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Muscular dystrophy

DOID EFO Endpoint Browser PheWeb

G6_MUSDYST

obsolete_muscular dystrophy: ['An atrophic muscular disease that causes progressive weakness and degeneration of skeletal muscles used during voluntary movement.']

Suggest a new description

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — G71.0
  • Hospital discharge: ICD-9 — 3591A
  • Hospital discharge: ICD-8 — 33030|33090
  • Cause of death: ICD-10 — G71.0
  • Cause of death: ICD-9 — 3591A
  • Cause of death: ICD-8 — 33030|33090

2 out of 7 registries used, show all original rules.

320

4. Check minimum number of events

None

320

5. Include endpoints

None

320

6. Filter based on genotype QC (FinnGen only)

292

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
Dystrophia musculorum (progressiva hereditaria)

Case counts by codes

↥

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 2432 1004 1402
Only index persons 1905 851 1054
Unadjusted period prevalence (%)
Whole population 0.03 0.03 0.04
Only index persons 0.04 0.03 0.04
Median age at first event (years)
Whole population 41.20 48.93 35.53
Only index persons 44.75 49.50 40.91

-FinnGen-

Key figures

All Female Male
Number of individuals 292 152 140
Unadjusted period prevalence (%) 0.06 0.05 0.06
Median age at first event (years) 52.72 53.68 51.68

