neuromuscular disease: Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
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. |
133 |
4. Check minimum number of eventsNone |
133 |
5. Include endpointsNone |
133 |
6. Filter based on genotype QC (FinnGen only) |
133 |
Control definitions (FinnGen only)
- Control exclude
- G6_MYONEU
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
Similar endpoints
↥List of similar endpoints to
Other and unspecified myoneural disorders
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 | 1011 | 506 | 489 |
| Only index persons | 841 | 448 | 393 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 61.18 | 58.65 | 63.71 |
| Only index persons | 59.26 | 56.81 | 62.04 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 133 | 81 | 52 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.02 |
| Median age at first event (years) | 54.03 | 48.92 | 61.99 |
-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
- 119
- Matched controls
- 1192
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G70.9
ICD-10 Finland
Myoneural disorder, unspecified
+∞
121.6
95
*
N07AA02
ATC
pyridostigmine; systemic
+∞
103.9
84
*
G70.0
ICD-10 Finland
Myasthenia gravis
+∞
93.4
77
*
108
Kela drug reimbursment
Myasthenia gravis
+∞
90.5
75
*
L04AX01
ATC
azathioprine; systemic
26.9
33.4
47
28
G70.8
ICD-10 Finland
Other specified myoneural disorders
+∞
28.2
26
*
N07AA03
ATC
distigmine; systemic
297.4
24.6
24
*
R03CA02
ATC
ephedrine; oral
+∞
21.5
20
*
A12BA01
ATC
potassium chloride; oral
20.7
20.1
30
19
G70
ICD-10 Finland
Myasthenia gravis and other myoneural disorders
+∞
17.1
16
*
H02.4
ICD-10 Finland
Ptosis of eyelid
19.7
16.1
24
15
3580A
ICD-9 Finland
Myoneural disorders, Myasthenia gravis
+∞
16.0
15
*
G72.9
ICD-10 Finland
Myopathy, unspecified
+∞
14.9
14
*
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
6.9
11.8
31
58
GEC24
NOMESCO Finland
Thoracoscopic thymectomy
132.3
11.6
12
*
5872
FHL
Thymic exploration or thymectomy
+∞
11.6
11
*
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
3.6
9.8
60
260
G70.28
ICD-10 Finland
Other congenital and developmental myasthenia
+∞
9.5
9
*
G70.20
ICD-10 Finland
Congenital and developmental myasthenia
+∞
9.5
9
*
N99
ICPC
Neurological disease other
17.4
9.3
14
9
H53.2
ICD-10 Finland
Diplopia
9.2
8.4
17
21
73300
ICD-8 Finland
Other diseases of muscle, tendon and fascia, Myasthenia gravis
+∞
8.4
8
*
ZX120
NOMESCO Finland
Intravenous
5.5
8.1
24
52
GEC26
NOMESCO Finland
Mediastinoscopic thymectomy
+∞
7.4
7
*
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
5.3
7.3
22
49
H02AB07
ATC
prednisone; oral
3.8
7.1
32
106
H02AB06
ATC
prednisolone; systemic
2.8
6.7
70
405
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.7
6.6
66
371
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.8
6.6
28
88
G70.1
ICD-10 Finland
Toxic myoneural disorders
+∞
6.3
6
*
3589X
ICD-9 Finland
Myoneural disorders, unspecified
+∞
6.3
6
*
G72.8
ICD-10 Finland
Other specified myopathies
+∞
6.3
6
*
R13
ICD-10 Finland
Dysphagia
5.2
6.1
18
39
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
9
40.64
23.58
1.2
1.2
30.40
—
nmol/l
—
14
0
89
516
3.19
