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. |
143 |
4. Check minimum number of eventsNone |
143 |
5. Include endpointsNone |
143 |
6. Filter based on genotype QC (FinnGen only) |
143 |
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 | 143 | 90 | 53 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.02 |
| Median age at first event (years) | 48.15 | 47.84 | 48.66 |
-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 (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.
Matched cohort
- Matched cases
- 130
- Matched controls
- 1300
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
+∞
184.6
129
*
G72.9
ICD-10 Finland
Myopathy, unspecified
460.0
35.8
34
*
Z31.5
ICD-10 Finland
Genetic counselling
18.7
24.9
39
29
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
11.0
15.9
31
36
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
6.3
14.4
42
91
G71.9
ICD-10 Finland
Primary disorder of muscle, unspecified
+∞
13.8
13
*
G72.8
ICD-10 Finland
Other specified myopathies
+∞
13.8
13
*
E13.9
ICD-10 Finland
Other specified diabetes mellitus, without complications
143.3
12.7
13
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
6.0
11.3
33
70
NXL00
NOMESCO Finland
Biopsy of muscle
119.2
10.6
11
*
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
6.8
10.6
27
48
R1250
NOMESCO Finland
Evaluation of functional capability
13.8
10.2
17
14
N99
ICPC
Neurological disease other
43.7
10.2
12
*
H02.4
ICD-10 Finland
Ptosis of eyelid
18.6
10.1
15
9
R5130
NOMESCO Finland
Repair work or maintenance done on the aid
22.2
10.0
14
7
H35.5
ICD-10 Finland
Hereditary retinal dystrophy
107.5
9.5
10
*
H49.4
ICD-10 Finland
Progressive external ophthalmoplegia
+∞
9.5
9
*
G71.08
ICD-10 Finland
Other muscular dystrophy
+∞
9.5
9
*
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
3.8
8.6
40
135
XCK00
NOMESCO Finland
Perimetry
8.0
8.6
19
27
L28
ICPC
Limited function/disability (L)
5.2
8.6
27
62
H53.2
ICD-10 Finland
Diplopia
14.1
8.6
14
11
NGA20
NOMESCO Finland
Exploration of soft tissue knee or lower leg, open
+∞
8.4
8
*
E14.9
ICD-10 Finland
Unspecified diabetes mellitus, without complications
35.8
8.2
10
*
R5120
NOMESCO Finland
Preparation of an aid
23.8
8.2
11
5
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
9.4
8.1
16
19
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
7.2
8.1
19
30
CK2S4
NOMESCO Finland
Plain photography of ocular fundus
7.0
7.9
19
31
DAX00
NOMESCO Finland
Adjustment or review of hearing aid
9.8
7.8
15
17
N03AX14
ATC
levetiracetam; systemic
26.8
7.7
10
*
XF404
NOMESCO Finland
Ambulatory ECG
5.0
7.5
24
56
XCW99
NOMESCO Finland
Other investigative procedure of eye
4.8
7.5
25
61
NJ3CG
NOMESCO Finland
Extensive MRI examination of extremities with median high magnet
84.7
7.5
8
*
C10AX09
ATC
ezetimibe; oral
4.9
7.4
24
57
N03AE01
ATC
clonazepam; systemic
6.4
7.4
19
34
G11.9
ICD-10 Finland
Hereditary ataxia, unspecified
+∞
7.4
7
*
I42.2
ICD-10 Finland
Other hypertrophic cardiomyopathy
32.0
7.2
9
*
DFF30
NOMESCO Finland
Loudness discomfort Level (LDL)
32.0
7.2
9
*
182
Kela drug reimbursment
Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide
32.0
7.2
9
*
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
3.7
7.2
33
109
N29
ICPC
Neurological sympt/complt other
42.3
6.8
8
*
NJ3BG