-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
301
Matched controls
3010
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G71.08
ICD-10 Finland
Other muscular dystrophy
+∞
264.0
213
*
G72.9
ICD-10 Finland
Myopathy, unspecified
1193.9
93.0
86
*
Z31.5
ICD-10 Finland
Genetic counselling
12.7
81.4
93
102
G71.9
ICD-10 Finland
Primary disorder of muscle, unspecified
+∞
67.3
62
*
G71.00
ICD-10 Finland
Muscular dystrophy benign [Becker]
+∞
63.9
59
*
R1250
NOMESCO Finland
Evaluation of functional capability
14.1
52.9
52
44
G71.8
ICD-10 Finland
Other primary disorders of muscles
+∞
40.5
38
*
G71.0
ICD-10 Finland
Muscular dystrophy
+∞
37.3
35
*
NJ3CG
NOMESCO Finland
Extensive MRI examination of extremities with median high magnet
+∞
36.2
34
*
G71.06
ICD-10 Finland
Muscular dystrophy severe [Duchenne]
+∞
32.9
31
*
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
6.2
32.3
63
123
G72.8
ICD-10 Finland
Other specified myopathies
+∞
30.8
29
*
G71.02
ICD-10 Finland
Muscular dystrophy facioscapulohumeral
+∞
28.6
27
*
G71.11
ICD-10 Finland
Dystrophia myotonica [Steinert]
+∞
28.6
27
*
L28
ICPC
Limited function/disability (L)
4.2
28.5
102
328
Z46.8
ICD-10 Finland
Fitting and adjustment of other specified devices
11.3
25.7
28
27
G71.03
ICD-10 Finland
Muscular dystrophy autosomal recessive, childhood type, resembling Duchenne or Becker
+∞
25.4
24
*
SPAT1229
SPAT
Assessment of need for aid
6.0
25.3
49
94
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
4.2
23.0
75
222
NXL00
NOMESCO Finland
Biopsy of muscle
124.1
21.9
23
*
N99
ICPC
Neurological disease other
20.9
21.8
32
17
NJ3BG
NOMESCO Finland
MRI examination of extremities with high intensity magnet
64.9
21.2
24
*
3591A
ICD-9 Finland
Muscular dystrophies and other myopathies, Hereditary progressive muscular dystrophy
+∞
21.1
20
*
L19
ICPC
Muscle symptom/complaint NOS
8.9
20.8
27
33
J96.1
ICD-10 Finland
Chronic respiratory failure
19.0
20.5
31
18
A28
ICPC
Limited function/disability NOS
3.4
17.7
79
286
R5110, ,
SPAT
4.3
17.6
50
132
G71.18
ICD-10 Finland
Other myotonic disease
+∞
16.8
16
*
G71.25
ICD-10 Finland
Congenital muscular dystrophy NOS
+∞
16.8
16
*
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
3.9
15.9
52
152
33030
ICD-8 Finland
Hereditary neuromuscular disorders, Progressive muscular dystrophy
+∞
15.8
15
*
Z50.1
ICD-10 Finland
Other physical therapy
5.1
15.4
34
73
L99
ICPC
Musculoskeletal disease other
12.2
15.1
27
24
M60.9
ICD-10 Finland
Myositis, unspecified
56.1
13.9
16
*
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
4.5
13.7
36
89
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
2.9
13.7
79
328
Z3226
NOMESCO Finland
Physiotherapist
2.8
13.7
89
394
XF404
NOMESCO Finland
Ambulatory ECG
3.7
13.2
45
135
N18
ICPC
Paralysis/weakness
11.2
13.0
24
23
G71.12
ICD-10 Finland
Myotonia congenita
+∞
12.6
12
*
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
2.6
12.4
98
475
R4110
NOMESCO Finland
Physiotherapy
2.4
12.0
115
609
N28
ICPC
Limited function/disability (N)
14.4
11.6
19
14
G71.28
ICD-10 Finland
Other congenital myopathy
+∞
11.5
11
*
R4130
NOMESCO Finland
Speech therapy
5.5
11.5
23
45
I42.0
ICD-10 Finland
Dilated cardiomyopathy
9.4
11.0
22
25
NGA20
NOMESCO Finland
Exploration of soft tissue knee or lower leg, open
62.3
10.7
12
*
M41.4
ICD-10 Finland
Neuromuscular scoliosis
113.8
10.5
11
*
R4120
NOMESCO Finland
Occupational therapy
3.4
10.2
39
126
R13
ICD-10 Finland
Dysphagia
3.5
9.9
36
112
M62.9
ICD-10 Finland
Disorder of muscle, unspecified
31.1
9.5
12
*
33098
ICD-8 Finland
Hereditary neuromuscular disorders, Alii definiti
+∞
9.4
9
*
Z99.1
ICD-10 Finland
Dependence on respirator
+∞
9.4
9
*
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
+∞
9.4
9
*
G12.1
ICD-10 Finland
Other inherited spinal muscular atrophy
+∞
9.4
9
*
N29
ICPC
Neurological sympt/complt other
12.0
9.2
16
14
XF400
NOMESCO Finland
ECG with 12 standard connections
2.5
9.1
66
302
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.6
9.1
60
263
Z01.8
ICD-10 Finland
Other specified special examinations
2.3
8.9
81
412
M60.8
ICD-10 Finland
Other myositis
92.5
8.5
9
*
G71.01
ICD-10 Finland
Muscular dystrophy benign scapuloperoneal with early contractures [Emery-Dreifuss]
+∞
8.4
8
*
WX1PA
NOMESCO Finland
Total body mineral density measurement with Dual energy X-ray absorptiometry (DXA)
34.4
8.1
10
*
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
3.0
7.9
37
135
G71.1
ICD-10 Finland
Myotonic disorders
46.2
7.8
9
*
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
3.0
7.5
35
127
R1230
NOMESCO Finland
Neuropsychological evaluation of need and possibilities to rehabilitation
7.1
7.4
17
25
H02AB13
ATC
deflazacort; oral
+∞
7.3
7
*
M33.2
ICD-10 Finland
Polymyositis
41.0
6.8
8
*
I42.8
ICD-10 Finland
Other cardiomyopathies
41.0
6.8
8
*
H02AB09
ATC
hydrocortisone; systemic
4.0
6.6
19
50
XG466
NOMESCO Finland
Sleep oxymetry
5.6
6.6
18
34
I42.9
ICD-10 Finland
Cardiomyopathy, unspecified
8.4
6.4
13
16
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
3.3
6.3
24
77
Z50.9
ICD-10 Finland
Care involving use of rehabilitation procedure, unspecified
3.8
6.3
19
52
RS142, ,
NOMESCO Finland
18.5
6.3
9
5
S72.4
ICD-10 Finland
Fracture of lower end of femur
18.5
6.3
9
5
SPAT1220
SPAT
Assessment of need for rehabilitation and/or rehabilitation plan
3.1
6.3
26
88
G71
ICD-10 Finland
Primary disorders of muscles
+∞
6.3
6
*
NJ3DG
NOMESCO Finland
Very extensive MRI examination of extremities with high intensity magnet
+∞
6.3
6
*
Z3229
NOMESCO Finland
Other healthcare associate professional
2.6
6.1
36
148
L29
ICPC
Musculoskeletal sympt/complt other
2.6
6.0
35
143

