No definition available.
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. |
151 |
4. Check minimum number of eventsNone |
151 |
5. Include endpointsNone |
151 |
6. Filter based on genotype QC (FinnGen only) |
146 |
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 event in hilmo or specialist outpatient
- Any prescribed medicine buy
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 | 146 | 90 | 56 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.03 |
| Median age at first event (years) | 48.70 | 48.43 | 49.15 |
-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
- 151
- Matched controls
- 1510
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
+∞
215.1
150
*
Z31.5
ICD-10 Finland
Genetic counselling
15.2
49.2
51
49
G72.9
ICD-10 Finland
Myopathy, unspecified
+∞
42.8
39
*
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
7.0
26.5
52
106
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
8.3
23.2
35
53
XF404
NOMESCO Finland
Ambulatory ECG
6.9
16.9
29
50
XCW99
NOMESCO Finland
Other investigative procedure of eye
6.0
16.3
33
67
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
5.1
16.2
41
102
XCK00
NOMESCO Finland
Perimetry
7.8
15.3
23
34
N99
ICPC
Neurological disease other
+∞
14.8
14
*
G71.9
ICD-10 Finland
Primary disorder of muscle, unspecified
+∞
14.8
14
*
E13.9
ICD-10 Finland
Other specified diabetes mellitus, without complications
40.5
14.8
18
5
NXL00
NOMESCO Finland
Biopsy of muscle
165.3
14.7
15
*
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
5.3
14.5
34
79
H02.4
ICD-10 Finland
Ptosis of eyelid
20.1
14.3
21
12
A10AB05
ATC
insulin aspart; parenteral
6.5
13.9
25
45
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
7.2
13.7
22
35
R1250
NOMESCO Finland
Evaluation of functional capability
15.0
12.9
21
16
G72.8
ICD-10 Finland
Other specified myopathies
76.5
12.8
14
*
H35.5
ICD-10 Finland
Hereditary retinal dystrophy
+∞
12.7
12
*
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
3.7
12.4
51
181
N28
ICPC
Limited function/disability (N)
51.1
12.1
14
*
CK2S4
NOMESCO Finland
Plain photography of ocular fundus
6.4
11.8
21
37
NGA20
NOMESCO Finland
Exploration of soft tissue knee or lower leg, open
+∞
11.6
11
*
H49.4
ICD-10 Finland
Progressive external ophthalmoplegia
+∞
11.6
11
*
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
3.8
11.3
44
149
R5130
NOMESCO Finland
Repair work or maintenance done on the aid
15.5
11.3
18
13
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.9
10.9
38
119
N03AE01
ATC
clonazepam; systemic
8.8
10.9
23
30
G11.9
ICD-10 Finland
Hereditary ataxia, unspecified
+∞
10.5
10
*
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
5.2
10.4
23
50
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.9
10.0
24
56
Z01.1
ICD-10 Finland
Examination of ears and hearing
3.8
10.0
36
115
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.5
