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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

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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.

282

4. Check minimum number of events

None

282

5. Include endpoints

None

282

6. Filter based on genotype QC (FinnGen only)

282

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 282 144 138
Unadjusted period prevalence (%) 0.05 0.05 0.06
Median age at first event (years) 50.63 52.77 48.40

-FinRegistry-

Age distribution of first events

0102030405060708090050100150200250300350400AgeIndividuals

-FinnGen-

Age distribution of first events

010203040506070809005101520253035404550556065AgeIndividuals

-FinRegistry-

Year distribution of first events

19751980198519901995200020052010201520202022050100150200250300350400YearIndividuals

-FinnGen-

Year distribution of first events

1970197519851990199520002005201020152020202305101520253035404550556065YearIndividuals

-FinRegistry-

Cumulative Incidence Function

01020304050607080901000.00.10.20.30.40.50.60.70.80.91.0AgeProbability of first incidence (%)

-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
257
Matched controls
2572
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G71.08
ICD-10 Finland
Other muscular dystrophy
+∞
221.0
179
*
G72.9
ICD-10 Finland
Myopathy, unspecified
+∞
79.4
72
*
G71.9
ICD-10 Finland
Primary disorder of muscle, unspecified
+∞
57.5
53
*
G71.00
ICD-10 Finland
Muscular dystrophy benign [Becker]
+∞
55.2
51
*
Z31.5
ICD-10 Finland
Genetic counselling
16.6
44.3
74
61
G71.8
ICD-10 Finland
Other primary disorders of muscles
+∞
36.3
34
*
G71.0
ICD-10 Finland
Muscular dystrophy
+∞
30.8
29
*
G71.06
ICD-10 Finland
Muscular dystrophy severe [Duchenne]
+∞
30.8
29
*
NJ3CG
NOMESCO Finland
Extensive MRI examination of extremities with median high magnet
175.4
30.4
31
*
R1250
NOMESCO Finland
Evaluation of functional capability
18.2
25.1
39
25
G71.02
ICD-10 Finland
Muscular dystrophy facioscapulohumeral
+∞
24.4
23
*
G72.8
ICD-10 Finland
Other specified myopathies
+∞
23.3
22
*
G71.11
ICD-10 Finland
Dystrophia myotonica [Steinert]
+∞
23.3
22
*
G71.03
ICD-10 Finland
Muscular dystrophy autosomal recessive, childhood type, resembling Duchenne or Becker
+∞
23.3
22
*
NXL00
NOMESCO Finland
Biopsy of muscle
+∞
22.2
21
*
3591A
ICD-9 Finland
