 [1.55, 2.43] | < 0.001 |
| Birth year | 0.994 [0.99, 1.0] | 0.166 |
During the follow-up period (1.1.1998 — 31.12.2019), 140 out of 1058 females with E4_PORBILIR died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_PORBILIR | 1.442 [1.18, 1.76] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.113 |
During the follow-up period (1.1.1998 — 31.12.2019), 232 out of 1474 males with E4_PORBILIR died.
Mortality risk
Mortality risk for people of age
years, who have E4_PORBILIR.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.134% | 0.283% |
| 5 | 1.176% | 1.95% |
| 10 | 2.932% | 4.595% |
| 15 | 5.514% | 8.699% |
| 20 | 9.052% | 14.938% |
Relationships between endpoints
↥Index endpoint: E4_PORBILIR – Disorders of porphyrin and bilirubin metabolism
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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