NOMESCO Finland
MRI examination of extremities with high intensity magnet
42.3
6.8
8
*
N28
ICPC
Limited function/disability (N)
24.0
6.8
9
*
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
5.4
6.6
19
40
N03AF02
ATC
oxcarbazepine; oral
15.3
6.5
10
7
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
5.6
6.5
18
36
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.4
6.4
32
113
SPAT1215
SPAT
Assessment of need for medical rehabilitation
11.9
6.4
11
10
G71.8
ICD-10 Finland
Other primary disorders of muscles
+∞
6.3
6
*
E13.8
ICD-10 Finland
Other specified diabetes mellitus, with unspecified complications
+∞
6.3
6
*
A10AB05
ATC
insulin aspart; parenteral (insulins and analog. for injection, fast-acting)
5.8
6.3
17
33
A10AE04
ATC
insulin glargine; parenteral
4.8
6.3
20
47
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.6
6.2
29
97
G40.9
ICD-10 Finland
Epilepsy, unspecified
10.8
6.2
11
11
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
5.6
6.1
17
34
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
43
123
4.57
14.29
9.0
7.4
1.1
1.1
mmol/l
0.52
43
115
62
251
3.60
12.41
2.8
3.3
2249.7
701.8
ng/l
0.60
51
207
35
96
4.50
12.13
7.6
4.7
0.7
2.0
mmol/l
1.79
30
78
89
494
3.12
9.94
10.4
7.8
1.2
1.2
mmol/l
0.60
75
424
46
175
3.40
9.85
3.8
3.1
289.4
131.6
ng/l
0.34
35
118
23
59
4.45
8.54
4.6
5.1
0.8
1.0
mmol/l
0.10
18
48
80
454
2.73
8.01
12.0
6.6
1.2
1.2
mmol/l
0.08
75
420
20
50
4.49
7.64
6.5
2.2
1.0
1.4
%
0.83
20
50
19
51
4.14
6.61
1.4
1.3
—
—
—
0
0
31
120
3.02
6.23
2.4
2.1
450.2
369.3
nmol/l
1.18
31
112
34
150
2.66
5.33
1.8
1.7
1361.5
1182.3
nmol/l
0.40
26
108
34
154
2.58
5.04
2.1
1.7
—
—
—
0
0
72
465
2.10
4.56
3.0
2.4
80.0
74.3
nmol/l
0.89
65
418
69
442
2.08
4.44
5.5
5.4
36.4
36.7
g/l
0.12
64
421
62
384
2.09
4.34
1.9
1.8
90.0
98.8
pmol/l
0.60
23
192
17
63
2.93
3.64
10.6
6.9
23.5
25.0
mmol/l
0.72
17
63
22
99
2.44
3.26
5.8
12.9
11.8
11.8
kpa
0.01
22
93
22
99
2.44
3.26
5.8
12.9
4.9
5.2
kpa
0.46
22
93
56
363
1.89
3.26
5.3
3.1
—
—
—
0
0
7
11
6.62
3.22
1.0
1.7
—
—
—
0
0
33
178
2.11
3.22
3.1
2.9
2.4
2.4
mmol/l
0.04
27
159
23
109
2.32
3.05
2.1
1.7
—
—
—
0
0
6
9
6.90
2.89
1.0
1.0
—
—
—
0
0
14
53
2.82
2.89
1.7
1.5
—
—
—
0
0
10
31
3.39
2.83
1.8
1.0
—
—
—
0
0
37
219
1.93
2.78
1.6
1.4
21.2
21.9
nmol/l
0.07
32
185
7
14
5.20
2.76
1.0
1.1
—
—
—
0
0
9
24
3.93
2.72
1.8
1.0
0.0
0.0
g/l
—
9
24
13
49
2.82
2.70
5.0
3.0
52.2
53.7
%
0.09
13
49
14
56
2.66
2.62
7.4
9.3
0.6
0.7
%
0.60
14
56
53
360
1.75
2.54
3.0
3.5
2.4
2.4
mmol/l
0.59
48
315
14
57
2.61
2.54
7.4
9.2
1.2
1.7
%
1.35
14
57
56
390
1.72
2.44
4.4
3.1
47.2
25.0
ng/l
0.70
44
233
7
17
4.27
2.39
1.0
1.6
—
—
—
0
0
16
73
2.34
2.31
2.3
2.2
7.9
4.9
ug/l
0.71
16
65
7
18
4.03
2.28
1.0
1.1
—
—
—
0
0
21
109
2.09
2.25
2.1
1.6
—
—
—
0
0
40
259
1.76
2.23
2.2
2.0
3.4
0.9
mg/l
0.44
28
202
8
25
3.33
2.13
1.3
1.8
—
—
—
0
0
5
10
5.14
2.09
1.0
1.1
—
—
—
0
0
8
26
3.20
2.04
2.6
2.3
—
—
—
0
0
44
303
1.65
1.94
1.5
1.3
1.1
1.7
u/ml
0.46
14
83
7
22
3.29
1.90
1.3
2.1
—
—
—
0
0
10
40
2.61
1.88
2.4
1.8
—
—
—
0
0
42
290
1.63
1.82
5.6
3.2
0.0
0.0
estimate
—
7
104
7
24
3.01
1.74
1.0
1.8
—
—
—
0
0
5
13
3.94
1.73
1.0
1.6
—
—
—
0
0
104
899
1.58
1.61
4.7
4.2
14.7
14.6
pmol/l
0.25
99
821
6
20
3.08
1.60
1.7
1.2
—
—
—
0
0
6
20
3.08
1.60
1.7
1.2
—
—
—
0
0
10
44
2.37
1.57
1.3
1.3
—
—
—
0
0
5
15
3.41
1.53