9.21
8.1
6.3
1.21
1.22
mmol/l
0.15
76
433
31
111
3.34
7.19
12.0
6.3
1.06
1.78
mmol/l
0.56
26
88
96
634
2.85
6.94
16.4
9.9
4.01
3.93
e9/l
0.14
89
556
79
474
2.64
6.92
8.3
5.3
1.21
1.22
mmol/l
0.10
74
435
22
67
3.74
6.47
1.9
1.4
—
—
—
0
0
18
50
4.01
5.99
1.9
1.5
—
—
—
0
0
27
102
3.07
5.67
2.4
1.9
309.56
351.34
nmol/l
0.69
27
94
18
55
3.63
5.24
6.4
2.3
5.29
5.12
kpa
0.36
18
49
5
0
+∞
5.24
1.0
0.0
—
—
—
0
0
12
27
4.79
5.15
1.3
1.0
—
—
—
0
0
34
160
2.51
4.68
2.6
1.8
29.50
28.83
s
0.26
34
155
13
34
4.13
4.66
5.5
2.5
25.38
25.06
mmol/l
0.15
13
34
8
8
10.54
4.58
1.5
1.4
—
—
—
0
0
8
8
10.54
4.58
2.5
2.5
—
—
—
0
0
64
399
2.16
4.55
2.6
2.0
98.57
96.50
pmol/l
0.09
32
200
70
452
2.16
4.55
2.4
2.3
76.71
77.35
nmol/l
0.06
65
407
28
125
2.57
4.27
2.8
6.4
1.08
1.03
mmol/l
0.23
28
114
18
67
2.95
3.84
10.5
3.9
24.16
25.24
mmol/l
0.75
18
67
42
241
2.09
3.55
1.7
1.6
1.08
1.30
mg/l
0.26
32
185
32
166
2.22
3.48
2.0
1.7
—
—
—
0
0
107
859
2.26
3.48
9.9
7.2
80.58
79.11
u/l
0.08
101
802
12
38
3.37
3.30
3.2
1.8
—
—
—
0
0
48
296
1.97
3.30
3.5
2.9
1292.91
891.69
ng/l
0.48
37
243
8
15
5.60
3.24
1.1
1.1
—
—
—
0
0
58
386
1.89
3.16
5.4
2.9
—
—
—
0
0
103
829
2.07
3.11
6.8
4.0
14.66
11.22
mm/h
1.07
97
766
7
12
6.09
3.06
1.1
1.0
—
—
—
0
0
20
89
2.47
3.05
9.9
5.0
1.30
1.19
mmol/l
0.26
20
82
5
5
10.32
3.00
1.0
1.4
—
—
—
0
0
5
5
10.32
3.00
2.0
2.8
—
—
—
0
0
20
91
2.41
2.91
2.9
2.2
4.29
4.64
ug/l
0.11
15
82
15
60
2.69
2.81
13.1
6.8
94.81
94.45
%
0.13
15
60
5
6
8.59
2.77
1.8
1.2
14.20
13.67
u/l
—
5
6
7
14
5.21
2.76
1.0
1.1
—
—
—
0
0
73
539
1.79
2.73
6.1
3.5
0.00
0.00
estimate
0.00
18
119
18
82
2.38
2.61
1.4
2.6
65.53
67.46
g/l
0.38
18
77
102
843
1.90
2.52
4.6
4.0
15.55
14.74
pmol/l
1.63
96
763
23
119
2.13
2.49
2.3
1.6
—
—
—
0
0
72
540
1.73
2.46
8.6
4.9
0.00
0.00
estimate
0.00
20
117
9
27
3.50
2.44
1.1
1.3
—
—
—
0
0
5
8
6.44
2.39
1.2
1.0
—
—
—
0
0
13
53
2.61
2.36
1.6
1.3
—
—
—
0
0
23
122
2.07
2.34
2.3
1.6
—
—
—
0
0
72
547
1.69
2.30
6.2
3.5
0.00
0.00
estimate
0.00
17
109
7
19
3.83
2.18
6.9
3.6
63.00
63.37
%
—
7
19
11
43
2.70
2.15
2.8
1.5
0.22
0.25
g/l
0.36
11
43
74
577
1.64
2.06
6.1
6.2
11.40
10.94
umol/l
0.19
69
542
9
33
2.85
1.97
1.3
1.8
—
—
—
0
0
43
295
1.68
1.96
6.3
3.6
0.00
0.00
estimate
0.00
17
111
16
79
2.17
1.95
4.1
7.9
7.00
8.69
mmol/l
0.60
16
74
6
17
3.64
1.86
1.5
1.1
—
—
—
0
0
29
181
1.77
1.83
2.0
1.7
1199.95
1242.39
nmol/l
0.11
22
141
7
23
3.15
1.82
1.7
1.3
—
—
—
0
0
8
29
2.87
1.82
1.1
1.2
—
—
—
0
0
8
29
2.87
1.82
1.1
1.2
—
—
—
0
0
56
418
1.59
1.80
4.4
3.7
905.90
35.29
ng/l
0.49
41
284
91
761
1.62
1.79
3.5
3.0
49.95
45.21
u/l
0.19
84
715
5
13
3.95
1.73
1.0
1.2
—
—
—
0
0
116
1040
1.90
1.70
21.6
12.3
86.78
82.42
ml/min/173m2
1.56
98
855
121
1101
2.10
1.68
26.4
12.9
17.58
22.31
mg/l
1.51
106
851
50
370
1.56
1.64
2.4
3.5
2.36
2.35
mmol/l
0.14
44
332
8
32
2.59
1.62
1.5
1.4
—
—
—
0
0
5
15
3.42
1.53
1.4
1.2
—
—
nmol/l
—
0
0
55
428
1.49
1.39
6.6
3.6
—
—
—
0
0
13
68
2.01
1.39
3.7
2.7
87.08
99.29
ng/l
0.17
13
58
8
34
2.44
1.31
1.4
2.0
—
—
—
0
0
20
128
1.66
1.17
4.1
4.9
29.36
32.06
%
0.75
14
81
34
249
1.49
1.13
1.8
1.6
20.05
22.03
nmol/l
0.39
25
211
12
66
1.90
1.13
1.5
1.2
23.19
122.50
u/ml
2.54
12
60
7
31
2.33
1.12
1.6
1.4
