No definition available.
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. |
170 |
4. Check minimum number of eventsNone |
170 |
5. Include endpointsNone |
170 |
6. Filter based on genotype QC (FinnGen only) |
151 |
Control definitions (FinnGen only)
- Control exclude
- G6_MYONEU
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- G71
- Name in latin
- Myopathia mitochondrialis non alibi classificata
Similar endpoints
↥List of similar endpoints to
Mitochondrial myopathy
based on the number of shared cases.
Similar with more cases:
- Diseases of the myoneural junction and muscle
- Neurological diseases
- Neurological diseases, wide definition
- Any prescribed medicine buy
- 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 | 856 | 465 | 387 |
| Only index persons | 696 | 388 | 308 |
| 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 | 46.83 | 50.41 | 42.39 |
| Only index persons | 46.69 | 49.89 | 42.65 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 151 | 93 | 58 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.03 |
| Median age at first event (years) | 48.65 | 48.60 | 48.73 |
-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
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
- 156
- Matched controls
- 1560
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
+∞
222.4
155
*
Z31.5
ICD-10 Finland
Genetic counselling
14.1
48.6
53
55
G72.9
ICD-10 Finland
Myopathy, unspecified
508.5
41.1
39
*
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
6.0
23.4
54
127
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
7.5
22.4
37
62
N03AE01
ATC
clonazepam; systemic
9.3
19.8
26
33
XCW99
NOMESCO Finland
Other investigative procedure of eye
6.3
17.9
35
69
E13.9
ICD-10 Finland
Other specified diabetes mellitus, without complications
48.2
17.8
21
5
N99
ICPC
Neurological disease other
101.1
16.9
18
*
XF404
NOMESCO Finland
Ambulatory ECG
6.8
16.6
29
51
H02.4
ICD-10 Finland
Ptosis of eyelid
21.1
15.2
22
12
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
4.6
15.2
44
122
XCK00
NOMESCO Finland
Perimetry
7.5
14.9
23
35
NXL00
NOMESCO Finland
Biopsy of muscle
88.7
14.9
16
*
G71.9
ICD-10 Finland
Primary disorder of muscle, unspecified
+∞
14.8
14
*
R1250
NOMESCO Finland
Evaluation of functional capability
14.7
14.5
24
19
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
4.8
14.1
38
99
G72.8
ICD-10 Finland
Other specified myopathies
82.2
13.8
15
*
H35.5
ICD-10 Finland
Hereditary retinal dystrophy
+∞
13.7
13
*
N28
ICPC
Limited function/disability (N)
44.2
13.4
16
*
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
7.0
13.3
22
36
CK2S4
NOMESCO Finland
Plain photography of ocular fundus
6.4
12.8
