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 |
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. |
399 |
4. Check minimum number of eventsNone |
399 |
5. Include endpoints |
436 |
6. Filter based on genotype QC (FinnGen only) |
419 |
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 | 419 | 183 | 236 |
| Unadjusted period prevalence (%) | 0.09 | 0.06 | 0.11 |
| Median age at first event (years) | 44.84 | 42.41 | 46.73 |
-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
- 436
- Matched controls
- 4360
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E80.4
ICD-10 Finland
Gilbert syndrome
+∞
309.6
259
*
R17
ICD-10 Finland
Hyperbilirubinaemia, with or without jaundice, not elsewhere classified
26.7
55.5
39
16
E80.2
ICD-10 Finland
Other porphyria
+∞
52.1
49
*
E80.7
ICD-10 Finland
Disorder of bilirubin metabolism, unspecified
+∞
42.4
40
*
E80.1
ICD-10 Finland
Porphyria cutanea tarda
+∞
32.7
31
*
E80.0
ICD-10 Finland
Hereditary erythropoietic porphyria
+∞
31.6
30
*
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
2.7
22.5
189
958
E80.6
ICD-10 Finland
Other disorders of bilirubin metabolism
231.1
21.8
22
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.6
18.4
140
664
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.1
16.3
78
287
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
7.1
15.0
23
34
2774A
ICD-9 Finland
Other and unspecified disorders of metabolism, Disorders of bilirubin excretion[SYNDROMA GILBERT]
+∞
14.7
14
*
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
3.3
14.1
57
189
Z01.8
ICD-10 Finland
Other specified special examinations
2.4
12.6
109
538
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
2.8
12.0
65
255
K21.9
ICD-10 Finland
Gastro-oesophageal reflux disease without oesophagitis
3.1
11.5
52
184
R10.1
ICD-10 Finland
Pain localized to upper abdomen
2.4
10.8
83
386
57308
ICD-8 Finland
Other diseases of liver, Alii definiti
61.5
10.7
12
*
E87.6
ICD-10 Finland
Hypokalaemia
13.8
9.7
16
12
GD1AA
NOMESCO Finland
Thorax X-ray examination
1.9
9.6
187
1232
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
30.8
9.4
12
*
Z03.89
ICD-10 Finland
Observation for other suspected diseases and conditions
2.4
9.3
71
328
A06AC01
ATC
ispaghula (psylla seeds); oral
2.1
9.2
111
618
K80.2
ICD-10 Finland
Calculus of gallbladder without cholecystitis
2.7
9.1
53
215
C10AC01
ATC
colestyramine; oral
5.0
8.9
19
39
R06AE07
ATC
cetirizine; oral
1.8
8.7
188
1269
UJF32
NOMESCO Finland
Coloscopy
2.0
