No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
85 |
4. Check minimum number of eventsNone |
85 |
5. Include endpointsNone |
85 |
6. Filter based on genotype QC (FinnGen only) |
85 |
Control definitions (FinnGen only)
- Control exclude
- Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM
Extra metadata
- First used in FinnGen datafreeze
- DF12
Similar endpoints
↥List of similar endpoints to
Osteogenesis imperfecta
based on the number of shared cases.
Similar with more cases:
- Other osteochondrodysplasias
- Congenital malformations and deformations of the musculoskeletal system
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
This endpoint is excluded (different definition than used in FinnGen).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 85 | 60 | 25 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.01 |
| Median age at first event (years) | 32.70 | 31.90 | 34.62 |
-FinnGen-
Age distribution of first events
-FinnGen-
Year distribution of first events
-FinnGen-
Cumulative Incidence Function
No data
CodeWAS (R11)
↥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.
No data available
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
29
0
+∞
32.37
2.1
0.0
—
—
—
0
0
44
83
9.92
25.57
8.9
10.6
1.1
1.2
mmol/l
2.07
44
78
72
283
11.10
19.43
8.7
2.7
81.4
74.2
nmol/l
2.18
72
263
73
316
10.28
16.99
12.9
9.2
1.2
1.2
mmol/l
0.70
67
277
9
9
11.00
5.16
1.0
1.1
—
—
—
0
0
34
165
2.77
4.73
2.5
2.5
—
—
—
0
0
61
422
2.58
3.80
8.7
11.6
3.9
3.8
e9/l
0.06
44
370
19
78
2.85
3.52
11.2
11.3
25.6
25.1
mmol/l
0.30
19
78
10
28
3.91
3.30
4.7
10.9
1.3
1.4
%
—
10
28
5
8
6.55
2.40
1.8
1.4
—
—
—
0
0
20
101
2.28
2.40
3.5
3.2
3.8
2.6
e6/l
—
10
56
9
28
3.47
2.39
3.0
1.9
—
—
—
0
0
46
322
1.93
2.30
3.7
4.1
—
—
—
0
0
7
19
3.92
2.20
1.4
1.1
—
—
—
0
0
7
19
3.92
2.20
1.4
1.1
—
—
—
0
0
33
233
1.68
1.44
3.8
3.7
—
—
—
0
0
18
106
1.89
1.43
3.7
3.3
0.9
0.7
e6/l
—
8
62
13
68
2.08
1.42
2.8
1.7
—
—
—
0
0
0
37
0.00
1.38
0.0
1.4
—
—
—
0
0
16
95
1.84
1.24
2.6
1.9
—
—
—
0
0
29
205
1.63
1.24
2.1
1.7
114.0
106.8
pmol/l
0.24
12
106
55
636
0.62
1.24
4.3
4.0
4.9
4.7
mmol/l
0.85
50
592
12
66
1.95
1.16
3.0
1.7
—
—
—
0
0
56
641
0.63
1.14
4.8
4.3
3.1
2.8
mmol/l
0.98
49
594
7
33
2.22
1.08
2.1
7.2
168.6
167.5
%
—
7
33
55
629
0.64
1.06
4.2
3.9
1.5
1.5
mmol/l
0.26
49
579
26
186
1.57
1.04
4.4
3.5
0.3
0.1
e6/l
0.62
17
139
63
552
1.55
0.94
4.8
4.0
14.5
14.5
pmol/l
0.02
56
510
66
585
1.57
0.93
16.5
9.9
100.6
90.3
ml/min/173m2
2.68
57
455
23
167
1.52
0.86
3.3
3.1
2.7
3.0
mg/l
0.19
18
149
0
26
0.00
0.80
0.0
1.1
—
—
—
0
0
40
330
1.40
0.76
5.3
5.0
0.0
0.0
estimate
—
5
53
54
604
0.71
0.73
3.5
3.6
1.2
1.3
mmol/l
0.35
47
551
40
336
1.36
0.66
3.5
3.5
0.0
0.0
estimate
—
5
47
0
21
0.00
0.61
0.0
1.9
—
—
—
0
0