23
41
A10AB05
ATC
insulin aspart; parenteral
5.9
12.7
25
49
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
3.7
12.4
53
192
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
6.4
12.3
22
39
R5130
NOMESCO Finland
Repair work or maintenance done on the aid
14.1
12.0
20
16
H49.4
ICD-10 Finland
Progressive external ophthalmoplegia
+∞
11.6
11
*
NGA20
NOMESCO Finland
Exploration of soft tissue knee or lower leg, open
+∞
11.6
11
*
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
3.6
11.4
47
165
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.9
11.3
41
132
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
5.0
11.0
26
60
G11.9
ICD-10 Finland
Hereditary ataxia, unspecified
+∞
10.5
10
*
Z01.1
ICD-10 Finland
Examination of ears and hearing
3.7
10.3
39
129
Z3229
NOMESCO Finland
Other healthcare associate professional
4.6
10.3
27
68
103
Kela drug reimbursment
Diabetes, insulin-treated
3.2
9.6
49
195
A10AE04
ATC
insulin glargine; parenteral
4.5
9.6
26
67
G71.08
ICD-10 Finland
Other muscular dystrophy
+∞
9.5
9
*
DAX00
NOMESCO Finland
Adjustment or review of hearing aid
5.6
9.4
19
38
H53.2
ICD-10 Finland
Diplopia
8.0
9.1
20
28
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
4.6
9.1
23
56
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.2
8.8
43
166
R5120
NOMESCO Finland
Preparation of an aid
11.0
8.8
16
16
L28
ICPC
Limited function/disability (L)
3.3
8.6
38
138
R27.0
ICD-10 Finland
Ataxia, unspecified
95.0
8.5
9
*
182
Kela drug reimbursment
Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide
12.7
8.3
14
12
N29
ICPC
Neurological sympt/complt other
23.5
8.1
11
5
215
Kela drug reimbursment
Diabetes, non-insulin-treated
2.9
7.9
45
189
NJ3CG
NOMESCO Finland
Extensive MRI examination of extremities with median high magnet
47.4
7.8
9
*
NJ3BG
NOMESCO Finland
MRI examination of extremities with high intensity magnet
47.4
7.8
9
*
N03AX16
ATC
[U] pregabalin
2.9
7.8
48
210
SPAT1229
SPAT
Assessment of need for aid
7.8
7.7
17
24
A28
ICPC
Limited function/disability NOS
3.4
7.7
32
111
E13.8
ICD-10 Finland
Other specified diabetes mellitus, with unspecified complications
83.9
7.5
8
*
G71.8
ICD-10 Finland
Other primary disorders of muscles
+∞
7.3
7
*
G31.8
ICD-10 Finland
Other specified degenerative diseases of nervous system
+∞
7.3
7
*
J96.1
ICD-10 Finland
Chronic respiratory failure
16.8
7.3
11
7
R13
ICD-10 Finland
Dysphagia
4.5
7.3
19
47
SPAT1262
SPAT
Handing over of treatment supplies
3.3
7.3
31
109
Z46.1
ICD-10 Finland
Fitting and adjustment of hearing aid
6.0
7.2
19
35
C10AX09
ATC
ezetimibe; oral
3.0
7.1
36
141
A10AE05
ATC
insulin detemir; parenteral
7.0
6.8
16
25
DFF00
NOMESCO Finland
Pure tone audiometry