8.7
109
615
27311
ICD-8 Finland
Other and unspecified congenital disorders of metabolism, Porphyria acuta intermittens
+∞
8.4
8
*
JJ1LE
NOMESCO Finland
Ultrasound elastography of liver
11.0
8.4
15
14
UJF30
NOMESCO Finland
Ileoscopy through colon
2.6
8.2
49
201
K76.0
ICD-10 Finland
Fatty (change of) liver, not elsewhere classified
4.9
8.2
18
38
E87.1
ICD-10 Finland
Hypo-osmolality and hyponatraemia
12.0
8.1
14
12
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
4.0
8.1
23
60
A02BC05
ATC
esomeprazole; systemic
1.8
7.8
165
1098
A02BC02
ATC
pantoprazole; systemic
1.8
7.7
272
2101
R10.3
ICD-10 Finland
Pain localized to other parts of lower abdomen
2.0
7.6
92
510
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
3.3
7.5
28
88
R00.2
ICD-10 Finland
Palpitations
2.8
7.5
37
138
R63.4
ICD-10 Finland
Abnormal weight loss
3.9
7.4
22
59
K21.0
ICD-10 Finland
Gastro-oesophageal reflux disease with oesophagitis
2.5
7.4
46
193
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
2.6
7.1
41
166
JKA21
NOMESCO Finland
Laparoscopic cholecystectomy
2.5
7.0
47
204
I49.3
ICD-10 Finland
Ventricular premature depolarization
2.8
6.9
34
126
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
3.6
6.9
23
67
R01AD12
ATC
fluticasone furoate; nasal
1.8
6.9
136
882
A02BC01
ATC
omeprazole; systemic
1.9
6.8
108
655
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
1.9
6.8
94
545
E83.1
ICD-10 Finland
Disorders of iron metabolism
40.7
6.8
8
*
JJ2AT
NOMESCO Finland
Biopsy of liver with ultrasound guidance
5.9
6.5
17
30
R53
ICD-10 Finland
Malaise and fatigue
1.9
6.5
99
591
E0000UV, ,
ATC
1.7
6.5
171
1200
R07.4
ICD-10 Finland
Chest pain, unspecified
1.8
6.4
110
681
XLA10, ,
NOMESCO Finland
4.2
6.4
17
42
N19
ICD-10 Finland
Unspecified kidney failure
5.7
6.4
17
31
XF402
NOMESCO Finland
ECG with work load test
2.4
6.3
42
182
Z04.8
ICD-10 Finland
Examination and observation for other specified reasons
2.1
6.2
59
299
J01DB01
ATC
cefalexin; oral
1.8
6.1
347
2963
NA2AA
NOMESCO Finland
Thoracal spine X-ray examination without contrast
5.3
6.1
17
33
C03DA01
ATC
spironolactone; oral
2.3
6.1
45
205
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
160
376
6.14
69.07
3.9
3.0
12.22
8.63
umol/l
1.07
151
327
307
1671
3.83
37.49
8.3
6.3
27.71
12.30
umol/l
18.35
298
1592
216
1111
2.87
25.76
4.3
3.2
33.47
33.16
u/l
0.05
204
1057
56
120
5.21
25.31
1.9
2.2
0.86
1.49
g/l
6.35
49
102
89
288
3.63
23.35
3.4
2.6
0.24
0.22
g/l
1.19
82
271
85
268
3.70
23.17
3.3
2.5
10.49
10.11
g/l