Muscular dystrophies and other myopathies, Hereditary progressive muscular dystrophy
+∞
21.1
20
*
J96.1
ICD-10 Finland
Chronic respiratory failure
22.1
18.1
26
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
5.0
17.5
61
150
NJ3BG
NOMESCO Finland
MRI examination of extremities with high intensity magnet
53.9
17.2
20
*
L28
ICPC
Limited function/disability (L)
4.4
17.0
68
193
N99
ICPC
Neurological disease other
23.9
15.8
22
10
M60.9
ICD-10 Finland
Myositis, unspecified
85.1
14.7
16
*
G71.25
ICD-10 Finland
Congenital muscular dystrophy NOS
+∞
14.7
14
*
33030
ICD-8 Finland
Hereditary neuromuscular disorders, Progressive muscular dystrophy
+∞
14.7
14
*
SPAT1229
SPAT
Assessment of need for aid
5.8
14.5
42
83
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
5.1
14.4
47
107
G71.18
ICD-10 Finland
Other myotonic disease
+∞
13.7
13
*
XF404
NOMESCO Finland
Ambulatory ECG
4.9
13.1
44
103
R4110
NOMESCO Finland
Physiotherapy
2.8
11.8
93
430
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
4.6
11.5
41
102
Z50.1
ICD-10 Finland
Other physical therapy
5.8
11.0
31
59
L99
ICPC
Musculoskeletal disease other
11.3
11.0
20
19
NGA20
NOMESCO Finland
Exploration of soft tissue knee or lower leg, open
62.6
10.7
12
*
G71.28
ICD-10 Finland
Other congenital myopathy
+∞
10.5
10
*
G71.12
ICD-10 Finland
Myotonia congenita
+∞
10.5
10
*
Z46.8
ICD-10 Finland
Fitting and adjustment of other specified devices
10.2
10.5
20
21
N18
ICPC
Paralysis/weakness
12.0
10.2
18
16
A28
ICPC
Limited function/disability NOS
3.5
10.2
49
160
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
5.2
10.1
31
66
XF400
NOMESCO Finland
ECG with 12 standard connections
3.1
10.0
60
230
M62.9
ICD-10 Finland
Disorder of muscle, unspecified
31.3
9.5
12
*
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
+∞
9.4
9
*
33098
ICD-8 Finland
Hereditary neuromuscular disorders, Alii definiti
+∞
9.4
9
*
L19
ICPC
Muscle symptom/complaint NOS
7.9
9.1
20
27
N28
ICPC
Limited function/disability (N)
14.7
8.8
14
10
WX1PA
NOMESCO Finland
Total body mineral density measurement with Dual energy X-ray absorptiometry (DXA)
51.8
8.7
10
*
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
2.8
8.7
60
251
M60.8
ICD-10 Finland
Other myositis
92.9
8.5
9
*
Z99.1
ICD-10 Finland
Dependence on respirator
+∞
8.4
8
*
I42.0
ICD-10 Finland
Dilated cardiomyopathy
8.6
8.2
17
21
M41.4
ICD-10 Finland
Neuromuscular scoliosis
