Muscular dystrophy

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

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

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.

293

4. Check minimum number of events

None

293

5. Include endpoints

None

293

6. Filter based on genotype QC (FinnGen only)

283

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 283 148 135
Unadjusted period prevalence (%) 0.06 0.05 0.06
Median age at first event (years) 52.09 53.37 50.68

-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
293
Matched controls
2930
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G71.08
ICD-10 Finland
Other muscular dystrophy
+∞
254.9
206
*
G72.9
ICD-10 Finland
Myopathy, unspecified
+∞
90.4
82
*
Z31.5
ICD-10 Finland
Genetic counselling
13.5
81.2
89
92
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
14.2
47.3
46
38
G71.8
ICD-10 Finland
Other primary disorders of muscles
+∞
40.6
38
*
NJ3CG
NOMESCO Finland
Extensive MRI examination of extremities with median high magnet
+∞
36.2
34
*
G71.0
ICD-10 Finland
Muscular dystrophy
+∞
35.1
33
*
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
30.5
59
114
G72.8
ICD-10 Finland
Other specified myopathies
+∞
29.7
28
*
SPAT1229
SPAT
Assessment of need for aid
6.4
26.9
49
89
L28
ICPC
Limited function/disability (L)
4.3
26.5
88
267
G71.02
ICD-10 Finland
Muscular dystrophy facioscapulohumeral
+∞
26.5
25
*
G71.11
ICD-10 Finland
Dystrophia myotonica [Steinert]
+∞
26.5
25
*
G71.03
ICD-10 Finland
Muscular dystrophy autosomal recessive, childhood type, resembling Duchenne or Becker
+∞
25.4
24
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
4.5
24.5
72
198
NXL00
NOMESCO Finland
Biopsy of muscle
+∞
24.3
23
*
NJ3BG
NOMESCO Finland
MRI examination of extremities with high intensity magnet
124.3
21.9
23
*
3591A
ICD-9 Finland
Muscular dystrophies and other myopathies, Hereditary progressive muscular dystrophy
+∞
21.1
20
*
J96.1
ICD-10 Finland
Chronic respiratory failure
20.2
20.9
31
17
N99
ICPC
Neurological disease other
23.7
19.9
28
13
A28
ICPC
Limited function/disability NOS
3.7
18.7
72
238
R5110, ,
SPAT
5.6
17.9
36
71
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.2
15.8
78
299
33030
ICD-8 Finland
Hereditary neuromuscular disorders, Progressive muscular dystrophy
+∞
15.8
15
*
G71.18
ICD-10 Finland
Other myotonic disease
+∞
15.8
15
*
G71.25
ICD-10 Finland
Congenital muscular dystrophy NOS
+∞
15.8
15
*
Z50.1
ICD-10 Finland
Other physical therapy
5.2
14.6
32
68
Z46.8
ICD-10 Finland
Fitting and adjustment of other specified devices
12.3
14.6
26
23
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
4.7
14.5
36
85
XF404
NOMESCO Finland
Ambulatory ECG
4.0
14.4
45
127
L99
ICPC
Musculoskeletal disease other
13.6
14.2
24
19
M60.9
ICD-10 Finland
Myositis, unspecified
56.2