0.00
0.00
g/l
—
7
31
7
31
2.33
1.12
1.6
1.4
0.00
0.00
g/l
—
7
31
8
41
2.01
1.11
1.5
1.3
—
—
—
0
0
7
32
2.25
1.10
1.6
1.4
0.00
0.00
g/l
—
7
32
24
165
1.55
1.06
5.7
2.8
2.00
2.76
e6/l
0.30
15
80
9
49
1.90
1.01
1.1
1.3
—
—
—
0
0
7
37
1.94
0.95
1.4
1.1
—
—
—
0
0
6
27
2.28
0.95
1.3
1.4
—
—
—
0
0
6
27
2.28
0.95
1.3
1.4
—
—
—
0
0
6
28
2.20
0.93
1.2
2.1
—
—
—
0
0
33
251
1.42
0.91
3.4
2.1
—
—
—
0
0
6
34
1.80
0.77
1.0
1.1
—
—
—
0
0
26
197
1.40
0.73
1.2
1.3
1.50
6.51
u/ml
—
6
82
7
118
0.57
0.72
1.3
1.8
—
—
—
0
0
5
29
1.75
0.64
1.6
1.6
—
—
—
0
0
8
50
1.64
0.62
5.1
4.4
23.78
25.10
mmol/l
—
8
45
23
181
1.33
0.52
5.1
2.6
1.06
1.04
e6/l
0.01
15
97
30
247
1.28
0.50
1.4
1.2
0.62
0.76
u/ml
—
9
75
14
105
1.37
0.43
3.6
3.4
—
—
—
0
0
23
187
1.28
0.42
2.3
2.9
0.69
0.78
ug/l
0.27
15
121
0
15
0.00
0.41
0.0
1.2
—
3.42
—
0
5
0
16
0.00
0.41
0.0
1.0
—
—
—
0
0
108
1032
1.25
0.40
5.9
5.4
40.61
39.60
mmol/mol
0.47
103
969
75
695
1.18
0.38
3.5
3.2
—
—
—
0
0
56
507
1.18
0.38
8.9
3.9
—
—
—
0
0
17
135
1.30
0.37
17.9
7.3
—
—
—
0
0
37
323
1.20
0.37
3.8
3.9
8.90
7.53
mg/mmol
0.13
23
203
36
314
1.20
0.36
1.4
1.6
1.53
1.37
mmol/l
0.43
29
263
15
185
0.79
0.32
1.7
1.3
—
—
—
0
0
7
52
1.37
0.32
6.0
2.8
0.87
1.17
%
—
7
52
7
55
1.29
0.30
1.3
2.3
26.71
40.51
u/l
—
7
48
7
56
1.26
0.30
1.3
1.5
—
—
—
0
0
29
253
1.19
0.29
3.1
4.6
24.36
21.80
%
0.33
14
127
110
1070
1.16
0.22
4.7
4.5
6.04
5.90
mmol/l
0.57
104
983
5
42
1.20
0.21
1.6
1.5
—
—
—
0
0
14
118
1.21
0.20
1.6
1.7
—
—
—
0
0
103
1055
0.89
0.16
4.0
4.0
1.40
1.27
mmol/l
0.90
95
975
108
1099
0.91
0.11
4.4
4.5
4.60
4.66
mmol/l
0.26
103
1030
102
1004
1.07
0.08
28.7
13.8
39.33
39.84
%
0.21
73
750
14
129
1.10
0.06
1.6
1.8
—
—
—
0
0
108
1092
0.94
0.05
4.4
4.5
1.42
1.49
mmol/l
0.88
101
1013
21
200
1.06
0.04
2.1
1.5
—
—
—
0
0
112
1115
1.03
0.00
4.8
4.9
2.77
2.75
mmol/l
0.07
106
1035
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
0.00
0.0
2.2
—
13.63
—
0
9
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
7.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
5
58
0.86
0.00
1.0
1.0
—
—
—
0
0
7
70
1.00
0.00
1.3
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
96.00
—
0
5
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint G6_MYONEUOTHUNS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_MYONEUOTHUNS | 2.125 [1.59, 2.84] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.074 |
During the follow-up period (1.1.1998 — 31.12.2019), 123 out of 407 females with G6_MYONEUOTHUNS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_MYONEUOTHUNS | 2.046 [1.58, 2.65] | < 0.001 |
| Birth year | 0.986 [0.98, 1.0] | 0.004 |
During the follow-up period (1.1.1998 — 31.12.2019), 166 out of 388 males with G6_MYONEUOTHUNS died.
Mortality risk
Mortality risk for people of age
years, who have G6_MYONEUOTHUNS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.187% | 0.44% |
| 5 | 1.036% | 2.468% |
| 10 | 2.73% | 5.883% |
| 15 | 5.304% | 10.882% |
| 20 | 9.42% | 18.602% |
Relationships between endpoints
↥Index endpoint: G6_MYONEUOTHUNS – Other and unspecified myoneural disorders
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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