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
15
21.23
19.94
1.7
1.3
8.60
7.69
u/l
0.09
23
15
142
754
2.67
15.51
3.7
3.5
1360.78
1182.90
ng/l
0.11
124
626
53
184
3.28
12.41
3.2
2.8
159.41
210.75
ng/l
0.40
44
164
16
11
15.27
10.11
5.1
3.4
13.21
29.22
mmol/l
0.70
16
11
13
13
10.39
7.10
5.8
3.4
73.77
155.92
ug/l
0.87
13
13
182
1339
1.91
6.80
7.6
8.8
1.22
1.21
mmol/l
0.38
162
1171
70
383
2.08
6.20
1.3
1.4
480.00
535.63
titre
0.17
16
87
241
1985
2.07
6.04
7.4
8.4
80.43
83.95
u/l
0.35
232
1867
157
1141
1.79
5.73
3.8
5.7
35.75
36.08
g/l
0.28
149
1079
128
876
1.80
5.72
4.4
3.6
64.28
117.14
e6/l
0.27
104
667
85
513
1.92
5.66
4.7
3.9
107.83
249.70
ng/l
1.17
71
386
31
124
2.67
5.58
4.2
10.9
1.19
1.35
mg/l
0.74
31
116
115
771
1.80
5.45
4.3
3.5
0.54
0.39
e6/l
0.24
90
566
111
737
1.80
5.43
3.4
3.2
—
—
—
0
0
56
298
2.08
5.29
4.5
10.8
7.40
7.41
ph
0.71
32
155
130
913
1.75
5.20
3.1
3.4
2.37
2.36
mmol/l
0.59
119
826
55
293
2.07
5.18
4.5
10.9
1.11
0.71
mmol/l
0.27
46
259
159
1196
1.70
4.85
3.9
2.8
76.20
75.54
nmol/l
0.11
143
1057
59
332
1.97
4.77
5.6
6.7
6.15
5.80
kpa
1.38
59
325
161
1224
1.68
4.65
7.8
8.4
1.21
1.21
mmol/l
0.32
151
1133
91
598
1.75
4.48
3.4
2.7
5.37
5.37
e6/l
0.00
84
545
31
139
2.37
4.42
2.7
7.5
—
—
—
0
0
52
290
1.96
4.30
5.5
6.5
4.93
4.56
kpa
0.79
52
283
37
182
2.18
4.26
1.4
1.2
97.08
163.21
u/ml
0.63
12
69
135
999
1.64
4.20
5.3
4.4
43.74
85.73
e6/l
1.13
104
706
187
1502
1.65
4.17
6.4
7.8
0.19
0.19
e9/l
0.06
165
1300
64
387
1.83
4.13
4.4
8.1
104.50
104.19
mmol/l
0.26
64
387
181
1451
1.62
3.99
6.3
7.3
0.55
0.58
e9/l
0.73
159
1231
164
1284
1.61
3.99
9.8
12.3
0.00
0.00
e9/l
0.42
133
1035
181
1458
1.61
3.85
5.8
7.3
0.04
0.04
e9/l
1.19
159
1236
37
190
2.08
3.83
6.3
6.3
—
—
—
0
0
70
446
1.74
3.78
3.8
3.5
5.32
2.29
e6/l
0.81
40
215
51
296
1.87
3.74
7.3
11.4
—
—
—
0
0
168
1340
1.57
3.65
5.3
7.5
8.62
8.85
%
0.44
163
1260
182
1480
1.58
3.63
6.4
7.3
1.83
1.85
e9/l
0.09
165
1294
54
325
1.81
3.52
6.0
6.8
2.50
1.61
mmol/l
1.17
48
280
193
1599
1.58
3.48
7.6
11.1
3.87
4.02
e9/l
0.42
169
1383
75
498
1.67
3.47
2.7
2.8
2.46
2.45
mmol/l
0.17
66
447
43
242
1.91
3.46
6.3
5.7
7.40
7.41
ph
1.34
38
195
23
101
2.38
3.46
2.6
1.8
7.22
8.16