14.0
16
*
Z3226
NOMESCO Finland
Physiotherapist
2.8
13.7
87
381
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
3.7
13.1
46
141
L19
ICPC
Muscle symptom/complaint NOS
10.0
12.8
25
27
G71.12
ICD-10 Finland
Myotonia congenita
+∞
12.6
12
*
N18
ICPC
Paralysis/weakness
11.8
11.7
21
19
N28
ICPC
Limited function/disability (N)
20.0
11.7
17
9
G71.28
ICD-10 Finland
Other congenital myopathy
+∞
11.5
11
*
NGA20
NOMESCO Finland
Exploration of soft tissue knee or lower leg, open
62.3
10.7
12
*
R4130
NOMESCO Finland
Speech therapy
5.7
10.6
20
37
I42.0
ICD-10 Finland
Dilated cardiomyopathy
9.3
10.5
21
24
R4110
NOMESCO Finland
Physiotherapy
2.3
10.2
105
567
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
2.4
10.2
88
440
XF400
NOMESCO Finland
ECG with 12 standard connections
2.6
9.8
66
293
R13
ICD-10 Finland
Dysphagia
3.6
9.6
33
99
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.7
9.5
59
251
M62.9
ICD-10 Finland
Disorder of muscle, unspecified
31.2
9.5
12
*
M41.4
ICD-10 Finland
Neuromuscular scoliosis
103.2
9.5
10
*
G12.1
ICD-10 Finland
Other inherited spinal muscular atrophy
+∞
9.4
9
*
33098
ICD-8 Finland
Hereditary neuromuscular disorders, Alii definiti
+∞
9.4
9
*
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
+∞
9.4
9
*
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
4.3
9.2
24
59
R4120
NOMESCO Finland
Occupational therapy
3.3
8.9
35
115
M60.8
ICD-10 Finland
Other myositis
92.6
8.5
9
*
Z99.1
ICD-10 Finland
Dependence on respirator
+∞
8.4
8
*
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
3.1
8.3
37
131
Z01.8
ICD-10 Finland
Other specified special examinations
2.3
8.3
75
380
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
3.1
8.2
35
121
WX1PA
NOMESCO Finland
Total body mineral density measurement with Dual energy X-ray absorptiometry (DXA)
34.4
8.1
10
*
N29
ICPC
Neurological sympt/complt other
11.2
7.9
14
13
G71.01
ICD-10 Finland
Muscular dystrophy benign scapuloperoneal with early contractures [Emery-Dreifuss]
+∞
7.3
7
*
H02AB13
ATC
deflazacort; oral
+∞
7.3
7
*
H02AB09
ATC
hydrocortisone; systemic
4.3
7.2
19
47
S72.4
ICD-10 Finland
Fracture of lower end of femur
30.8
7.2
9
*
R1230
NOMESCO Finland
Neuropsychological evaluation of need and possibilities to rehabilitation
7.3
7.1
16
23
Z3229
NOMESCO Finland
Other healthcare associate professional
2.8
6.8
36
140
M33.2
ICD-10 Finland
Polymyositis
41.0
6.8
8
*
I42.8
ICD-10 Finland
Other cardiomyopathies
41.0
6.8
8
*
G71.1
ICD-10 Finland
Myotonic disorders
41.0
6.8
8
*
XG466
NOMESCO Finland
Sleep oxymetry
5.6
6.6
18
34
R4190
NOMESCO Finland
Nutritional therapy
3.2
6.4
25
82
RS142, ,
NOMESCO Finland
18.5
6.3
9
5
NJ3DG
NOMESCO Finland
Very extensive MRI examination of extremities with high intensity magnet
+∞
6.3
6
*
G71
ICD-10 Finland
Primary disorders of muscles
+∞
6.3
6
*