53
585
0.75
0.57
3.9
3.6
—
—
—
0
0
71
667
1.39
0.47
5.4
4.5
1.7
1.9
mu/l
0.65
63
611
21
256
0.76
0.44
3.9
3.4
—
—
—
0
0
11
79
1.45
0.43
1.1
1.6
1177.5
1152.0
nmol/l
—
6
66
0
15
0.00
0.41
0.0
1.2
—
122.0
—
0
15
0
15
0.00
0.41
0.0
1.2
—
47.1
—
0
8
0
16
0.00
0.41
0.0
2.1
—
—
—
0
0
0
17
0.00
0.41
0.0
1.0
—
—
—
0
0
0
17
0.00
0.41
0.0
1.6
—
—
—
0
0
0
18
0.00
0.40
0.0
1.3
—
—
—
0
0
0
18
0.00
0.40
0.0
1.3
—
58.5
—
0
18
9
66
1.41
0.40
1.9
2.7
39.4
25.0
u/l
—
9
51
19
153
1.31
0.40
2.1
2.4
190.5
172.4
u/l
0.12
19
146
0
19
0.00
0.39
0.0
1.1
—
3.6
—
0
9
0
19
0.00
0.39
0.0
1.8
—
—
—
0
0
6
41
1.50
0.37
1.2
1.5
—
—
—
0
0
6
41
1.50
0.37
1.2
1.5
—
—
—
0
0
6
41
1.50
0.37
1.2
1.5
—
—
—
0
0
6
43
1.42
0.36
1.2
1.6
—
—
—
0
0
60
567
1.20
0.26
4.9
5.0
37.6
38.7
mmol/mol
0.46
55
526
73
705
1.25
0.23
16.6
12.2
24.6
21.9
mg/l
0.29
61
525
5
40
1.27
0.23
2.0
6.5
84.2
99.9
%
—
5
40
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
2.4
—
3.7
—
0
10
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.7
—
—
—
0
0
0
10
0.00
0.21
0.0
1.9
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
91.6
—
0
12
0
12
0.00
0.21
0.0
1.8
—
—
—
0
0
6
47
1.30
0.21
1.8
3.7
—
—
—
0
0
0
13
0.00
0.21
0.0
1.6
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
1.7
—
0
7
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
6
77
0.76
0.16
1.2
2.1
—
—
—
0
0
11
129
0.83
0.16
1.5
1.4
—
—
—
0
0
12
136
0.86
0.12
2.1
3.9
263.4
327.6
umol/l
1.96
12
124
5
44
1.14
0.10
1.0
1.7
—
—
—
0
0
6
74
0.80
0.08
1.3
1.6
—
—
—
0
0
16
171
0.92
0.05
3.9
3.6
0.0
0.0
estimate
—
5
53
62
610
1.06
0.04
4.5
3.8
5.7
5.8
mmol/l
0.24
55
555
21
202
1.05
0.02
1.9
3.1
132.3
20.7
ng/l
0.44
13
121
13
123
1.07
0.02
1.3
1.2
1.1
7.3
u/ml
—
5
52
21
212
0.99
0.00
1.8
2.0
—
—
—
0
0
12
117
1.03
0.00
2.1
2.1
—
—
—
0
0
13
127
1.03
0.00
2.2
2.3
—
—
—
0
0
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
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
1.5
—
1442.0
—
0
6
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
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
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
0
8
0.00
0.00
0.0
2.0
—
—
—
0
0
0
8
0.00
0.00
0.0
2.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
0.4
—
0
7
0
6
0.00
0.00
0.0
2.8
—
—
—
0
0
6
66
0.90
0.00
5.0
6.2
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
5.6
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
2.6
—
2.6
—
0
8
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
9
0.00
0.00
0.0
4.6
—
119.0
—
0
9
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
13.2
—
0
5
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_OSTEOGEN_IMPERFECTA – Osteogenesis imperfecta
GWS hits: -
This endpoint is excluded (different definition than used in FinnGen).