u/l
0.14
14
74
97
690
1.60
3.40
3.4
4.5
—
—
—
0
0
166
1338
1.54
3.32
5.3
7.3
2.92
2.94
%
0.05
161
1253
149
1175
1.53
3.29
12.5
11.8
1.29
1.19
inr
1.36
125
957
18
72
2.60
3.27
1.9
2.5
3.49
3.79
mmol/l
1.06
18
66
43
247
1.86
3.25
6.4
5.6
5.31
5.13
kpa
0.79
43
238
165
1335
1.52
3.20
5.3
7.5
0.64
0.70
%
0.78
160
1252
188
1568
1.53
3.13
5.7
5.9
6.38
6.61
mmol/l
0.83
182
1492
232
2029
1.63
3.13
4.9
4.2
15.54
14.72
pmol/l
4.66
222
1844
171
1400
1.51
3.09
5.8
7.5
12.90
12.80
umol/l
0.03
162
1328
12
36
3.43
3.05
6.2
10.6
11.88
12.17
%
0.10
12
36
107
806
1.51
2.83
4.8
4.1
7.39
7.39
ph
0.17
79
569
60
403
1.61
2.62
1.6
1.7
1138.26
1195.65
nmol/l
0.18
45
297
202
1746
1.48
2.57
5.4
4.5
—
2.26
—
0
6
24
123
2.03
2.53
2.5
2.3
—
—
—
0
0
73
519
1.54
2.49
3.1
3.0
553.73
541.25
mosm/kgh2o
0.19
68
451
124
983
1.44
2.47
4.6
7.2
—
—
—
0
0
137
1113
1.42
2.36
1.9
2.1
99.88
96.40
pmol/l
0.34
75
568
51
338
1.61
2.35
6.0
6.7
7.37
7.38
ph
0.71
36
203
91
687
1.47
2.32
4.2
5.2
86.92
90.09
%
0.46
91
677
38
234
1.71
2.31
6.9
7.6
24.86
24.10
mmol/l
0.75
38
234
34
203
1.76
2.30
1.3
1.5
—
—
—
0
0
41
259
1.67
2.27
5.0
9.0
7.28
8.30
mmol/l
0.46
41
248
7
19
3.75
2.16
3.4
1.4
2.17
3.74
mg/l
—
7
19
38
239
1.68
2.15
2.1
2.2
0.00
0.05
estimate
0.49
13
56
106
835
1.42
2.13
2.4
2.8
53.47
68.53
u/l
1.22
98
772
36
224
1.69
2.12
2.8
5.1
7.35
7.36
ph
0.11
26
154
90
690
1.43
2.09
2.2
2.4
2.86
3.04
mg/l
0.33
70
594
39
250
1.64
2.05
4.3
11.1
124.23
121.91
g/l
0.28
39
244
120
974
1.39
2.00
3.6
3.7
47.92
39.15
ng/l
0.26
96
692
9
33
2.78
1.94
1.2
1.2
—
—
—
0
0
60
431
1.49
1.94
2.2
2.6
2.51
2.34
g/l
1.21
55
398
21
114
1.91
1.92
4.3
4.6
36.94
36.97
°c
0.18
21
114
134
1114
1.37
1.91
4.1
3.4
6.30
6.22
ph
0.35
70
593
274
2580
1.69
1.86
18.6
15.6
21.43
22.50
mg/l
0.23
242
2074
5
12
4.22
1.83
1.6
1.2
—
—
—
0
0
5
12
4.22
1.83
2.0
2.5
560.20
477.50
min
—
5
6
5
12
4.22
1.83
1.6
1.2
—
—
—
0
0
5
12
4.22
1.83
1.6
1.2
—
—
—
0
0
164
1416
1.35
1.79
4.7
3.9
0.00
0.00
estimate
-0.00
30
251
258
2407
1.50
1.69
6.1
5.1
1.94
1.90
mu/l
0.21
246
2207
48
339
1.49
1.69
1.5
1.6
—
—
—
0
0
10
40
2.55
1.68
1.4
1.4
—
—
—
0
0
28
175
1.66
1.65
4.6
5.1
136.82
130.98
g/l
0.76
28
169
35
232
1.58
1.64
1.2
1.4