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
25
12
22.64
17.62
1.8
1.2
8.76
8.67
u/l
0.01
19
12
123
621
2.69
14.83
3.3
3.3
1531.41
1165.36
ng/l
0.21
106
513
53
174
3.50
13.63
3.1
2.6
159.41
210.57
ng/l
0.39
44
154
15
11
14.29
9.28
4.3
3.0
12.69
30.95
mmol/l
0.83
15
11
166
1151
2.02
7.93
7.0
8.5
1.22
1.22
mmol/l
0.04
147
1001
65
319
2.33
7.66
1.3
1.4
469.33
496.11
titre
0.07
15
72
13
11
12.30
7.65
4.7
3.5
71.46
176.64
ug/l
1.03
13
11
228
1803
2.19
7.27
6.1
7.6
80.98
83.89
u/l
0.25
215
1683
79
438
2.10
6.84
4.1
3.7
86.40
192.44
ng/l
1.19
65
328
47
213
2.44
6.57
5.1
9.7
1.44
1.33
mmol/l
0.32
47
208
58
290
2.25
6.48
3.5
8.0
104.60
104.06
mmol/l
0.46
58
290
51
246
2.30
6.19
4.2
10.6
1.23
1.09
mmol/l
0.07
42
209
150
1068
1.83
6.02
7.0
8.0
1.21
1.22
mmol/l
0.51
140
980
28
103
2.90
5.88
3.9
11.5
1.20
1.35
mg/l
0.60
28
98
102
651
1.87
5.77
3.0
3.0
—
—
—
0
0
116
777
1.82
5.58
2.7
3.4
2.36
2.36
mmol/l
0.28
104
682
138
975
1.79
5.54
3.3
5.4
35.94
35.95
g/l
0.01
131
919
49
248
2.17
5.28
6.6
10.9
—
—
—
0
0
103
680
1.79
5.12
4.0
3.3
0.56
0.41
e6/l
0.23
85
510
121
838
1.76
5.10
4.6
4.0
42.76
72.23
e6/l
0.85
95
600
108
726
1.77
5.03
4.0
3.4
71.22
126.96
e6/l
0.23
92
556
80
499
1.83
4.74
3.1
2.5
5.68
4.96
e6/l
0.24
73
448
31
135
2.45
4.71
2.6
7.6
—
—
—
0
0
151
1134
1.68
4.60
6.3
10.1
0.00
0.00
e9/l
0.20
122
908
50
269
2.04
4.59
5.4
7.3
6.21
5.85
kpa
1.24
50
263
168
1300
1.69
4.55
5.4
7.2
0.18
0.19
e9/l
0.39
148
1136
183
1453
1.69
4.46
6.4
10.1
3.90
4.04
e9/l
0.33
159
1259
49
269
1.99
4.24
5.4
7.3
2.30
1.87
mmol/l
0.41
43
222
162
1259
1.64
4.18
5.3
6.7
0.54
0.57
e9/l
0.95
142
1081
162
1260
1.64
4.16
5.3
6.7
0.04
0.04
e9/l
1.26
142
1082
16
52
3.20
4.15
4.2
8.2
—
—
—
0
0
41
214
2.06
4.07
6.3
6.0
7.42
7.41
ph
—
6
17
11
22
5.15
4.04
4.4
15.3
12.25
12.39
%
0.04
11
22
35
174
2.15
3.94
6.3
6.5
—
—
—
0
0
41
217
2.03
3.93
6.3
5.9
5.33
5.14
kpa
0.79
41
206
43
232
2.00
3.91
5.2
7.2
4.97
4.62
kpa
0.69
43
226
64
394
1.80
3.90
2.0
2.9
2.46
2.45
mmol/l
0.29
55
346
163
1288
1.60
3.78
5.3
6.8
1.86
1.87
e9/l
0.04
148
1138
154
1201
1.59
3.78
5.4
7.0
—
—
—
0
0
32
159
2.14
3.61
1.4
1.2
97.08
161.98
iu/ml
0.60
12
62
27
126
2.26
3.54
5.3
6.6
9.51
9.00
kpa
0.82
27
121
98
696
1.61
3.50
4.4
3.8
7.38
7.40
ph
0.47
14
124
151
1187
1.56
3.48
4.9
7.1
8.50
8.62
%
0.16
145
1115
94
