Hereditary motor and sensory neuropathy

G6_HEREMOSEN

charcot-marie-tooth disease, axonal, type 2t: ['Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016).']

Suggest a new description

Endpoint definition

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 G60.0
  • Hospital discharge: ICD-9 3560
  • Hospital discharge: ICD-8 33000
  • Cause of death: ICD-10 G60.0
  • Cause of death: ICD-9 3560
  • Cause of death: ICD-8 33000

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

311

4. Check minimum number of events

None

311

5. Include endpoints

None

311

6. Filter based on genotype QC (FinnGen only)

311

Control definitions (FinnGen only)

Control exclude
G6_POLYNEU

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
G60
Name in latin
Neuropathia motoria et sensoria 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 2275 1031 1229
Only index persons 2023 939 1084
Unadjusted period prevalence (%)
Whole population 0.03 0.03 0.03
Only index persons 0.04 0.03 0.04
Median age at first event (years)
Whole population 46.31 45.50 46.92
Only index persons 45.51 45.04 45.92

-FinnGen-

Key figures

All Female Male
Number of individuals 311 163 148
Unadjusted period prevalence (%) 0.06 0.06 0.07
Median age at first event (years) 48.94 45.18 53.09

-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
277
Matched controls
2769
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G60.0
ICD-10 Finland
Hereditary motor and sensory neuropathy
+∞
323.0
266
*
G62.9
ICD-10 Finland
Polyneuropathy, unspecified
239.4
97.3
95
6
Z31.5
ICD-10 Finland
Genetic counselling
14.5
40.4
71
64
G60.9
ICD-10 Finland
Hereditary and idiopathic neuropathy, unspecified
+∞
27.6
26
*
N99
ICPC
Neurological disease other
46.6
27.5
33
8
33000
ICD-8 Finland
Hereditary neuromuscular disorders, Neuropathic muscular atrophy
+∞
22.2
21
*
G62.8
ICD-10 Finland
Other specified polyneuropathies
+∞
21.1
20
*
G60.8
ICD-10 Finland
Other hereditary and idiopathic neuropathies
+∞
20.0
19
*
G60
ICD-10 Finland
Hereditary and idiopathic neuropathy
+∞
15.8
15
*
R1250
NOMESCO Finland
Evaluation of functional capability
11.4
15.1
28
27
N28
ICPC
Limited function/disability (N)
14.5
14.5
24
18
NH3AA
NOMESCO Finland
Foot and toes X-ray examination
4.9
13.0
44
103
N29
ICPC
Neurological sympt/complt other
13.2
12.9
22
18
3561A
ICD-9 Finland
Hereditary and idiopathic peripheral neuropathy, Peroneal muscular atrophy
+∞
12.6
12
*
L28
ICPC
Limited function/disability (L)
3.7
12.5
59
189
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
3.4
12.4
66
231
Q66.7
ICD-10 Finland
Pes cavus
67.9
11.7
13
*
NHL20
NOMESCO Finland
Myotomy or tenotomy of foot
+∞
11.5
11
*
NHL14
NOMESCO Finland
Shortening or lengthening of achilles tendon
125.0
11.5
12
*
SPAT1229
SPAT
Assessment of need for aid
4.8
11.5
39
92
N03AX12
ATC
gabapentin; oral
3.3
11.0
61
221
TNX33
NOMESCO Finland
Custom moulded cast, unspecified region
5.4
10.8
32
65
N94
ICPC
Peripheral neuritis/neuropathy
+∞
10.5
10
*
NHK40
NOMESCO Finland
Osteotomy or rotation osteotomy of II-V metatarsal or tarsal bone
13.8
10.3
17
13
Z50.9
ICD-10 Finland
Care involving use of rehabilitation procedure, unspecified
7.2
10.2
24
36
NHL68
NOMESCO Finland
Tenodesis, shortening or lengthening of tendon of foot
17.5
10.0
15
9
NH1AA
NOMESCO Finland
Ankle X-ray examination without contrast
4.4
9.2
33
82
Z50.1
ICD-10 Finland
Other physical therapy
4.6
8.5
29
69
G61.0
ICD-10 Finland
Guillain-Barré syndrome
+∞
8.4
8
*
N03AX16
ATC
pregabalin; oral
2.4
8.1
79
395
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
3.1
7.9
45
165
G72.9
ICD-10 Finland
Myopathy, unspecified
46.3
7.8
9
*
Z82.0
ICD-10 Finland
Family history of epilepsy and other diseases of the nervous system
46.3
7.8
9
*
NHG20
NOMESCO Finland
Fusion of talocrural joint
25.8
7.6
10
*
R4110
NOMESCO Finland
Physiotherapy
2.3
7.5
82
434
NAG62
NOMESCO Finland
Posterior fusion of lumbar spine with fixation, 2-3 vertebraea
9.8
7.4
14
15
35409
ICD-8 Finland
Polyneuritis and polyradiculitis, Unspecified
+∞
7.3
7
*
3569X
ICD-9 Finland
Hereditary and idiopathic peripheral neuropathy, Unspecified
+∞
7.3
7
*
NGA20
NOMESCO Finland
Exploration of soft tissue knee or lower leg, open
+∞
7.3
7
*
L16
ICPC
Ankle symptom/complaint
3.1
7.2
40
143
N03AE01
ATC
clonazepam; systemic
4.4
6.9
24
59
L17
ICPC
Foot/toe symptom/complaint
2.2
6.9
83
455
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
3.9
6.8
27
75
M21.5
ICD-10 Finland
Acquired clawhand, clubhand, clawfoot and clubfoot
41.1
6.8
8
*
M20.4
ICD-10 Finland
Other hammer toe(s) (acquired)
5.3
6.6
19
38
Q66.0
ICD-10 Finland
Talipes equinovarus
71.4
6.5
7
*
NXL00
NOMESCO Finland
Biopsy of muscle
71.4
6.5
7
*
L84
ICD-10 Finland
Corns and callosities
5.4
6.4
18
35
NA3AD
NOMESCO Finland
Lumbar spine and sacrum CT examination
7.3
6.3
14
20
R4120
NOMESCO Finland
Occupational therapy
3.8
6.3
25
70
G60.3
ICD-10 Finland
Idiopathic progressive neuropathy
+∞
6.3
6
*
G64
ICD-10 Finland
Other disorders of peripheral nervous system
+∞
6.3
6
*
NHL99
NOMESCO Finland
Other operation on muscle or tendon of ankle or foot
27.4
6.3
8
*
NHK30
NOMESCO Finland
Osteotomy or rotation osteotomy of first metatarsal or tarsal bone
6.5
6.3
15
24
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
3.7
6.0
25
73