—
—
—
0
0
160
1391
1.32
1.60
4.6
3.8
0.00
0.00
estimate
-0.00
32
274
161
1403
1.32
1.58
4.6
3.8
0.00
5.84
estimate
0.50
31
278
5
129
0.38
1.52
1.0
1.6
—
—
—
0
0
25
155
1.67
1.52
5.0
4.8
0.56
0.60
%
0.21
25
155
9
37
2.48
1.49
1.2
1.5
0.16
0.27
nmol/l
—
9
27
78
617
1.36
1.47
5.5
5.1
—
—
—
0
0
15
80
1.92
1.47
2.3
3.8
3.44
2.35
index
—
9
51
136
1167
1.30
1.46
2.3
3.0
—
—
estimate
—
0
0
5
16
3.16
1.44
2.6
2.5
489.60
567.50
ml
—
5
8
6
136
0.43
1.44
1.3
1.6
—
—
—
0
0
6
136
0.43
1.44
1.0
1.6
—
—
—
0
0
6
136
0.43
1.44
1.0
1.6
—
—
—
0
0
61
466
1.39
1.43
2.4
2.7
13.01
13.48
umol/l
0.21
56
430
20
119
1.73
1.41
3.0
3.8
25.24
24.73
mmol/l
0.43
20
114
143
1240
1.29
1.40
3.2
3.2
124.36
112.94
ug/l
0.21
134
1155
25
159
1.62
1.40
5.1
4.8
1.26
1.25
%
0.02
25
159
11
54
2.08
1.34
4.5
2.6
—
—
—
0
0
6
135
0.43
1.30
1.3
1.6
—
—
—
0
0
99
825
1.30
1.30
2.2
2.8
—
—
—
0
0
44
324
1.42
1.27
1.7
1.7
—
—
—
0
0
103
867
1.29
1.24
4.1
7.3
—
—
—
0
0
56
432
1.36
1.24
1.2
1.3
4.26
9.58
u/ml
0.80
27
164
284
2737
1.67
1.24
23.7
19.6
57.59
75.57
umol/l
25.05
284
2704
75
607
1.31
1.21
2.1
2.4
2.24
1.42
mg/l
0.27
57
482
252
2383
1.35
1.14
6.2
6.3
37.89
39.27
mmol/mol
1.94
239
2240
79
651
1.29
1.11
4.3
3.9
—
0.00
—
0
5
116
1005
1.25
1.08
2.1
2.1
—
—
—
0
0
19
122
1.59
1.05
2.2
1.8
6.69
5.56
iu/ml
—
8
29
256
2435
1.34
1.03
5.0
5.0
5.79
5.93
mmol/l
1.02
239
2242
7
34
2.08
1.03
3.3
2.6
—
—
—
0
0
29
206
1.45
1.03
2.6
2.6
5.74
6.14
ph
2.47
17
133
5
109
0.45
1.02
1.0
1.5
—
—
—
0
0
37
276
1.39
1.02
1.2
1.2
—
—
—
0
0
118
1033
1.23
0.99
4.3
3.7
0.08
0.00
estimate
0.49
25
229
25
174
1.48
0.99
2.8
2.8
—
—
—
0
0
5
23
2.19
0.98
1.8
1.4
91.84
90.37
%
—
5
23
5
23
2.19
0.98
1.2
4.7
1.00
0.83
index
—
5
23
12
69
1.77
0.98
2.4
2.6
—
—
—
0
0
25
347
0.70
0.95
1.8
1.7
—
—
—
0
0
17
253
0.65
0.92
1.6
1.6
—
—
—
0
0
13
79
1.67
0.89
1.3
1.2
—
—
—
0
0
87
747
1.23
0.86
3.7
3.1
0.00
0.00
estimate
-0.00
24
223
89
769
1.22
0.83
4.6
3.8
0.00
0.01
estimate
0.50
32
264
8
46
1.76
0.83
2.3
3.2
—
—
—
0
0
19
130
1.49
0.83
2.3
2.3
0.00
0.02
estimate
—
9
50
41
324
1.31
0.80
1.4
1.6
—
—
—
0
0
6
33
1.83
0.79
2.0
1.8
-0.22
0.17
mmol/l
—
6
33
12
74
1.65
0.79
1.5
1.7
148.00
139.41
au/ml
—
5
31
45
361
1.29