3.4
6.7
26
86
M03BX01
ATC
baclofen; systemic
13.0
6.7
11
9
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
3.6
6.6
24
76
E14.9
ICD-10 Finland
Unspecified diabetes mellitus, without complications
11.7
6.4
11
10
G11.8
ICD-10 Finland
Other hereditary ataxias
+∞
6.3
6
*
E88.8
ICD-10 Finland
Other specified metabolic disorders
+∞
6.3
6
*
SPAT1220
SPAT
Assessment of need for rehabilitation and/or rehabilitation plan
4.5
6.3
16
39
205
Kela drug reimbursment
Chronic hypertension
2.8
6.2
36
151
DFF30
NOMESCO Finland
Loudness discomfort Level (LDL)
9.2
6.2
12
14
A10BH05
ATC
linagliptin; oral
6.5
6.2
15
25
Z97.4
ICD-10 Finland
Presence of external hearing-aid
6.5
6.2
15
25
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
80
322
4.05
16.78
2.9
3.5
2230.83
723.66
ng/l
0.73
64
265
43
130
4.19
13.09
7.0
4.4
1.12
1.77
mmol/l
0.83
38
116
28
67
4.87
11.37
4.1
4.7
0.80
1.05
mmol/l
0.12
21
55
29
79
4.28
9.98
7.9
4.8
22.64
24.43
mmol/l
3.63
29
79
55
231
3.13
9.87
4.1
3.3
250.47
115.85
ng/l
0.35
42
156
104
630
2.95
9.36
11.1
8.0
1.21
1.22
mmol/l
0.74
92
555
32
101
3.73
8.96
4.7
4.4
95.52
69.96
ng/l
0.62
26
93
25
69
4.12
8.41
5.9
2.4
1.03
1.50
%
1.28
25
69
24
67
4.05
7.94
6.0
2.4
0.62
0.61
%
0.08
24
67
21
54
4.34
7.72
1.4
1.3
—
—
—
0
0
39
157
2.98
7.32
2.4
2.2
425.46
372.53
nmol/l
0.72
39
150
38
163
2.76
6.29
6.3
7.7
103.34
104.60
mmol/l
0.92
38
163
42
201
2.49
5.53
2.2
1.8
—
—
—
0
0
64
370
2.24
5.47
7.0
3.9
15.39
6.17
mg/mmol
1.01
48
239
86
562
2.18
5.39
5.7
5.4
36.64
36.87
g/l
0.14
81
543
36
162
2.59
5.37
1.8
1.7
1366.96
1148.90
nmol/l
0.56
28
119
24
89
3.01
5.12
9.5
8.8
23.37
25.06
mmol/l
1.34
24
89
91
616
2.15
5.12
3.4
2.8
78.91
74.98
nmol/l
0.65
84
569
30
126
2.71
5.12
6.2
13.0
12.86
12.18
kpa
0.27
30
120
30
126
2.71
5.12
6.2
13.0
4.79
5.20
kpa
0.95
30
120
32
144
2.54
4.75
2.1
1.7
—
—
—
0
0
19
69
3.00
4.19
1.7
1.6
—
—
—
0
0
15
50
3.21
3.80
1.3
1.4
—
—
—
0
0
30
153
2.19
3.33
2.1
1.6
—
—
—
0
0
55
351
1.88
3.29
1.8
1.6
20.24
20.42
nmol/l
0.03
48
311
9
19
4.96
3.29
1.6
2.2
18.80
16.12
%
—
9
19
12
34
3.74
3.28
1.6
1.1
0.00
0.00
g/l
-0.00
12
34
9
20
4.71
3.16
1.0
1.6
—
—
—
0
0
65
442
1.81
3.15
3.2
3.6
2.37
2.36
mmol/l
0.24
59
408
18
75
2.58
3.10
7.6
11.1
0.53
0.66
%
0.76
18
75
40
234
1.95
3.08
3.0
2.7
2.44
2.44
mmol/l
0.08
33
213
48
299
1.87
3.07
4.1
3.4
1.02
1.02
kg/l
0.30
35
186
5
5
10.27
3.00
1.4
1.0
6.80
14.80
u/l
—
5
5
59
396
1.79
2.95
1.6
1.4
0.92
1.83
u/ml
0.88
21
109
18
77
2.51
2.94
7.7
11.0
0.97
1.66
%
2.38
18
77
74
535
1.73
2.84
2.2
2.0
89.06
99.65
pmol/l
0.87
28
282
67
473
1.73
2.78
4.7
3.3
42.47
23.61
ng/l
0.72
53
292
49
321
1.77
2.62
2.1
1.9
2.78
1.05
mg/l
0.37
35
256
35
208
1.88
2.55
3.5
3.0
6.05
2.82
e6/l