665
1.61
3.39
4.0
3.2
—
—
—
0
0
152
1205
1.54
3.32
4.7
6.7
55.55
55.99
%
0.16
145
1137
93
660
1.60
3.30
3.9
8.2
—
—
—
0
0
13
43
3.12
3.29
4.8
8.9
63.23
62.93
%
0.02
13
43
153
1219
1.53
3.24
4.9
6.9
28.97
28.99
%
0.01
147
1150
149
1181
1.53
3.23
4.8
6.8
2.72
2.94
%
0.68
143
1105
145
1149
1.52
3.10
4.9
6.9
0.62
0.68
%
0.73
139
1075
19
82
2.41
2.98
2.4
1.8
7.79
8.17
u/l
0.04
12
63
36
201
1.90
2.98
3.8
10.7
125.47
122.61
g/l
0.34
36
195
169
1391
1.51
2.97
5.1
5.5
6.31
6.63
mmol/l
1.30
163
1301
210
1818
1.55
2.84
4.4
3.7
15.39
14.65
pmol/l
4.01
195
1639
59
387
1.66
2.84
3.5
3.3
5.62
2.35
e6/l
0.85
38
203
130
1023
1.49
2.79
12.0
11.7
1.31
1.22
inr
0.32
34
296
38
221
1.83
2.78
4.9
9.0
7.40
8.18
mmol/l
0.30
38
211
151
1227
1.48
2.75
5.0
7.1
12.76
12.66
umol/l
0.02
143
1160
59
391
1.64
2.73
1.6
1.7
1138.26
1195.09
nmol/l
0.18
45
286
18
80
2.33
2.66
3.7
4.9
—
—
—
0
0
186
1581
1.48
2.66
5.0
4.2
—
—
—
0
0
84
610
1.53
2.63
4.0
5.0
87.27
90.59
%
0.49
84
599
262
2409
1.83
2.62
14.8
13.6
20.06
21.99
mg/l
0.44
221
1848
23
115
2.09
2.59
4.0
5.4
0.58
0.65
%
0.36
23
115
82
597
1.52
2.53
3.3
4.3
—
—
—
0
0
189
1623
1.46
2.48
4.1
3.7
—
—
—
0
0
30
169
1.86
2.43
1.3
1.5
—
—
—
0
0
67
471
1.55
2.41
3.1
2.9
575.00
550.59
mosm/kgh2o
0.40
60
400
78
568
1.51
2.39
2.0
2.3
2.91
3.21
mg/l
0.53
60
487
15
65
2.38
2.35
2.0
2.5
3.49
3.80
mmol/l
0.98
15
59
23
120
1.99
2.33
4.1
5.2
1.30
1.27
%
0.07
23
120
110
862
1.44
2.32
1.9
2.0
97.36
95.91
pmol/l
0.12
61
437
7
19
3.75
2.16
1.4
1.6
—
—
—
0
0
107
853
1.40
2.00
3.3
3.5
47.07
43.21
ng/l
0.09
82
593
33
205
1.69
1.96
1.2
1.4
—
—
—
0
0
137
1141
1.38
1.96
4.0
3.6
0.00
0.00
estimate
-0.00
19
194
22
122
1.87
1.90
6.2
14.4
—
—
—
0
0
8
28
2.91
1.87
1.3
1.2
—
—
—
0
0
5
12
4.22
1.83
2.0
2.3
560.20
474.17
min
—
5
6
239
2197
1.48
1.82
5.3
4.4
1.95
1.90
mu/l
0.27
220
1996
8
29
2.81
1.80
1.5
1.5
—
—
—
0
0
111
906
1.36
1.76
3.9
3.3
5.58
5.90
ph
—
6
74
134
1129
1.34
1.72
5.7
4.9
0.00
0.00
estimate
-0.00
20
212
32
205
1.63
1.71
2.8
5.2
—
—
—
0
0
125
1046
1.34
1.67
2.1
2.7
—
—
—
0
0
133
1129
1.33
1.59
4.0
3.6
0.00
0.00
estimate
0.50
20
223
11
50
2.25
1.59
4.5
2.4
—
—
—
0
0
197
1770
1.34
1.58
4.6
4.1
10.37
11.20
mm/h
0.48
187
1615
233
2153
1.40
1.53
5.4
5.6
38.41
39.87
mmol/mol
1.69
218
2009
15
79
1.95
1.52
2.1
3.7
—
—
—
0
0
88
707
1.35
1.52
2.1