9.9
42
150
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
5.7
9.6
19
37
G71.08
ICD-10 Finland
Other muscular dystrophy
+∞
9.5
9
*
A10AE04
ATC
insulin glargine; parenteral
4.6
9.2
24
60
Z3229
NOMESCO Finland
Other healthcare associate professional
4.3
8.9
25
66
R5120
NOMESCO Finland
Preparation of an aid
12.7
8.8
15
13
103
Kela drug reimbursment
Diabetes, insulin-treated
3.2
8.7
44
174
L28
ICPC
Limited function/disability (L)
3.6
8.7
33
109
NJ3BG
NOMESCO Finland
MRI examination of extremities with high intensity magnet
95.1
8.5
9
*
NJ3CG
NOMESCO Finland
Extensive MRI examination of extremities with median high magnet
47.5
7.8
9
*
N03AX16
ATC
[U] pregabalin
2.9
7.6
46
199
A28
ICPC
Limited function/disability NOS
3.6
7.6
28
90
Z46.1
ICD-10 Finland
Fitting and adjustment of hearing aid
6.9
7.5
18
29
R27.0
ICD-10 Finland
Ataxia, unspecified
84.0
7.5
8
*
J96.1
ICD-10 Finland
Chronic respiratory failure
16.8
7.3
11
7
E13.8
ICD-10 Finland
Other specified diabetes mellitus, with unspecified complications
+∞
7.3
7
*
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
*
R13
ICD-10 Finland
Dysphagia
4.6
7.2
18
43
N29
ICPC
Neurological sympt/complt other
21.3
7.2
10
5
SPAT1229
SPAT
Assessment of need for aid
7.6
7.2
16
23
H53.2
ICD-10 Finland
Diplopia
7.0
7.2
17
27
A10AE05
ATC
insulin detemir; parenteral
7.3
7.0
16
24
DAX00
NOMESCO Finland
Adjustment or review of hearing aid
6.2
7.0
18
32
SPAT1262
SPAT
Handing over of treatment supplies
3.3
7.0
30
106
215
Kela drug reimbursment
Diabetes, non-insulin-treated
2.9
7.0
40
168
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
3.7
6.7
23
70
182
Kela drug reimbursment
Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide
10.7
6.7
12
12
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.4
6.5
73
422
DFF30
NOMESCO Finland
Loudness discomfort Level (LDL)
9.9
6.4
12
13
A10BH05
ATC
linagliptin; oral
7.6
6.4
14
20
E88.8
ICD-10 Finland
Other specified metabolic disorders
+∞
6.3
6
*
DFF00
NOMESCO Finland
Pure tone audiometry
3.5
6.2
23
74
R5140
NOMESCO Finland
Monitoring the use of the aid
3.2
6.0
26
92
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
6.9
6.0
14
22
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
45
131
4.47
14.57
8.7
7.1
1.12
1.06
mmol/l
0.80
45
123
66
261
3.72
13.79
2.7
3.3
2132.08
681.27
ng/l
0.59
54
215
97
521
3.41
11.96
9.8
7.6
1.21
1.22
mmol/l
0.82
83
451
50
184
3.57
11.36
3.7
3.2
267.17
126.25
ng/l
0.32
38
125
25
59
4.88
10.29
4.3
5.1
0.75
1.02
mmol/l
0.12
19
48
88
477
3.02
10.12
11.2
6.5
1.22
1.22
mmol/l
0.03
83
444
21
51
4.62
8.31
6.4
2.2
1.00
1.43
%
0.81
21
51
20
48
4.65
8.02
6.5
2.3
0.65
0.68
%
0.16
20
48
20
52
4.28
7.25
1.4
1.3
—
—
—
0
0
32
126
2.95
6.21
2.4
2.0
443.69
366.42
nmol/l
1.15
32
118
54
279
2.46
6.13
6.6
3.5
22.21
6.99
mg/mmol
1.14
37
183
35
155
2.64
5.42
1.7
1.7
1348.33
1177.57
nmol/l
0.39
27
112
36
162
2.60