0.40
79
247
354
2516
3.16
20.62
10.2
7.2
79.39
77.95
u/l
0.27
341
2363
89
328
3.15
18.72
5.0
5.0
212.82
249.27
u/l
2.46
83
316
216
1258
2.42
18.15
6.4
4.7
37.53
36.28
g/l
3.21
207
1183
327
2366
2.53
15.87
4.8
3.0
50.53
44.97
u/l
0.75
321
2236
219
1343
2.27
15.62
14.9
12.6
1.21
1.25
inr
0.33
59
397
248
1636
2.20
14.35
7.6
6.3
29.40
28.71
%
0.46
237
1549
245
1610
2.19
14.29
7.1
6.1
55.82
56.33
%
0.27
233
1525
34
79
4.58
13.84
1.4
1.6
—
—
—
0
0
24
41
6.14
13.67
1.0
1.0
1.43
1.38
g/l
0.26
24
36
229
1490
2.13
13.41
7.8
6.5
1.22
1.22
mmol/l
0.03
203
1279
218
1397
2.12
13.24
4.2
2.6
156.03
132.08
ug/l
0.87
209
1285
23
40
6.01
12.86
1.1
1.4
—
—
—
0
0
165
979
2.10
12.00
2.9
2.3
59.34
65.12
u/l
0.53
155
911
324
2469
2.22
11.87
4.9
4.0
9.86
10.39
mm/h
0.27
309
2286
265
1914
1.98
10.68
11.1
9.6
3.82
3.97
e9/l
0.50
233
1684
204
1351
1.96
10.59
7.9
6.3
1.22
1.22
mmol/l
1.31
195
1240
190
1252
1.92
9.80
3.2
2.2
77.12
74.14
nmol/l
0.83
180
1131
130
756
2.03
9.63
1.3
1.3
1.80
1.85
u/ml
0.01
28
198
119
686
2.01
8.95
2.3
1.9
1.15
1.12
mg/l
0.05
75
516
87
458
2.12
8.30
3.9
4.4
0.82
0.83
mmol/l
0.52
81
437
140
883
1.86
7.93
2.1
2.0
217.43
197.97
u/l
0.14
131
838
121
741
1.88
7.45
2.9
2.1
3.36
3.15
mg/l
0.24
106
643
69
350
2.15
7.20
9.2
6.4
1.08
1.07
mmol/l
0.15
64
328
395
3499
2.37
6.71
18.0
11.8
17.72
23.33
mg/l
4.21
317
2650
235
1831
1.61
5.66
5.4
4.8
6.56
6.60
mmol/l
0.11
225
1699
59
312
2.03
5.49
2.6
2.5
29.37
33.21
u/l
0.44
49
272
123
824
1.69
5.36
2.5
3.1
2167.99
1041.21
ng/l
0.41
103
691
84
508
1.81
5.23
1.8
1.6
1035.94
1203.03
nmol/l
0.78
69
393
300
2509
1.63
5.17
4.0
3.5
14.91
14.71
pmol/l
0.72
279
2289
288
2388
1.61
5.11
3.5
3.1
—
—
—
0
0
21
72
3.01
4.94
1.5
1.5
315.74
276.01
ug/g
—
7
41
10
13
7.84
4.87
2.0
2.5
34390.00
41146.15
ug/l
—
10
13
143
1017
1.60
4.86
5.3
3.1
2.35
2.36
mmol/l
0.11
128
901
115
775
1.66
4.85
2.4
2.3
—
—
—
0
0
9
10
9.16
4.80
1.6
2.2
172.67
219.40
u/l
—
9
10
350
3070
1.71
4.74
4.8
4.2
1.96
1.89
mu/l
0.50
327
2816
390
3533
1.98
4.72
20.1
13.4
3.94
3.97
mmol/l
1.34
384
3429
53
286
1.97
4.67
3.1
4.5
3.15
43.16
ug/l
0.84
34
240
119
821
1.62
4.54
3.5
2.7
348.39
5343.10
umol/l
2.71
106
721
79
498
1.72
4.24
2.0
1.9
1.56
1.41
%
0.84
65
451
9
13
7.04
4.18
1.7
1.2
9.10
7.86
ug/l
—
9
13
153
1149
1.51
3.94
4.0
3.0
22.04
34.43
ng/l
1.20
101
742
159
1204
1.50
3.93
2.4
1.9
94.39
97.39
pmol/l
0.42
98
657
21
84
2.58
3.77
1.4
1.6
—
—
—
0
0
14
46
3.11
3.56
1.3
1.3
—
—
—
0
0
79
523
1.62
3.50
4.2
2.9
2.43
2.44
mmol/l
0.43
71
468
22
94
2.41
3.47