82.3
7.5
8
*
S72.4
ICD-10 Finland
Fracture of lower end of femur
82.3
7.5
8
*
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.7
7.4
53
226
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
3.7
7.4
32
96
H02AB13
ATC
deflazacort; oral
+∞
7.3
7
*
R13
ICD-10 Finland
Dysphagia
4.1
7.1
27
72
R5140
NOMESCO Finland
Monitoring the use of the aid
3.1
6.6
37
133
I42.9
ICD-10 Finland
Cardiomyopathy, unspecified
10.4
6.6
12
12
N29
ICPC
Neurological sympt/complt other
10.4
6.6
12
12
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
2.3
6.5
63
312
G12.1
ICD-10 Finland
Other inherited spinal muscular atrophy
71.5
6.5
7
*
M33.2
ICD-10 Finland
Polymyositis
71.5
6.5
7
*
RK410
NOMESCO Finland
NA
+∞
6.3
6
*
NJ3DG
NOMESCO Finland
Very extensive MRI examination of extremities with high intensity magnet
+∞
6.3
6
*
G71.1
ICD-10 Finland
Myotonic disorders
+∞
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
24
13
20.09
30.31
1.8
1.2
8.97
8.38
u/l
0.05
18
13
36
73
5.51
17.40
2.8
1.9
454.22
302.36
ug/l
0.44
36
68
15
11
14.35
16.03
4.3
3.0
12.69
30.95
mmol/l
0.83
15
11
119
592
2.75
14.92
3.3
3.4
1566.83
1167.10
ng/l
0.23
103
485
52
167
3.59
13.87
3.2
2.7
157.05
216.06
ng/l
0.46
43
149
13
11
12.34
12.72
4.7
3.5
71.46
176.64
ug/l
1.03
13
11
158
1097
2.00
7.48
7.2
8.6
1.22
1.21
mmol/l
0.25
139
951
61
303
2.29
6.98
1.3
1.5
497.14
489.14
titre
0.02
14
70
77
422
2.13
6.92
4.2
3.7
88.17
208.75
ng/l
1.34
63
315
218
1732
2.14
6.70
6.2
7.5
80.85
84.08
u/l
0.27
206
1614
99
608
1.97
6.46
2.8
3.0
—
—
—
0
0
28
101
2.97
6.09
3.9
11.7
1.20
1.33
mg/l
0.49
28
96
44
205
2.36
5.79
5.3
9.8
1.44
1.31
mmol/l
0.35
44
196
142
1019
1.79
5.46
7.3
8.1
1.21
1.22
mmol/l
0.29
132
933
132
939
1.76
5.14
3.3
5.4
35.94
35.97
g/l
0.02
125
882
103
685
1.79
5.02
4.1
3.4
22.16
133.44
e6/l
0.62
88
526
47
239
2.16
5.02
4.3
10.6
1.24
1.11
mmol/l
0.06
38
200
77
471
1.87
4.90
3.2
2.5
5.95
4.96
e6/l
0.34
70
420
98
646
1.79
4.90
4.1
3.4
0.60
0.43
e6/l
0.24
79
483
110
752
1.76
4.85
2.7
3.3
2.37
2.36
mmol/l
0.38
100
657
115
798
1.74
4.80
4.7
4.0
43.87
71.53
e6/l
0.74
91
573
49
262
2.05
4.59
5.4
7.4
6.21
5.84
kpa
1.22
49
256
46
242
2.08
4.49
6.8
10.9
—
—
—
0
0
30
132
2.42
4.47
2.6
7.8
—
—
—
0
0
10
22
4.68
4.34
4.7
15.3
12.52
12.39
%
—
10
22
48
260
2.02
4.33
5.5
7.4
2.35
1.84
mmol/l
0.51
42
212
144
1087
1.66
4.26
6.4
10.0
0.00
0.00
e9/l
0.21
115
866
40
207
2.09
4.08
6.4
6.1
7.42
7.41
ph
—