2.7
—
—
—
0
0
7
28
2.54
1.46
1.3
1.4
0.15
0.28
nmol/l
—
7
21
5
16
3.16
1.44
4.4
1.5
1.84
3.84
mg/l
—
5
16
5
16
3.16
1.44
2.6
2.4
489.60
582.50
ml
—
5
8
10
46
2.22
1.41
2.0
2.4
—
—
—
0
0
40
284
1.47
1.39
1.6
1.6
—
—
—
0
0
23
144
1.65
1.37
2.6
2.8
—
—
—
0
0
49
365
1.41
1.33
1.1
1.3
4.74
8.57
u/ml
0.44
23
142
69
545
1.35
1.32
3.8
3.7
—
—
—
0
0
117
1005
1.27
1.21
2.9
2.9
114.56
112.52
ug/l
0.04
109
921
42
312
1.40
1.17
1.5
1.2
—
—
—
0
0
5
111
0.44
1.15
1.0
1.6
—
—
—
0
0
5
111
0.44
1.15
1.0
1.6
—
—
—
0
0
5
20
2.52
1.15
2.0
1.5
—
—
—
0
0
12
65
1.88
1.15
1.4
1.7
—
—
—
0
0
40
299
1.39
1.08
1.6
1.6
—
—
—
0
0
240
2266
1.33
1.07
4.4
4.3
5.83
5.92
mmol/l
0.51
222
2072
57
455
1.31
1.02
1.6
1.7
392.09
444.72
pmol/l
0.89
47
383
5
110
0.45
1.02
1.2
1.6
—
—
—
0
0
5
110
0.45
1.02
1.2
1.6
—
—
—
0
0
268
2580
1.45
1.00
10.4
10.4
50.53
27.00
u/l
4.54
263
2487
18
116
1.59
0.99
2.8
2.3
—
—
—
0
0
5
23
2.19
0.98
1.2
4.7
—
—
—
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
2.6
13.80
13.31
%
—
5
23
0
31
0.00
0.97
0.0
1.2
—
—
—
0
0
62
507
1.28
0.93
4.6
3.7
1.02
1.02
kg/l
0.03
12
65
6
28
2.17
0.92
3.5
2.7
—
—
—
0
0
24
169
1.46
0.91
2.3
3.8
1.23
1.23
mmol/l
0.08
19
152
5
104
0.47
0.91
1.0
1.6
—
—
—
0
0
12
72
1.70
0.86
1.3
1.2
—
—
—
0
0
63
522
1.26
0.86
2.2
2.5
2.57
1.30
mg/l
0.35
45
408
104
913
1.22
0.84
2.0
2.1
—
—
—
0
0
31
235
1.36
0.80
1.1
1.2
—
—
—
0
0
8
48
1.69
0.79
1.8
1.5
5734.75
8557.03
e6/l
—
8
35
36
281
1.32
0.77
1.5
1.6
—
—
—
0
0
5
24
2.10
0.75
1.2
1.3
—
—
—
0
0
7
40
1.77
0.71
1.3
1.0
—
—
—
0
0
7
40
1.77
0.71
1.1
1.7
—
—
—
0
0
5
26
1.94
0.71
2.4
2.4
—
—
—
0
0
62
525
1.23
0.71
1.4
1.6
19.85
21.22
nmol/l
0.31
51
434
7
41
1.72
0.70
2.4
3.3
—
—
—
0
0
7
41
1.72
0.70
2.3
1.5
—
—
—
0
0
5
27
1.87
0.68
1.2
4.3
—
—
—
0
0
5
27
1.87
0.68
1.6
3.7
—
—
—
0
0
5
27
1.87
0.68
1.2
1.2
—
—
—
0
0
70
604
1.21
0.67
3.6
3.1
—
—
—
0
0
26
200
1.33
0.63
3.6
3.5
—
—
—
0
0
172
1610
1.17
0.62
3.0
3.5
41.76
47.62
u/l
0.50
158
1512
13
88
1.50
0.61
1.2
1.2
—
—
—
0
0
0
20
0.00
0.60
0.0
3.5
—
24.95
—
0
20
0
21
0.00
0.60
0.0
1.4
—
1.70
—
0
16
0
22
0.00
0.59
0.0
1.5
—
—
—
0
0
19
141
1.37
0.58
2.9
2.8
—
—
—
0
0
16
217
0.72
0.57
1.7
1.5
—
—
—
0
0
5
88
0.56
0.57
1.0
1.5
—
—
—
0
0
29
231
1.28
0.56
2.1
4.3
28.82
26.01
ug/l
0.04
21
193
41
342
1.23
0.55
2.0
2.0
—
—
—
0
0
260
2529
1.25
0.54
13.9