1.4
1.3
—
—
—
0
0
25
115
2.25
3.35
1.2
1.8
—
266.67
—
0
6
81
546
1.59
3.33
2.8
2.6
0.74
0.91
e6/l
0.27
43
325
120
884
1.49
3.31
3.6
2.9
0.11
0.38
e6/l
3.40
97
670
361
3283
1.58
3.23
15.5
10.7
83.43
85.30
ml/min/173m2
0.83
317
2702
46
269
1.79
3.20
6.3
3.9
2.87
2.06
mmol/l
0.55
38
217
8
15
5.41
3.20
1.0
1.0
—
—
—
0
0
21
92
2.35
3.15
1.4
1.4
224.18
260.22
u/ml
0.24
11
58
84
580
1.56
3.12
1.8
1.7
402.94
416.60
pmol/l
0.18
67
490
95
675
1.52
3.10
1.7
1.6
—
—
—
0
0
148
1149
1.44
3.09
3.8
2.9
—
—
—
0
0
197
1615
1.40
3.00
4.1
3.2
0.00
0.00
estimate
-0.00
36
329
199
1636
1.40
2.97
4.2
3.3
0.00
0.00
estimate
-0.00
36
307
197
1617
1.40
2.97
6.1
4.4
0.00
0.00
estimate
0.50
36
313
10
27
3.77
2.89
1.7
2.5
—
—
—
0
0
35
196
1.85
2.81
1.9
1.5
—
—
—
0
0
11
34
3.29
2.74
2.3
2.7
1.87
2.72
nmol/l
0.93
11
34
36
207
1.81
2.67
5.0
4.3
2.16
1.58
mmol/l
0.44
25
170
369
3411
1.53
2.65
4.5
4.0
4.47
4.67
mmol/l
3.16
360
3172
21
100
2.16
2.63
1.2
1.2
—
1.22
—
0
5
359
3306
1.49
2.56
4.8
4.0
5.75
5.87
mmol/l
1.29
343
3022
96
712
1.45
2.51
1.7
1.5
17.36
21.18
nmol/l
2.05
84
613
7
16
4.43
2.48
2.1
2.9
113.71
56.94
nmol/l
—
7
16
356
3282
1.46
2.44
4.1
3.6
1.24
1.27
mmol/l
0.41
343
3031
366
3397
1.48
2.37
4.5
3.9
1.43
1.44
mmol/l
0.21
353
3145
180
1499
1.34
2.33
3.0
2.5
—
—
—
0
0
23
120
1.97
2.30
1.4
1.3
—
—
—
0
0
21
106
2.03
2.29
3.5
2.2
—
—
—
0
0
(40770918) von Willebrand factor (vWf).activity actual/normal in Platelet poor plasma by Immunoassay
6
13
4.66
2.28
1.0
1.2
139.50
150.77
%
—
6
13
76
551
1.46
2.23
1.3
1.3
2.26
9.84
u/ml
1.99
22
211
17
80
2.17
2.21
1.3
1.2
—
—
—
0
0
414
3970
1.85
2.13
27.7
17.5
4.58
4.59
e12/l
0.17
408
3855
66
470
1.48
2.13
2.1
1.8
—
—
—
0
0
8
25
3.24
2.10
5.9
4.0
85.38
90.96
%
—
8
25
22
117
1.93
2.10
1.7
2.0
—
—
—
0
0
69
497
1.46
2.10
2.9
2.8
4.05
1.60
e6/l
0.38
33
277
31
185
1.73
2.07
11.5
9.1
24.19
24.83
mmol/l
0.55
31
185
78
577
1.43
2.06
1.3
1.3
25.99
35.31
iu/ml
0.33
16
177
8
26
3.11
2.02
1.1
1.1
—
—
—
0
0
8
26
3.11
2.02
1.1
1.1
—
—
—
0
0
413
3966
1.78
1.99
28.0
17.7
41.02
42.19
%
0.46
396
3731
5
11
4.58
1.94
4.8
2.9
—
—
—
0
0
8
27
3.00
1.94
1.1
1.1
—
—
—
0
0
8
27
3.00
1.94
1.1
1.1
—
—
—
0
0
8
27
3.00
1.94
1.1
1.1
—
—
—
0
0
368
3456
1.42
1.88
5.0
4.3
2.64
2.81
mmol/l
2.84
354
3192
22
122
1.85
1.88
1.3
2.2
—
—
—
0
0
5
12
4.20
1.83
3.6
2.7
—
—
—
0
0
152
1274
1.30
1.79
4.1
3.3
—
—
—
0
0
8
30
2.70
1.73
1.3
1.2
—
—
—
0
0
8
30
2.70
1.73
1.0
1.1
—
—
—
0
0
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
15
76
2.01
1.66
6.5
3.8
0.33
0.29