6
15
159
1242
1.64
4.03
5.4
7.3
0.18
0.20
e9/l
0.52
140
1082
174
1391
1.66
4.02
6.4
10.2
3.94
4.04
e9/l
0.24
151
1202
40
210
2.05
3.92
6.4
6.0
5.35
5.16
kpa
0.82
40
194
42
226
2.01
3.86
5.3
7.3
5.02
4.64
kpa
0.77
42
220
154
1202
1.62
3.85
5.2
6.8
0.55
0.57
e9/l
0.81
134
1028
34
169
2.15
3.84
6.4
6.5
—
—
—
0
0
96
667
1.67
3.82
4.4
3.8
7.38
7.40
ph
0.46
14
117
154
1204
1.61
3.81
5.3
6.8
0.04
0.04
e9/l
1.40
134
1031
15
51
3.05
3.63
4.4
8.5
—
—
—
0
0
27
125
2.28
3.61
5.3
6.7
9.51
9.03
kpa
0.75
27
118
155
1228
1.58
3.52
5.3
6.8
1.87
1.87
e9/l
0.01
140
1081
31
158
2.08
3.30
1.3
1.2
105.85
161.98
iu/ml
0.46
11
62
143
1132
1.53
3.13
4.7
7.2
8.49
8.66
%
0.26
138
1064
89
636
1.58
3.07
4.1
3.2
—
—
—
0
0
45
268
1.81
3.06
5.6
7.4
—
—
—
0
0
144
1148
1.52
3.01
4.6
6.8
55.44
55.91
%
0.17
138
1082
185
1558
1.54
2.98
4.1
3.7
—
—
—
0
0
59
383
1.68
2.97
2.0
2.8
2.46
2.45
mmol/l
0.20
50
335
145
1162
1.51
2.94
4.7
7.0
29.19
28.96
%
0.08
140
1091
141
1126
1.50
2.89
4.7
6.9
2.71
2.95
%
0.74
136
1048
146
1176
1.50
2.86
5.0
7.2
12.88
12.66
umol/l
0.05
138
1109
87
628
1.56
2.84
4.1
8.4
—
—
—
0
0
202
1743
1.56
2.84
4.3
3.7
15.42
14.66
pmol/l
4.14
189
1574
12
42
2.94
2.78
5.1
9.0
65.08
63.10
%
0.14
12
42
137
1098
1.48
2.70
4.7
7.0
0.61
0.68
%
0.89
132
1027
64
435
1.61
2.69
2.9
2.8
587.37
554.88
mosm/kgh2o
0.60
57
370
18
80
2.34
2.67
2.4
1.8
7.82
8.33
u/l
0.06
11
61
178
1509
1.49
2.61
5.1
4.2
—
—
—
0
0
79
568
1.54
2.61
3.3
4.4
—
—
—
0
0
56
371
1.64
2.60
3.7
3.3
5.66
2.42
e6/l
0.81
37
194
15
62
2.50
2.58
3.0
3.0
24.64
24.77
mmol/l
0.04
15
53
160
1338
1.45
2.45
5.3
5.5
6.32
6.61
mmol/l
1.07
155
1249
251
2311
1.78
2.42
14.6
13.5
20.40
22.25
mg/l
0.40
211
1769
36
216
1.76
2.40
5.1
9.1
7.54
8.10
mmol/l
0.19
36
206
29
164
1.86
2.34
1.3
1.5
—
—
—
0
0
17
79
2.23
2.30
3.8
4.9
—
—
—
0
0
33
196
1.77
2.28
4.0
10.7
124.61
122.97
g/l
0.16
33
188
22
114
2.01
2.27
4.3
5.4
1.32
1.28
%
0.07
22
114
14
61
2.36
2.18
2.1
2.6
3.51
3.82
mmol/l
0.92
14
56
79
589
1.47
2.16
4.1
5.1
88.37
90.79
%
0.32
79
578
132
1084
1.41
2.13
4.0
3.5
0.00
0.00
estimate
0.00
19
184
54
375
1.54
2.06
1.6
1.7
1139.63
1194.00
nmol/l
0.16
43
273
73
543
1.46
2.01
2.0
2.3
2.93
3.18
mg/l
0.41
57
466
106
846
1.41
1.99
5.8
7.6
1.16
1.21
inr
0.34
28
245
129
1071
1.38
1.89
5.7
4.8
0.00
0.00
estimate
0.00
20
201
38
248
1.62
1.88
22.3
19.5
1.87
1.26
inr
—
7
31
8
28
2.91
1.87
1.3
1.2
—
—
—
0
0
11
46
2.45
1.87
4.5
2.5