0.79
1.4
1.3
—
—
—
0
0
87
754
1.22
0.79
1.5
1.7
20.81
20.82
nmol/l
0.00
72
624
42
335
1.29
0.77
1.8
4.1
6.59
7.60
umol/l
0.29
35
299
12
76
1.60
0.73
1.4
1.6
—
—
—
0
0
32
248
1.32
0.72
2.3
3.2
10.82
10.13
g/l
0.39
32
229
5
26
1.94
0.71
3.4
3.3
—
—
—
0
0
5
28
1.80
0.66
1.2
4.4
17.20
14.65
index
—
5
23
75
856
0.84
0.66
3.7
4.1
5.04
9.24
mg/mmol
1.08
49
540
71
614
1.20
0.66
5.0
3.8
1.02
1.02
kg/l
0.81
54
384
5
29
1.74
0.64
1.2
1.2
—
—
—
0
0
45
373
1.24
0.63
2.0
2.8
56.73
110.11
ug/g
2.84
36
292
82
723
1.18
0.62
1.3
1.4
0.66
1.86
u/ml
2.10
19
191
0
21
0.00
0.60
0.0
11.0
—
0.61
—
0
21
33
265
1.28
0.60
3.1
4.6
24.77
23.54
ug/l
0.02
25
221
8
53
1.52
0.59
1.1
1.9
—
—
—
0
0
0
23
0.00
0.58
0.0
1.3
—
2.34
—
0
15
5
87
0.57
0.57
1.0
1.1
—
0.72
—
0
11
5
87
0.57
0.57
3.0
1.8
—
—
—
0
0
13
90
1.46
0.56
1.2
1.2
—
—
—
0
0
6
37
1.63
0.56
1.0
1.2
—
—
—
0
0
6
37
1.63
0.56
1.3
1.2
—
—
—
0
0
6
38
1.59
0.54
1.0
1.3
—
—
—
0
0
9
64
1.42
0.52
1.8
1.4
5152.22
7956.18
e6/l
—
9
45
6
40
1.51
0.52
1.0
1.1
—
—
—
0
0
7
108
0.64
0.49
1.3
1.7
—
—
—
0
0
7
46
1.53
0.48
2.4
1.5
15.14
23.50
ng/l
—
7
46
7
46
1.53
0.48
1.0
1.2
—
—
—
0
0
7
46
1.53
0.48
1.0
1.2
—
—
—
0
0
7
48
1.47
0.47
1.3
1.0
—
—
—
0
0
19
147
1.31
0.46
2.4
1.7
18.36
24.84
iu/l
—
10
117
58
510
1.17
0.46
1.7
1.7
384.79
26958971.79
pmol/l
0.50
48
434
188
1791
1.13
0.46
3.3
3.7
41.82
47.63
u/l
0.54
175
1692
7
50
1.41
0.45
1.9
3.5
18.14
20.45
u/ml
—
7
50
45
388
1.19
0.45
1.5
1.6
—
—
—
0
0
45
389
1.18
0.44
2.2
2.1
—
—
—
0
0
76
839
0.87
0.44
3.4
3.5
28.00
52.67
mg/l
1.48
53
547
5
31
1.62
0.43
1.8
3.7
—
—
—
0
0
5
31
1.62
0.43
1.4
1.2
—
—
—
0
0
8
56
1.44
0.43
1.3
1.1
—
—
—
0
0
48
419
1.17
0.42
2.7
3.0
29.71
29.49
s
0.12
48
410
0
16
0.00
0.41
0.0
1.2
—
2.03
—
0
8
73
662
1.14
0.39
1.4
1.5
2.31
2.31
g/l
0.01
43
369
0
19
0.00
0.39
0.0
1.7
—
—
—
0
0
0
19
0.00
0.39
0.0
1.1
—
—
—
0
0
0
19
0.00
0.39
0.0
1.3
—
3.92
—
0
10
9
66
1.37
0.38
1.2
1.2
—
—
—
0
0
12
158
0.75
0.38
1.4
1.2
—
—
—
0
0
14
107
1.32
0.38
4.3
6.2
146.63
199.44
mg/l
—
8
52
60
663
0.88
0.35
2.7
3.4
345.33
340.77
umol/l
0.13
55
587
94
1011
0.90
0.35
2.5
3.2
—
—
—
0
0
6
43
1.40
0.35
1.0
1.2
11.08
17.28
u/l
—
6
38
28
237
1.20
0.35
8.1
5.2
0.00
0.02
%
—
9