12.0
—
—
—
0
0
6
38
1.59
0.54
1.0
1.2
11.08
14.58
u/l
—
6
33
39
324
1.23
0.54
1.6
1.6
—
—
—
0
0
70
617
1.18
0.53
1.2
1.4
—
—
—
0
0
9
62
1.47
0.53
2.9
2.6
—
—
—
0
0
16
117
1.39
0.53
2.1
1.6
19.97
24.24
iu/l
—
9
96
23
179
1.31
0.53
1.5
1.4
—
—
—
0
0
9
134
0.66
0.53
1.4
1.2
—
—
—
0
0
61
694
0.85
0.52
3.4
3.8
5.88
9.82
mg/mmol
0.73
40
442
82
735
1.16
0.51
2.4
2.7
56.45
62.68
u/l
0.43
75
678
277
2720
1.34
0.48
23.3
20.1
40.24
40.42
%
0.19
267
2568
7
48
1.47
0.47
1.4
1.1
—
—
—
0
0
7
48
1.47
0.47
3.4
5.0
—
—
—
0
0
23
285
0.79
0.46
1.5
1.6
—
—
—
0
0
7
50
1.41
0.45
1.1
1.2
—
—
—
0
0
8
57
1.41
0.42
2.9
2.1
—
—
—
0
0
8
58
1.39
0.42
1.1
1.2
—
—
—
0
0
35
297
1.20
0.42
1.8
4.1
6.32
8.26
umol/l
0.56
28
265
5
33
1.52
0.41
3.0
4.9
—
—
—
0
0
5
33
1.52
0.41
1.0
1.2
—
—
—
0
0
0
16
0.00
0.41
0.0
1.2
—
243.09
—
0
16
0
17
0.00
0.41
0.0
1.3
—
3.92
—
0
10
0
17
0.00
0.41
0.0
1.8
—
—
—
0
0
0
18
0.00
0.40
0.0
9.4
—
0.62
—
0
18
0
18
0.00
0.40
0.0
1.1
—
—
—
0
0
20
247
0.80
0.40
1.3
1.4
—
—
—
0
0
33
280
1.20
0.40
1.3
1.2
—
—
—
0
0
5
35
1.44
0.39
1.0
1.1
—
—
—
0
0
0
19
0.00
0.39
0.0
1.3
—
2.69
—
0
13
9
68
1.33
0.38
1.2
1.3
—
—
—
0
0
35
405
0.85
0.37
1.9
1.8
—
—
—
0
0
6
43
1.40
0.35
3.7
16.7
12.17
11.32
mmol/l
—
6
37
6
43
1.40
0.35
3.7
16.7
103.83
105.08
mmol/l
—
6
37
77
837
0.89
0.35
2.2
2.8
—
—
—
0
0
42
369
1.16
0.35
2.8
3.1
29.99
29.72
s
0.12
42
361
71
648
1.13
0.35
3.7
3.7
—
—
—
0
0
6
46
1.31
0.33
2.0
3.2
18.83
20.49
u/ml
—
6
46
6
47
1.28
0.32
1.0
1.9
—
—
—
0
0
7
99
0.70
0.31
1.3
1.5
—
—
—
0
0
62
566
1.12
0.31
1.3
1.5
2.14
2.25
g/l
0.17
34
315
66
610
1.11
0.27
4.3
3.8
0.00
0.01
estimate
0.50
20
207
228
2231
1.10
0.25
4.0
4.0
1.37
1.29
mmol/l
0.87
218
2053
66
614
1.10
0.24
1.3
1.4
0.67
1.86
u/ml
1.85
18
159
5
38
1.32
0.23
1.0
1.2
—
—
—
0
0
5
38
1.32
0.23
1.0
1.2
—
—
—
0
0
12
97
1.25
0.23
3.8
5.8
0.15
0.23
g/l
—
7
49
12
98
1.23
0.21
1.1
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
12.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.5
—
8.42
—
0
13
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
2.03
—
0
8
79
747
1.08
0.20
3.8
3.3
6.10
7.70
mmol/l
2.95
71
636
13
109
1.20
0.19
1.5
1.6
—
—
—
0
0
62
657
0.93
0.17
3.1
3.2
26.21
152.62
mg/l
0.74
44
435
8
69
1.16
0.16
1.0
1.3
—
—
—
0
0
235
2316
1.07
0.16
4.5
4.4
4.80
4.66
mmol/l
1.24
225
2156
234
2306
1.07