—
—
—
0
0
101
808
1.39
1.85
3.3
3.5
48.18
43.12
ng/l
0.11
79
557
103
827
1.39
1.84
3.8
3.4
—
—
—
0
0
229
2101
1.48
1.80
5.2
4.4
1.95
1.91
mu/l
0.18
213
1910
128
1068
1.36
1.80
3.9
3.5
0.00
0.00
estimate
0.00
19
200
102
825
1.37
1.73
1.8
1.9
97.17
94.79
pmol/l
0.20
58
415
102
825
1.37
1.73
3.9
6.9
—
—
—
0
0
5
13
3.89
1.72
2.6
2.5
489.60
615.14
ml
—
5
7
6
19
3.20
1.67
1.0
1.2
—
—
—
0
0
31
199
1.63
1.65
1.2
1.4
—
—
—
0
0
10
44
2.32
1.55
2.0
2.5
—
—
—
0
0
7
27
2.63
1.52
1.6
1.5
—
—
—
0
0
223
2056
1.40
1.52
5.5
5.6
38.41
39.76
mmol/mol
1.42
210
1919
20
117
1.76
1.49
6.6
14.5
—
—
—
0
0
5
16
3.16
1.44
4.4
1.5
1.84
3.84
mg/l
—
5
16
39
274
1.49
1.43
1.6
1.6
—
—
—
0
0
66
514
1.37
1.39
5.6
4.8
—
—
—
0
0
187
1696
1.30
1.30
4.6
4.1
9.70
11.24
mm/h
1.23
179
1545
24
155
1.60
1.28
2.3
3.8
1.23
1.23
mmol/l
0.02
19
139
61
478
1.35
1.24
4.4
3.6
1.02
1.02
kg/l
0.03
12
62
46
344
1.40
1.23
1.2
1.3
4.94
8.44
u/ml
0.37
22
134
12
64
1.91
1.20
1.4
1.7
—
—
—
0
0
28
191
1.52
1.19
2.9
5.3
—
—
—
0
0
40
297
1.40
1.12
1.5
1.2
—
—
—
0
0
25
169
1.53
1.12
2.0
2.4
—
16.52
—
0
6
27
186
1.50
1.11
3.3
2.1
10.99
13.73
nmol/l
1.00
21
168
102
871
1.27
1.10
2.0
2.0
—
—
—
0
0
5
21
2.41
1.09
1.2
4.7
—
—
—
0
0
21
137
1.58
1.09
2.8
2.9
—
—
—
0
0
81
673
1.29
1.09
2.2
2.7
—
—
—
0
0
13
74
1.79
1.08
1.9
3.7
—
—
—
0
0
70
572
1.30
1.07
3.6
3.0
—
—
—
0
0
230
2168
1.33
1.06
4.3
4.3
5.83
5.90
mmol/l
0.33
215
1981
64
518
1.30
1.04
3.7
3.7
—
—
—
0
0
5
22
2.29
1.04
1.2
2.5
13.80
13.37
%
—
5
22
5
22
2.29
1.04
1.8
1.4
91.84
90.40
%
—
5
22
5
109
0.45
1.03
1.2
1.6
—
—
—
0
0
5
109
0.45
1.03
1.2
1.6
—
—
—
0
0
5
110
0.44
1.02
1.0
1.6
—
—
—
0
0
5
110
0.44
1.02
1.0
1.6
—
—
—
0
0
110
956
1.25
1.01
2.9
2.9
116.27
111.38
ug/l
0.10
102
876
54
432
1.31
0.96
1.6
1.7
393.44
449.61
pmol/l
0.92
45
363
6
27
2.25
0.94
3.5
2.8
—
—
—
0
0
6
27
2.25
0.94
1.3
1.4
0.15
0.28
nmol/l
—
6
20
17
110
1.58
0.93
2.9
2.3
—
—
—
0
0
5
103
0.48
0.91
1.0
1.6
—
—
—
0
0
30
221
1.40
0.90
1.1
1.2
—
—
—
0
0
35
270
1.34
0.81
1.5
1.6
—
—
—
0
0
6
33
1.84
0.79
1.3
1.2
—
—
—
0
0
19
132
1.47
0.78
2.9
2.5
—
—
—
0
0
0
28
0.00
0.76
0.0
1.3
—
—
—
0
0
13
83
1.59
0.76
1.2
1.2
—
—
—
0
0
5
24
2.10
0.75
1.2
1.3
—
—
—
0
0
7
38
1.86
0.74
2.4
3.5
—
—
—
0
0
5
25
2.02
0.73
1.2
1.2
—
—
—
0
0
5
25
2.02
0.73
1.2
4.4
—
—
—
0
0
7
39
1.81
0.73
1.1
1.7
—
—
—
0
0
5
26
1.94
0.71
2.4
2.4
—
—
—
0
0
9
58
1.57
0.70
2.9
2.7
—
—
—
0
0
11
70
1.59
0.66
1.2
1.2
—
—
—
0