5.39
2.1
1.7
—
—
—
0
0
77
487
2.19
5.26
3.0
2.4
79.74
73.90
nmol/l
0.98
70
440
74
462
2.18
5.21
5.3
5.3
36.73
36.74
g/l
0.00
69
442
67
406
2.17
5.05
1.9
1.8
89.12
99.00
pmol/l
0.68
25
205
74
473
2.11
4.80
11.5
10.6
1.14
1.16
inr
0.06
21
140
19
65
3.20
4.63
9.8
6.9
23.68
24.98
mmol/l
0.68
19
65
27
116
2.62
4.40
6.4
7.1
104.04
104.33
mmol/l
0.13
27
116
24
104
2.55
3.83
5.5
12.6
4.94
5.17
kpa
0.43
24
98
24
104
2.55
3.83
5.5
12.6
12.11
11.97
kpa
0.04
24
98
11
24
4.86
3.83
1.6
1.0
0.00
0.00
g/l
-0.00
11
24
42
233
2.11
3.82
1.6
1.5
20.71
21.80
nmol/l
0.14
37
198
35
183
2.19
3.69
2.9
2.9
2.43
2.44
mmol/l
0.11
29
164
15
52
3.09
3.58
5.3
3.0
47.99
51.77
%
0.24
15
52
25
115
2.41
3.53
2.0
1.7
—
—
—
0
0
12
32
3.98
3.48
1.7
1.2
—
—
—
0
0
58
376
1.88
3.34
5.1
3.0
—
—
—
0
0
61
404
1.86
3.28
4.2
3.1
45.87
24.11
ng/l
0.72
46
241
7
11
6.61
3.22
1.0
1.7
—
—
—
0
0
15
57
2.81
3.07
1.7
1.5
—
—
—
0
0
57
376
1.83
3.06
3.0
3.6
2.38
2.36
mmol/l
0.43
52
333
50
317
1.86
3.05
1.5
1.3
0.99
2.11
u/ml
0.88
17
86
15
59
2.71
2.89
7.2
9.2
0.62
0.71
%
0.40
15
59
15
60
2.67
2.80
7.2
9.1
1.13
1.84
%
1.93
15
60
6
10
6.19
2.72
1.0
1.0
—
—
—
0
0
7
15
4.84
2.63
1.0
1.1
—
—
—
0
0
23
116
2.16
2.63
2.0
1.6
—
—
—
0
0
43
276
1.78
2.46
2.1
1.9
3.28
0.87
mg/l
0.45
29
214
8
22
3.78
2.40
1.3
2.1
—
—
—
0
0
7
17
4.26
2.39
1.0
1.6
—
—
—
0
0
7
19
3.81
2.18
1.0
1.1
—
—
—
0
0
112
948
1.70
2.14
4.6
4.2
14.72
14.58
pmol/l
0.25
107
869
8
26
3.19
2.04
2.6
2.3
—
—
—
0
0
8
26
3.19
2.04
1.3
1.8
—
—
—
0
0
44
299
1.67
2.03
5.4
3.2
0.00
0.01
estimate
—
7
106
7
21
3.44
1.99
1.4
1.6
—
—
—
0
0
5
12
4.27
1.84
1.0
1.1
—
—
—
0
0
5
12
4.27
1.84
1.0
2.3
—
—
—
0
0
5
12
4.27
1.84
1.0
2.3
—
—
—
0
0
6
18
3.43
1.76
1.3
2.2
—
—
—
0
0
6
18
3.43
1.76
1.3
2.2
—
—
—
0
0
11
48
2.39
1.75
1.3
1.2
—
—
—
0
0
5
13
3.94
1.73
1.2
1.2
58.80
67.31
umol/l
—
5
13
7
25
2.88
1.67
1.0
1.8
—
—
—
0
0
58
439
1.52
1.66
4.6
3.1
—
—
—
0
0
10
42
2.48
1.65
2.4
1.8
—
—
—
0
0
5
14
3.65
1.63
1.0
1.7
—
—
—
0
0
6
20
3.08
1.59
1.7
1.2
—
—
—
0
0
6
20
3.08
1.59
1.7
1.2
—
—
—
0
0
6
20
3.08
1.59
1.5
1.8
149.67
123.50
g/l
—
6
10
24
148
1.74
1.56
2.5
3.0
6.57
6.10
umol/l
0.11
19
123
0
45
0.00
1.52
0.0
1.6
—
—
—
0
0
28
183
1.65
1.48
3.1
2.7
0.62
0.75
e6/l
0.18
19
93
27
175
1.66
1.47
3.2
2.8
6.00
2.91
e6/l
0.42
19
87
5
16
3.19
1.45
1.0
1.9
—
—
—
0
0
6
22
2.80
1.45
1.2
1.3
—
—
—
0
0
9
41
2.27
1.39
2.3
1.6
—
—
—
0
0
5
17
3.00
1.37
1.4
1.3
—
—
—
0
0
9
42
2.21
1.36
1.6
2.1
—
—
—
0
0
125
1134
1.59
1.34
5.6
4.7
1.77
2.90
mu/l
0.55
119
1052
81
940
0.70
1.33
3.7
3.4
—
—
—
0
0
21
132
1.69
1.29
5.8
5.8
—
—
—
0
0
38
278
1.49
1.25
2.7
2.6
352.66
5835.93
umol/l
1.30
32
240
5
19
2.69
1.22
6.2
3.4
3.92
2.89
nmol/l
—
5
19
135
1415
0.57
1.19
29.4
17.3
4.49
4.56
e12/l
0.88
135
1376
135
1415
0.57
1.19
29.6
17.4
134.71
137.41
g/l
1.32
135
1397
132
1224
1.62
1.16
26.0
12.9
138.95
139.73
mmol/l
2.55
132
1197
135
1413
0.58
1.12
29.8
17.4
40.12