0.48
20
91
10
32
3.27
2.48
1.2
1.8
—
—
—
0
0
6
12
5.15
2.42
1.0
1.0
—
—
—
0
0
7
17
4.26
2.39
1.0
1.1
—
—
—
0
0
9
28
3.35
2.35
1.0
1.5
—
—
—
0
0
8
23
3.61
2.30
6.9
1.6
9.20
7.91
pmol/l
—
8
23
36
223
1.80
2.30
3.7
2.9
0.59
0.72
e6/l
0.20
20
104
6
13
4.75
2.29
1.2
1.2
58.50
67.31
umol/l
—
6
13
140
1484
0.45
2.11
36.1
21.7
40.65
41.05
%
0.55
140
1470
140
1484
0.45
2.11
35.3
21.3
4.50
4.55
e12/l
0.65
140
1457
140
1484
0.45
2.11
35.7
21.4
135.17
137.21
g/l
0.95
140
1473
9
31
3.02
2.11
1.2
1.9
—
—
—
0
0
8
26
3.19
2.04
1.5
1.7
151.38
121.94
g/l
—
8
17
70
533
1.57
2.01
4.5
3.2
0.00
0.00
estimate
-0.00
14
118
140
1482
0.46
1.99
35.4
21.4
270.48
256.81
e9/l
1.71
140
1461
140
1482
0.46
1.99
35.2
21.3
90.54
90.68
fl
0.14
140
1472
7
21
3.44
1.99
1.0
1.1
—
—
—
0
0
7
22
3.28
1.90
1.6
1.2
—
—
—
0
0
7
22
3.28
1.90
1.6
1.2
—
—
—
0
0
8
28
2.95
1.89
1.5
1.5
—
—
—
0
0
53
384
1.58
1.86
5.4
3.4
0.00
0.01
estimate
0.50
13
132
6
17
3.63
1.85
1.0
1.8
—
—
—
0
0
9
35
2.67
1.83
1.0
1.9
—
—
—
0
0
18
101
1.88
1.57
2.7
3.1
47.50
74.79
ml/min/173m2
—
6
47
5
15
3.41
1.53
1.0
1.1
—
1.11
—
0
10
6
21
2.93
1.52
1.0
1.7
—
—
—
0
0
17
95
1.89
1.50
2.6
4.5
4.08
4.69
pmol/l
1.55
17
86
10
45
2.31
1.50
2.5
1.9
—
—
—
0
0
44
320
1.52
1.49
2.9
2.8
344.85
336.23
umol/l
0.16
39
283
22
135
1.73
1.45
5.6
6.0
—
—
—
0
0
5
16
3.19
1.45
1.0
1.9
—
—
—
0
0
12
61
2.05
1.37
1.4
1.3
—
—
—
0
0
5
18
2.83
1.29
1.0
1.6
—
—
—
0
0
9
44
2.11
1.29
2.4
1.8
—
—
—
0
0
8
35
2.35
1.29
2.6
2.7
—
—
—
0
0
41
304
1.47
1.26
3.0
2.0
2.72
3.07
mg/l
0.49
35
263
120
1080
1.48
1.25
5.2
4.7
14.86
14.61
pmol/l
0.58
115
1002
47
359
1.44
1.24
5.7
3.1
0.93
0.24
e6/l
0.45
34
248
85
721
1.39
1.23
5.2
3.5
0.00
0.00
estimate
-0.00
16
136
5
20
2.55
1.16
1.2
1.2
—
—
—
0
0
5
20
2.55
1.16
7.4
3.8
5.92
2.78
nmol/l
—
5
20
87
990
0.73
1.15
3.7
3.5
—
—
—
0
0
8
41
2.00
1.10
1.1
1.3
—
—
—
0
0
84
721
1.36
1.08
5.2
3.5
0.00
0.00
estimate
-0.00
16
136
106
1165
0.72
1.08
31.2
17.1
13.37
13.46
%
0.31
106
1157
5
22
2.31
1.04
1.4
1.3
—
—
—
0
0
6
30
2.04
0.88
1.2
1.4
—
—
—
0
0
49
399
1.33
0.86
4.4
2.7
0.00
0.00
estimate
-0.00
12
111
6
31
1.97
0.85
1.2
2.9
—
—
—
0
0
40
318
1.35
0.82
2.1
2.4
—
—
—
0
0
15
99
1.57
0.79
1.2
2.0
—
—
—
0
0
16
108
1.54
0.77
1.4
1.4
—
—
—
0
0
9
56
1.64
0.74
1.7
1.5
—
—
—
0
0
138
1433
0.68
0.72
16.1
11.6
34.25
27.52
u/l
3.35
138
1408
17
119
1.48
0.70
2.4
2.6
11.21
14.59
nmol/l
1.16
17
113
82
735
1.24
0.65
5.5
3.5
0.00
0.00
estimate
-0.00
15
133
12
79
1.56
0.64
2.2
1.7
—
—
—
0
0
5
29
1.75
0.64
1.2
1.3
—
—
—
0
0
36
293
1.30
0.63
1.3
1.3
9.21
24.92
iu/ml
—
7
94
0
23
0.00
0.59
0.0
2.0
—
13.47
—
0
23
131
1364
0.75
0.57
25.7
13.7
24.38
20.24
mg/l
0.60
118
1067
16
116
1.42
0.57
1.4
2.0
—
—
—
0
0
6
39
1.56
0.53