0
8
127
0.62
0.65
1.5
1.2
—
—
—
0
0
211
2204
0.83
0.65
16.8
15.1
39.41
40.28
%
0.72
162
1669
5
29
1.74
0.64
1.0
1.2
—
—
—
0
0
58
494
1.22
0.63
2.2
2.6
2.73
1.29
mg/l
0.37
42
387
36
290
1.28
0.63
1.5
1.6
—
—
—
0
0
25
192
1.33
0.62
3.3
3.6
—
—
—
0
0
8
51
1.58
0.61
1.8
2.2
141.25
136.09
g/l
—
8
35
15
208
0.71
0.60
1.7
1.6
—
—
—
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
21
0.00
0.60
0.0
1.5
—
—
—
0
0
5
87
0.57
0.57
1.0
1.5
—
—
—
0
0
8
55
1.47
0.56
1.1
1.2
—
—
—
0
0
6
37
1.63
0.56
1.0
1.2
11.08
14.99
u/l
—
6
32
33
268
1.26
0.56
1.3
1.2
—
—
—
0
0
164
1542
1.15
0.54
3.0
3.5
41.78
47.67
u/l
0.49
153
1448
250
2431
1.25
0.53
13.8
12.0
—
—
—
0
0
6
39
1.55
0.53
1.3
1.0
—
—
—
0
0
9
63
1.44
0.53
1.2
1.2
—
—
—
0
0
79
705
1.17
0.52
2.3
2.7
57.04
56.36
u/l
0.08
72
648
42
355
1.22
0.51
2.8
3.1
29.99
29.80
s
0.08
42
347
15
110
1.38
0.50
2.2
1.7
15.68
24.18
iu/l
—
8
90
7
45
1.57
0.49
3.4
5.3
—
—
—
0
0
57
498
1.18
0.49
1.3
1.6
19.76
21.08
nmol/l
0.27
48
413
37
310
1.22
0.49
1.6
1.6
—
—
—
0
0
7
46
1.53
0.48
1.9
1.5
5025.71
8751.09
e6/l
—
7
33
65
575
1.17
0.48
4.1
3.8
0.00
0.02
estimate
0.50
20
194
7
48
1.47
0.47
1.1
1.2
—
—
—
0
0
34
284
1.22
0.46
1.8
4.1
6.44
8.34
umol/l
0.51
27
253
68
609
1.15
0.43
3.7
3.7
—
—
—
0
0
39
333
1.20
0.43
2.1
2.0
—
—
—
0
0
5
32
1.57
0.42
1.0
1.2
—
—
—
0
0
0
15
0.00
0.41
0.0
1.5
—
—
—
0
0
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
0
17
0.00
0.41
0.0
1.8
—
—
—
0
0
12
88
1.38
0.40
3.8
6.1
0.15
0.24
g/l
—
7
46
0
18
0.00
0.40
0.0
9.4
—
0.62
—
0
18
5
36
1.40
0.38
1.0
1.2
—
—
—
0
0
5
36
1.40
0.38
1.0
1.2
—
—
—
0
0
78
714
1.13
0.37
3.9
3.3
6.19
7.68
mmol/l
2.54
69
609
6
41
1.47
0.36
3.7
17.3
103.83
105.11
mmol/l
—
6
35
6
41
1.47
0.36
2.5
1.5
—
—
—
0
0
6
41
1.47
0.36
3.7
17.3
12.17
11.14
mmol/l
—
6
35
6
43
1.40
0.35
2.0
3.3
18.83
21.01
u/ml
—
6
43
60
661
0.88
0.34
3.5
3.9
5.15
9.60
mg/mmol
0.88
39
425
6
47
1.28
0.32
1.5
1.1
—
—
—
0
0
23
272
0.83
0.32
1.5
1.6
—
—
—
0
0
34
388
0.86
0.32
2.0
1.8
—
—
—
0
0
7
96
0.72
0.31
1.3
1.5
—
—
—
0
0
20
239
0.82
0.31
1.4
1.4
—
—
—
0
0
59
537
1.12
0.31
1.3
1.5
2.13
2.21
g/l
0.11
32
300
26
222
1.19
0.30
2.2
4.2
30.06
27.40
ug/l
0.03
20
182
64
588
1.11
0.29
1.2
1.4
—
—
—
0
0
226
2216
1.10
0.23
4.5
4.4
4.79
4.66
mmol/l
1.10
220
2060
63
587
1.09
0.22
1.3
1.4
0.69
1.89
u/ml
1.79
17
155
5
41
1.22
0.22
1.4
1.6
90.00
75.06
mmol/l
—
5
35
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