1.0
1.8
—
—
—
0
0
0
45
0.00
1.53
0.0
1.6
—
—
—
0
0
6
21
2.94
1.52
1.2
1.3
—
—
—
0
0
6
21
2.94
1.52
1.7
1.6
—
—
—
0
0
55
421
1.50
1.49
4.8
3.2
—
—
—
0
0
127
1342
0.52
1.48
30.4
17.7
134.2
137.3
g/l
1.57
127
1325
75
885
0.68
1.47
3.8
3.4
—
—
—
0
0
9
39
2.39
1.46
2.3
1.6
—
—
—
0
0
27
178
1.64
1.39
3.1
2.7
0.7
0.8
e6/l
0.14
18
90
5
17
3.01
1.37
1.4
1.3
—
—
—
0
0
26
171
1.64
1.35
3.2
2.8
6.2
3.0
e6/l
0.42
18
85
22
139
1.69
1.33
2.5
3.1
6.6
6.2
umol/l
0.07
17
116
5
19
2.69
1.22
6.2
3.4
3.9
2.9
nmol/l
—
5
19
11
57
2.01
1.20
2.1
1.6
—
—
—
0
0
20
127
1.67
1.19
6.0
6.0
—
—
—
0
0
36
268
1.46
1.09
2.8
2.6
353.6
6075.9
umol/l
1.30
29
230
9
48
1.93
1.02
1.7
1.5
—
—
—
0
0
14
84
1.74
1.02
2.6
3.9
4.0
4.8
pmol/l
1.62
14
75
117
1079
1.46
0.96
5.7
4.8
1.7
1.9
mu/l
0.68
111
999
37
290
1.37
0.84
5.6
3.0
1.1
0.2
e6/l
0.50
29
207
13
82
1.64
0.81
2.5
2.4
11.4
13.5
nmol/l
0.45
13
77
33
256
1.38
0.80
2.3
2.2
—
—
—
0
0
78
687
1.30
0.79
7.8
10.0
4.2
4.0
e9/l
0.48
78
601
6
34
1.80
0.77
1.2
1.2
—
—
—
0
0
6
34
1.80
0.77
1.2
1.2
—
—
—
0
0
64
551
1.29
0.76
5.1
3.2
0.0
0.0
estimate
—
9
103
124
1171
1.44
0.73
26.9
13.0
138.8
139.7
mmol/l
3.04
124
1144
5
26
1.96
0.71
3.2
1.6
—
93.9
—
0
5
5
26
1.96
0.71
1.2
2.9
—
—
—
0
0
5
26
1.96
0.71
1.0
1.3
—
—
—
0
0
7
42
1.70
0.69
1.6
2.1
—
—
—
0
0
12
78
1.59
0.68
1.1
1.8
—
—
—
0
0
94
1017
0.78
0.68
26.5
14.6
13.3
13.6
%
1.07
94
1002
5
28
1.81
0.67
4.6
4.7
3.3
3.5
g/l
—
5
28
124
1177
1.40
0.65
27.2
13.0
4.0
3.9
mmol/l
2.88
124
1148
63
553
1.25
0.61
6.4
4.6
0.0
0.0
estimate
—
9
103
0
22
0.00
0.60
0.0
2.0
—
13.5
—
0
22
6
35
1.74
0.58
4.3
4.2
206.2
189.1
%
—
6
35
45
511
0.83
0.45
4.2
4.1
—
—
—
0
0
0
15
0.00
0.41
0.0
4.1
—
111.7
—
0
15
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
62
562
1.18
0.41
5.3
3.2
0.0
0.0
estimate
—
8
101
12
90
1.36
0.37
5.3
3.1
—
—
—
0
0
114
1183
0.82
0.36
6.1
4.4
2.8
2.9
mmol/l
0.28
109
1107
7
53
1.34
0.31
2.3
1.5
—
—
—
0
0
113
1169
0.84
0.31
5.7
4.1
4.6
4.8
mmol/l
1.04
108
1103
16
192
0.81
0.27
3.1
4.0
23.6
19.8
%
—
9
80
12
95
1.29
0.27
1.3
1.9
—
—
—
0
0
114
1103
1.17
0.26
5.1
4.1
6.1
5.8
mmol/l
1.72
108
1032
9
73
1.25
0.26
1.1
1.3
25.8
23.0
iu/l
—
9
62
117
1201
0.86
0.24
22.2
11.7
26.0
20.4
mg/l
0.67
98
889
17
199
0.83
0.23
2.4
2.2
—
—
—
0
0
0
10
0.00
0.21
0.0
2.0
—
0.2
—
0
5
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
21
238
0.86
0.20
1.3
1.5
—
—
—
0
0
29
265
1.12
0.16
1.5
1.6
—
—
—
0
0
106
1086
0.91
0.15
22.0
10.3
87.0
87.2
ml/min/173m2
0.02
95
874
125
1270
0.87
0.15
13.2
9.8
34.0
26.8
u/l
3.04
125
1236
16
179
0.88
0.13
2.0
2.1
—
—
—
0
0
8
73
1.10
0.07
1.1
1.4
—
—
—
0
0
8
77
1.04
0.07
1.0
1.1
—
—
—
0
0
20
210
0.94
0.04
1.2
1.3
3.0
10.3
u/ml
—
8
87
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
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.8
—
—
—
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
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
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
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
2.3
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
9.3
—
0
5
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
3.7
—
—
—
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: 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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