4.0
3.9
3.65
3.29
g/l
—
6
39
6
39
1.56
0.53
1.2
1.2
—
—
—
0
0
6
40
1.52
0.52
1.2
1.2
—
—
—
0
0
18
233
0.74
0.52
3.3
3.9
23.93
20.52
%
—
9
89
7
46
1.55
0.49
4.0
3.5
226.57
188.33
%
—
7
46
33
277
1.24
0.46
1.2
1.3
2.14
8.40
u/ml
1.46
14
110
139
1429
0.75
0.44
30.8
17.0
80.68
72.42
umol/l
0.93
139
1412
8
56
1.45
0.43
1.1
1.4
—
8.93
—
0
13
5
33
1.53
0.41
1.0
1.2
—
4.09
—
0
14
5
33
1.53
0.41
1.2
1.2
—
—
—
0
0
12
89
1.38
0.39
1.0
1.1
—
—
—
0
0
56
611
0.87
0.32
2.7
2.8
—
—
estimate
—
0
0
138
1343
1.24
0.31
31.5
15.4
139.01
139.76
mmol/l
2.39
138
1326
138
1346
1.22
0.28
31.8
15.5
4.04
3.95
mmol/l
2.66
138
1325
8
65
1.24
0.27
2.1
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
2.1
—
0.20
—
0
5
0
13
0.00
0.21
0.0
1.3
—
9.62
—
0
13
5
65
0.76
0.17
1.6
1.9
—
—
—
0
0
5
68
0.73
0.17
1.8
1.7
408.40
323.03
mu/l
—
5
63
130
1275
1.12
0.16
24.8
12.6
86.29
87.03
ml/min/173m2
0.11
125
1175
13
112
1.18
0.15
5.2
3.0
—
—
—
0
0
22
235
0.93
0.08
2.2
2.2
—
—
—
0
0
128
1266
1.06
0.06
6.0
4.7
6.19
5.78
mmol/l
2.30
122
1195
26
268
0.96
0.02
1.3
1.5
—
—
—
0
0
32
324
0.98
0.00
1.6
1.7
—
—
—
0
0
21
215
0.97
0.00
1.9
2.1
—
—
—
0
0
5
52
0.96
-0.00
1.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.8
—
11.57
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
1.15
—
0
6
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
9.28
—
0
5
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
8
81
0.99
-0.00
1.1
1.4
—
—
—
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
7
0.00
-0.00
0.0
3.3
—
1.29
—
0
7
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
2.8
—
4.49
—
0
6
5
51
0.98
-0.00
1.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
43.54
—
0
5
0
5
0.00
-0.00
0.0
7.8
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint G6_MITOCMY and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_MITOCMY | 4.998 [3.54, 7.06] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.267 |
During the follow-up period (1.1.1998 — 31.12.2019), 104 out of 373 females with G6_MITOCMY died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_MITOCMY | 4.33 [2.96, 6.34] | < 0.001 |
| Birth year | 0.986 [0.98, 1.0] | 0.009 |
During the follow-up period (1.1.1998 — 31.12.2019), 90 out of 317 males with G6_MITOCMY died.
Mortality risk
Mortality risk for people of age
years, who have G6_MITOCMY.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.585% | 0.899% |
| 5 | 3.166% | 5.188% |
| 10 | 7.96% | 12.612% |
| 15 | 13.614% | 22.547% |
| 20 | 22.641% | 35.342% |
Relationships between endpoints
↥Index endpoint: G6_MITOCMY – Mitochondrial myopathy
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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