u/ml
—
9
38
19
107
1.81
1.57
2.3
1.8
—
—
—
0
0
16
85
1.92
1.57
1.3
1.6
—
—
—
0
0
12
57
2.14
1.56
1.8
1.2
7.57
1.86
u/ml
—
7
21
56
412
1.41
1.55
4.3
3.9
35.21
31.70
%
1.29
47
283
10
45
2.25
1.47
3.7
2.0
—
—
—
0
0
5
16
3.15
1.44
3.6
1.2
—
—
—
0
0
6
22
2.75
1.44
3.7
1.5
—
—
—
0
0
26
165
1.61
1.44
1.8
1.6
—
—
—
0
0
50
366
1.41
1.43
8.4
7.3
103.94
104.53
mmol/l
0.31
50
366
5
17
2.96
1.36
2.0
1.4
—
—
—
0
0
18
107
1.71
1.28
2.3
1.6
—
—
—
0
0
13
70
1.88
1.25
4.8
3.9
54.62
55.69
%
0.10
13
70
9
45
2.02
1.24
3.7
2.2
—
—
—
0
0
11
56
1.99
1.23
7.1
3.3
4.89
4.92
kpa
0.05
11
56
101
841
1.26
1.22
1.6
1.6
1.36
1.37
mmol/l
0.06
81
712
5
19
2.65
1.22
2.0
3.9
—
—
—
0
0
6
26
2.33
1.19
1.0
1.1
—
—
—
0
0
10
50
2.02
1.17
3.7
1.9
—
—
—
0
0
89
734
1.27
1.17
4.7
3.3
1.02
1.02
kg/l
0.73
27
104
36
259
1.43
1.16
2.4
2.6
56.46
71.84
ml/min/173m2
1.42
13
92
5
20
2.52
1.15
1.2
1.6
—
—
—
0
0
5
20
2.52
1.15
1.2
1.6
—
—
—
0
0
7
31
2.28
1.11
2.3
1.9
—
—
—
0
0
7
31
2.28
1.11
2.3
1.9
—
—
—
0
0
7
31
2.28
1.11
2.3
1.9
—
—
—
0
0
40
299
1.37
1.05
7.9
10.7
0.92
1.03
mmol/l
0.06
32
240
43
326
1.35
1.04
2.1
1.7
—
—
—
0
0
7
34
2.08
1.03
1.6
1.1
—
—
—
0
0
9
47
1.93
1.02
1.0
1.0
—
—
—
0
0
10
53
1.91
1.02
1.1
1.1
—
—
—
0
0
12
68
1.79
1.01
3.8
3.4
3.53
4.02
e9/l
0.23
12
68
21
140
1.53
0.99
6.1
3.0
0.63
0.65
%
0.11
21
140
11
61
1.82
0.99
2.7
1.9
—
—
—
0
0
11
61
1.82
0.99
2.7
1.9
—
—
—
0
0
101
862
1.22
0.98
4.0
3.6
2.98
7.28
mg/mmol
1.91
68
535
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
5
23
2.19
0.98
1.0
1.3
—
—
—
0
0
5
23
2.19
0.98
1.4
1.3
72.80
79.13
umol/l
—
5
23
7
36
1.96
0.97
1.4
1.5
—
—
—
0
0
43
330
1.34
0.97
2.2
1.7
—
—
—
0
0
9
51
1.78
0.95
1.1
1.2
—
—
—
0
0
12
70
1.73
0.93
2.9
1.7
—
—
—
0
0
68
563
1.25
0.88
3.6
3.4
69.68
351.92
ng/l
3.00
52
402
8
45
1.79
0.84
1.1
1.3
—
—
—
0
0
140
1252
1.17
0.82
5.1
4.5
2.23
2.36
ug/l
0.12
127
1130
16
106
1.53
0.80
2.9
3.2
—
—
—
0
0
8
48
1.68
0.79
10.0
6.9
9.82
10.87
mg/l
—
8
43
29
218
1.35
0.77
1.5
1.2
58.78
124.42
iu/ml
—
9
95
9
53
1.71
0.76
1.1
1.2
—
—
—
0
0
10
60
1.68
0.72
1.1
1.3
—
—
—
0
0
10
60
1.68
0.72
1.1
1.3
—
—
—
0
0
12
76
1.60
0.72
1.3
1.3
—
—
—
0
0
11
68
1.63
0.72
2.0
1.4
71.09
227.19
pmol/l
0.51
11
68
7
42
1.68
0.68
1.7
1.5
—
—
—
0
0
5
28
1.79
0.66
1.2
1.3
—
—
—
0
0
5
28
1.79
0.66
3.8
1.0
—
—
—
0
0
5
28
1.79
0.66
3.8
1.0
—
—
—
0
0
7
44
1.60
0.65
1.1
1.8
—
—
—
0
0
55
463
1.22
0.64
2.1
2.1
—
—
—
0
0
13
87
1.51
0.64
2.8
1.8
—
—
—
0
0
10
150
0.66
0.59
1.5
1.6
—
—
—
0
0
13
89
1.47
0.58
2.8
1.8
—
—
—
0
0
86
761
1.16
0.58
2.8