12.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
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
1.0
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
212.68
—
0
14
16
137
1.18
0.19
1.3
1.3
—
—
—
0
0
20
175
1.15
0.19
1.3
1.4
—
—
—
0
0
6
53
1.13
0.19
2.5
4.7
—
—
—
0
0
66
622
1.08
0.18
1.7
1.7
1.51
1.40
mmol/l
0.59
59
531
11
91
1.22
0.18
1.4
1.9
—
—
—
0
0
217
2134
1.07
0.16
4.0
4.0
1.38
1.28
mmol/l
0.99
210
1963
224
2206
1.07
0.16
4.3
4.4
1.48
1.46
mmol/l
0.22
217
2034
9
79
1.14
0.15
16.6
6.9
—
—
—
0
0
229
2258
1.08
0.15
4.8
4.8
2.91
2.78
mmol/l
1.23
221
2078
22
244
0.89
0.15
1.1
1.3
—
—
—
0
0
53
561
0.93
0.14
2.4
3.3
350.57
8047.04
umol/l
2.64
47
486
11
93
1.19
0.14
1.1
1.2
—
—
—
0
0
34
365
0.92
0.13
3.3
2.8
0.67
0.73
ug/l
0.23
25
238
19
171
1.12
0.13
5.2
4.8
0.00
0.15
%
—
6
54
12
104
1.16
0.12
1.2
1.1
—
—
—
0
0
20
182
1.11
0.11
5.0
4.6
1.00
0.76
%
—
7
60
77
796
0.96
0.10
2.2
2.8
—
—
—
0
0
12
106
1.14
0.10
1.5
1.6
—
—
—
0
0
10
87
1.15
0.09
1.0
1.1
—
—
—
0
0
7
66
1.06
0.08
1.0
1.3
—
—
—
0
0
6
75
0.80
0.07
2.3
2.6
—
—
—
0
0
8
74
1.08
0.07
3.0
11.8
0.95
0.93
%
—
8
68
8
74
1.08
0.07
3.0
11.8
1.64
1.62
%
—
8
68
19
177
1.08
0.06
2.6
3.2
—
—
—
0
0
61
628
0.96
0.06
3.1
3.2
25.50
156.95
mg/l
0.73
43
416
64
626
1.03
0.04
5.3
4.5
2.17
2.13
ug/l
0.04
58
560
32
309
1.04
0.04
2.1
2.7
60.96
113.32
ug/g
2.01
26
245
11
102
1.08
0.03
3.7
3.7
—
—
—
0
0
17
162
1.05
0.02
1.4
1.7
—
—
—
0
0
38
372
1.02
0.01
1.2
1.3
18.01
30.73
iu/ml
0.96
11
117
17
163
1.05
0.01
5.5
4.8
0.00
0.00
%
—
5
45
14
145
0.96
0.00
1.1
1.4
—
—
—
0
0
24
236
1.02
0.00
1.3
1.4
—
—
—
0
0
15
146
1.03
0.00
1.1
1.2
—
16.00
—
0
5
0
5
0.00
0.00
0.0
1.0
—
32.80
—
0
5
0
8
0.00
0.00
0.0
2.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
7
76
0.92
0.00
1.7
1.7
—
—
—
0
0
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
8.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
0
9
0.00
0.00
0.0
2.1
—
—
—
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
5
0.00
0.00
0.0
1.0
—
19.30
—
0
5
0
7
0.00
0.00
0.0
1.3
—
20.33
—
0
7
0
5
0.00
0.00
0.0
7.0
—
0.76
—
0
5
0
8
0.00
0.00
0.0
6.0
—
—
—
0
0
0
5
0.00
0.00
0.0
3.6
—
56.70
—
0
5
0
7
0.00
0.00
0.0
7.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0

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: 20

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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