55
6
44
1.37
0.34
3.7
16.3
12.17
11.16
mmol/l
—
6
38
6
44
1.37
0.34
3.7
16.3
103.83
104.87
mmol/l
—
6
38
14
109
1.30
0.34
2.6
8.9
1.64
1.57
%
0.17
14
101
54
487
1.13
0.32
1.3
1.3
19.76
30.25
iu/ml
0.90
16
153
18
149
1.22
0.28
1.3
1.2
—
—
—
0
0
77
716
1.10
0.27
1.3
1.4
—
—
—
0
0
41
455
0.89
0.27
3.7
3.0
0.69
0.76
ug/l
0.33
27
288
8
67
1.20
0.26
1.3
1.1
—
—
—
0
0
14
114
1.24
0.25
1.1
1.2
—
—
—
0
0
10
78
1.29
0.24
1.3
1.3
—
—
—
0
0
22
253
0.86
0.23
1.4
1.4
—
—
—
0
0
249
2532
0.90
0.23
5.9
5.8
2.89
2.72
mmol/l
1.98
240
2352
228
2231
1.09
0.23
21.4
19.8
13.73
13.58
%
0.99
228
2214
15
125
1.21
0.23
3.5
3.7
1.02
1.02
ratio
0.78
15
118
5
41
1.22
0.22
3.8
4.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.8
—
1.85
—
0
11
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
37
336
1.12
0.21
1.4
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.5
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
26
231
1.14
0.20
4.6
4.8
0.00
0.15
%
—
8
62
6
51
1.18
0.19
1.0
3.2
8.40
10.05
pmol/l
—
6
51
24
269
0.88
0.19
1.8
3.9
69.09
70.70
e9/l
0.08
19
187
27
242
1.13
0.19
4.5
4.6
0.94
0.83
%
—
9
74
7
58
1.21
0.18
1.3
1.5
93.86
70.29
mmol/l
—
7
48
269
2660
1.11
0.17
15.5
13.3
—
—
—
0
0
111
1152
0.94
0.17
2.0
2.0
1.39
1.37
mmol/l
0.08
98
970
5
69
0.72
0.17
1.6
3.0
54.40
60.29
%
—
5
69
12
101
1.20
0.17
2.2
1.7
—
—
—
0
0
33
303
1.10
0.16
1.2
1.4
—
—
—
0
0
44
471
0.92
0.16
1.9
1.9
—
—
—
0
0
9
83
1.09
0.15
17.1
7.2
—
—
—
0
0
23
208
1.11
0.14
1.4
1.8
—
—
—
0
0
10
84
1.20
0.14
1.9
2.6
—
—
—
0
0
226
2228
1.06
0.13
24.4
20.4
330.75
332.92
g/l
3.14
226
2217
25
230
1.09
0.12
4.6
4.6
2.33
0.53
%
—
9
66
285
2832
1.12
0.11
28.7
23.7
90.87
90.46
fl
0.74
285
2803
246
2485
0.94
0.11
5.1
5.1
1.48
1.46
mmol/l
0.28
239
2306
77
743
1.05
0.11
5.8
5.2
2.09
2.61
ug/l
0.43
70
665
285
2834
1.11
0.09
28.7
23.6
30.07
30.18
pg
0.43
285
2805
285
2834
1.11
0.09
29.4
24.4
40.71
40.64
%
0.10
285
2803
6
57
1.05
0.08
1.0
1.7
—
—
—
0
0
6
57
1.05
0.08
1.0
1.7
—
—
—
0
0
6
57
1.05
0.08
1.0
1.7
—
—
—
0
0
6
57
1.05
0.08
1.0
1.7
—
—
—
0
0
285
2836
1.09
0.08
29.1
24.0
135.22
136.15
g/l
0.53
285
2806
8
90
0.89
0.07
1.1
1.1
1.62
1.55
g/l
—
8
90
8
95
0.84
0.06
1.3
1.2
0.98
0.89