2.9
0.90
0.73
ug/l
0.66
55
484
6
36
1.68
0.57
18.8
3.9
—
—
—
0
0
8
55
1.46
0.56
3.1
1.5
—
—
—
0
0
323
3120
1.14
0.54
5.9
4.9
38.15
38.84
mmol/mol
0.63
310
2911
12
83
1.46
0.52
4.8
1.5
—
—
—
0
0
15
110
1.38
0.49
1.3
1.1
—
—
—
0
0
7
46
1.53
0.48
2.7
1.8
—
—
—
0
0
7
46
1.53
0.48
3.0
1.3
—
—
—
0
0
7
46
1.53
0.48
2.7
1.8
—
—
—
0
0
14
102
1.38
0.48
1.3
1.9
213.57
232.69
pmol/l
0.41
14
97
112
1025
1.12
0.47
4.1
4.0
24.10
21.64
%
0.85
54
483
7
48
1.47
0.47
3.0
1.3
—
—
—
0
0
7
48
1.47
0.47
3.0
1.3
—
—
—
0
0
7
48
1.47
0.47
3.0
1.3
—
—
—
0
0
7
48
1.47
0.47
3.0
1.3
—
—
—
0
0
5
81
0.61
0.46
1.6
1.6
—
—
—
0
0
7
49
1.44
0.46
3.0
1.3
—
—
—
0
0
48
415
1.18
0.45
2.0
2.0
—
—
—
0
0
23
184
1.26
0.44
1.3
1.4
—
—
—
0
0
7
51
1.38
0.44
1.1
1.7
—
—
—
0
0
5
76
0.65
0.36
1.4
1.5
—
—
—
0
0
5
76
0.65
0.36
1.4
1.5
—
—
—
0
0
5
76
0.65
0.36
1.4
1.5
—
—
—
0
0
14
108
1.31
0.35
1.6
1.3
—
—
—
0
0
36
311
1.17
0.35
5.8
2.9
—
—
—
0
0
15
118
1.28
0.34
1.1
1.5
235.03
267.52
miu/ml
—
6
60
6
47
1.28
0.32
3.2
1.5
—
—
—
0
0
12
150
0.79
0.27
1.8
1.8
—
—
—
0
0
8
66
1.22
0.27
1.1
1.1
—
—
—
0
0
20
169
1.19
0.26
1.1
1.0
—
—
—
0
0
9
72
1.26
0.26
1.1
1.2
—
—
—
0
0
9
74
1.22
0.25
2.1
1.9
—
—
—
0
0
10
78
1.29
0.24
1.4
1.4
—
—
—
0
0
5
40
1.25
0.22
3.6
1.3
236.60
196.97
pmol/l
—
5
40
16
188
0.85
0.21
1.1
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
37
407
0.90
0.21
8.5
5.9
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
6
49
1.23
0.20
2.7
1.6
—
—
—
0
0
7
63
1.11
0.17
2.4
1.6
—
—
—
0
0
26
234
1.12
0.17
1.9
2.0
—
—
—
0
0
5
68
0.73
0.17
1.8
1.8
—
—
—
0
0
12
104
1.16
0.12
1.0
1.1
—
—
—
0
0
12
105
1.15
0.11
1.0
1.1
—
—
—
0
0
47
446
1.06
0.11
1.6
1.4
—
—
—
0
0
5
44
1.14
0.10
2.4
1.6
12.60
13.09
%
—
5
44
8
76
1.05
0.07
2.8
1.3
—
—
—
0
0
36
368
0.98
0.01
2.1
1.6
—
—
—
0
0
12
127
0.94
0.01
1.7
1.4
1.10
1.18
g/l
0.53
12
122
90
892
1.01
0.01
4.1
3.4
0.00
0.01
estimate
0.80
34
306
20
194
1.03
0.00
1.9
1.9
—
—
—
0
0
15
148
1.01
0.00
2.1
1.6
1.75
3.36
mg/l
—
10
106
6
62
0.97
-0.00
1.7
1.5
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.5
—
—
—
0
0
5
54
0.93
-0.00
1.2
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
9
91
0.99
-0.00
1.7
1.4
—
—
—
0
0
9
89
1.01
-0.00
1.6
1.5
—
—
—
0
0
0
8
0.00
-0.00
0.0
6.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
21.49
—
0
7
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
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
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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