0.16
4.3
4.4
1.48
1.46
mmol/l
0.18
224
2129
6
77
0.77
0.16
2.3
2.6
—
—
—
0
0
9
81
1.11
0.15
16.6
7.0
—
—
—
0
0
20
179
1.13
0.14
5.0
4.6
0.00
0.14
%
—
7
59
16
141
1.14
0.14
1.3
1.2
—
—
—
0
0
239
2360
1.07
0.14
4.7
4.8
2.92
2.78
mmol/l
1.45
228
2175
21
190
1.11
0.13
4.8
4.5
1.00
0.74
%
—
8
71
36
385
0.93
0.13
3.4
2.8
0.67
0.74
ug/l
0.26
25
250
11
95
1.16
0.12
1.4
1.8
—
—
—
0
0
67
643
1.05
0.11
1.7
1.7
1.51
1.39
mmol/l
0.65
60
547
56
585
0.95
0.10
2.4
3.3
348.80
7683.69
umol/l
2.64
50
510
5
44
1.14
0.10
1.4
1.5
90.00
74.00
mmol/l
—
5
38
34
321
1.07
0.09
2.0
2.6
60.96
112.09
ug/g
1.99
26
254
41
391
1.06
0.08
1.2
1.3
18.01
32.92
iu/ml
1.21
11
126
6
58
1.04
0.08
2.5
4.7
—
—
—
0
0
12
108
1.12
0.07
1.2
1.1
—
—
—
0
0
10
90
1.12
0.05
1.0
1.1
—
—
—
0
0
16
149
1.08
0.05
1.1
1.2
—
16.00
—
0
5
14
150
0.93
0.04
1.1
1.4
—
—
—
0
0
18
171
1.06
0.03
5.2
4.7
0.00
0.02
%
—
5
51
67
660
1.02
0.02
5.4
4.5
2.12
2.17
ug/l
0.04
60
592
18
174
1.04
0.00
1.4
1.7
—
—
—
0
0
25
256
0.97
0.00
1.2
1.3
—
—
—
0
0
17
172
0.99
0.00
5.6
4.6
2.86
0.47
%
—
7
59
11
109
1.01
0.00
3.7
3.7
—
—
—
0
0
19
189
1.01
0.00
2.6
3.2
—
—
—
0
0
25
251
1.00
0.00
1.3
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
19.30
—
0
5
8
80
1.00
-0.00
3.0
11.0
1.64
1.60
%
—
8
74
0
9
0.00
-0.00
0.0
2.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
32.80
—
0
5
0
7
0.00
-0.00
0.0
1.3
—
20.33
—
0
7
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
7.0
—
0.76
—
0
5
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.6
—
56.70
—
0
5
0
8
0.00
-0.00
0.0
8.8
—
—
—
0
0
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
8
0.00
-0.00
0.0
6.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.8
—
0.53
—
0
9
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
6.6
—
—
—
0
0
8
79
1.01
-0.00
1.6
1.7
—
—
—
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
7
0.00
-0.00
0.0
1.1
—
161.43
—
0
7
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
8
81
0.99
-0.00
3.0
11.0
0.95
0.91
%
—
8
75

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: 22

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
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FinRegistry
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FinRegistry
FinnGen
FinnGen
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