g/l
—
8
95
11
100
1.10
0.05
2.5
9.4
0.86
0.90
%
0.14
11
91
248
2494
0.97
0.05
5.3
5.2
4.81
4.62
mmol/l
2.11
240
2331
11
101
1.09
0.04
1.1
1.3
—
—
—
0
0
15
141
1.07
0.03
1.1
1.1
—
—
—
0
0
28
289
0.97
0.02
1.3
1.5
—
—
—
0
0
239
2380
1.02
0.02
4.4
4.3
1.37
1.29
mmol/l
0.97
230
2198
95
941
1.01
0.01
4.0
3.6
6.13
7.82
mmol/l
3.90
84
798
13
124
1.05
0.00
1.5
1.6
—
—
—
0
0
21
209
1.01
0.00
1.9
1.9
1.03
1.08
g/l
0.13
21
196
17
167
1.02
0.00
1.1
1.2
—
16.00
—
0
5
20
205
0.97
0.00
2.6
3.4
—
—
—
0
0
10
104
0.96
0.00
1.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
60.17
—
0
6
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.8
—
105.60
—
0
5
0
9
0.00
-0.00
0.0
2.1
—
2.33
—
0
9
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
6
62
0.97
-0.00
2.5
4.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.5
—
21.29
—
0
8
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
19.30
—
0
5
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
7.0
—
5.21
—
0
8
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
58.67
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
32.80
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
139.00
—
0
5
0
8
0.00
-0.00
0.0
8.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
0.54
—
0
5

Mortality – FinRegistry

↥

Association

Association between endpoint G6_MUSDYST and mortality.

Females

Parameter HR [95% CI] p-value
G6_MUSDYST 2.114 [1.67, 2.68] < 0.001
Birth year 0.992 [0.98, 1.0] 0.093

During the follow-up period (1.1.1998 — 31.12.2019), 115 out of 684 females with G6_MUSDYST died.

Males

Parameter HR [95% CI] p-value
G6_MUSDYST 1.948 [1.55, 2.44] < 0.001
Birth year 0.989 [0.98, 1.0] 0.019

During the follow-up period (1.1.1998 — 31.12.2019), 174 out of 857 males with G6_MUSDYST died.

Mortality risk

Mortality risk for people of age

years, who have G6_MUSDYST.

N-year risk Females Males
1 0.191% 0.467%
5 1.208% 2.381%
10 3.093% 5.877%
15 5.646% 10.977%
20 9.656% 18.189%

Relationships between endpoints

↥

Index endpoint: G6_MUSDYST – Muscular dystrophy

GWS hits: 25

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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