40.85
%
0.80
129
1352
135
1412
0.59
1.08
29.4
17.4
268.87
256.77
e9/l
1.34
135
1376
132
1230
1.58
1.06
26.3
12.9
4.04
3.94
mmol/l
2.87
132
1201
11
61
1.87
1.01
2.1
1.6
—
—
—
0
0
68
573
1.34
0.98
4.9
3.2
0.00
0.00
estimate
—
9
108
14
86
1.69
0.94
2.6
3.8
4.01
4.76
pmol/l
1.58
14
77
38
298
1.37
0.86
5.6
2.9
1.05
0.21
e6/l
0.49
30
213
67
575
1.30
0.81
6.1
4.5
0.00
0.00
estimate
—
9
105
34
266
1.36
0.78
2.3
2.3
—
—
—
0
0
29
221
1.39
0.77
1.2
1.3
9.70
27.37
iu/ml
—
5
80
6
34
1.80
0.77
1.2
1.2
—
—
—
0
0
6
34
1.80
0.77
1.2
1.2
—
—
—
0
0
9
54
1.71
0.76
1.7
1.5
—
—
—
0
0
5
26
1.95
0.71
1.2
2.9
—
—
—
0
0
5
26
1.95
0.71
3.2
1.6
—
93.94
—
0
5
5
27
1.88
0.69
1.2
1.3
—
—
—
0
0
5
29
1.75
0.64
1.0
1.3
—
—
—
0
0
5
29
1.75
0.64
4.6
4.6
3.34
3.43
g/l
—
5
29
5
30
1.69
0.62
1.0
1.1
—
4.42
—
0
12
12
80
1.54
0.62
1.1
1.8
—
—
—
0
0
103
1102
0.79
0.61
25.2
14.2
13.82
14.64
%
1.25
103
1089
0
23
0.00
0.59
0.0
2.0
—
13.47
—
0
23
66
584
1.23
0.58
5.1
3.2
0.00
0.00
estimate
—
8
103
6
37
1.65
0.56
4.3
4.1
206.17
187.05
%
—
6
37
122
1167
1.24
0.42
5.0
4.0
6.16
5.76
mmol/l
1.96
116
1094
0
15
0.00
0.41
0.0
4.1
—
111.71
—
0
15
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
6
45
1.35
0.34
1.2
1.4
—
10.44
—
0
10
48
531
0.86
0.34
2.8
2.6
—
—
—
0
0
26
223
1.20
0.31
1.2
1.3
2.43
9.53
u/ml
1.33
11
92
7
54
1.31
0.31
2.3
1.4
—
—
—
0
0
10
77
1.32
0.27
1.1
1.3
23.84
22.55
iu/l
—
10
66
18
212
0.83
0.26
2.3
2.2
—
—
—
0
0
12
96
1.27
0.25
5.2
3.0
—
—
—
0
0
5
37
1.36
0.24
1.2
1.3
—
—
—
0
0
5
37
1.36
0.24
1.0
1.3
—
—
—
0
0
5
38
1.33
0.23
1.0
1.1
—
—
—
0
0
12
98
1.24
0.22
1.3
1.9
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
2.0
—
0.20
—
0
5
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
31
280
1.13
0.20
1.5
1.6
—
—
—
0
0
122
1248
0.88
0.19
6.0
4.3
2.83
2.86
mmol/l
0.18
117
1169
22
246
0.88
0.18
1.3
1.5
—
—
—
0
0
18
204
0.87
0.17
2.8
3.8
23.60
19.77
%
—
9
81
17
191
0.88
0.14
1.9
2.0
—
—
—
0
0
121
1233
0.91
0.14
5.6
4.0
4.64
4.79
mmol/l
0.95
116
1165
8
74
1.09
0.07
1.1
1.4
—
—
—
0
0
125
1260
0.95
0.03
21.6
11.6
24.98
20.24
mg/l
0.59
106
934
133
1336
0.96
0.00
13.1
9.6
34.55
27.04
u/l
3.45
133
1301
114
1145
0.98
0.00
21.1
10.1
87.08
87.78
ml/min/173m2
0.09
102
924
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
8
79
1.01
-0.00
1.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
3.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
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
2.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
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
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
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
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
9.28
—
0
5
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: -
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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