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
46
138
3.74
13.48
2.0
2.4
—
—
—
0
0
158
925
2.44
13.36
2.1
1.9
102.4
97.0
pmol/l
0.68
84
495
124
732
2.15
9.45
2.4
2.1
241.4
218.5
u/l
0.19
116
691
10
15
6.85
6.35
1.1
1.1
—
—
—
0
0
23
81
2.99
5.21
2.0
2.2
190.7
314.5
ug/l
0.60
23
76
62
347
1.98
5.08
1.4
1.4
633.8
451.2
titre
0.19
13
82
156
1161
1.69
4.91
5.7
6.3
1.2
1.2
mmol/l
0.00
137
992
72
429
1.88
4.90
1.8
1.6
1091.9
1157.5
nmol/l
0.23
55
321
144
1061
1.67
4.63
5.4
5.5
1.2
1.2
mmol/l
0.18
135
965
138
1023
1.63
4.22
5.0
4.5
35.9
36.0
g/l
0.05
129
962
83
546
1.71
3.99
1.5
1.5
17.6
20.9
nmol/l
1.52
77
471
100
695
1.65
3.90
2.7
3.7
7.4
7.4
ph
0.01
12
117
226
1913
1.66
3.86
7.6
7.4
79.8
78.4
u/l
0.22
209
1791
219
1847
1.63
3.72
4.3
4.0
11.5
10.9
mm/h
0.24
195
1708
14
45
3.21
3.70
1.4
2.0
—
—
—
0
0
11
30
3.76
3.67
1.5
1.5
—
—
—
0
0
9
18
5.11
3.39
1.6
2.1
—
—
—
0
0
124
933
1.55
3.38
6.3
7.6
1.1
1.2
inr
2.86
24
282
17
67
2.63
3.18
1.3
1.3
277.7
292.4
ug/g
0.10
12
35
10
29
3.53
3.07
1.3
1.4
—
—
nmol/l
—
0
0
158
1271
1.49
3.06
5.7
5.9
0.5
0.6
e9/l
0.61
134
1104
162
1310
1.49
3.05
6.0
6.3
0.2
0.2
e9/l
0.49
139
1164
158
1274
1.49
3.00
5.8
5.9
0.0
0.0
e9/l
0.20
134
1108
6
10
6.09
2.71
1.0
1.0
136.7
129.5
nmol/l
—
6
10
91
668
1.51
2.68
3.8
2.9
—
—
—
0
0
10
32
3.20
2.67
1.4
1.4
—
—
—
0
0
159
1306
1.44
2.63
6.0
6.0
1.8
1.9
e9/l
0.81
136
1159
143
1153
1.44
2.61
6.8
6.0
0.7
0.7
%
0.03
126
1087
147
1192
1.44
2.60
7.1
6.3
8.3
8.7
%
0.58
132
1133
9
25
3.68
2.59
1.6
2.3
—
—
—
0
0
23
115
2.08
2.58
2.5
3.2
—
—
—
0
0
146
1186
1.44
2.54
6.6
6.0
2.8
2.9
%
0.11
131
1117
91
676
1.49
2.52
3.7
2.8
0.2
0.4
e6/l
1.62
76
510
13
51
2.62
2.47
1.0
1.5
—
—
—
0
0
102
780
1.46
2.43
2.3
2.2
—
—
—
0
0
44
278
1.68
2.42
2.2
1.5
—
—
—
0
0
253
2294
1.55
2.37
5.0
4.5
1.7
2.4
mu/l
0.68
231
2110
26
142
1.91
2.31
1.2
1.2
—
—
—
0
0
97
741
1.45
2.30
3.8
3.0
17.1
137.9
e6/l
0.78
77
574
147
1211
1.41
2.29
6.3
5.9
58.7
56.5
%
1.31
133
1150
287
2693
1.85
2.25
10.5
10.0
26.9
26.7
u/l
0.05
282
2608
33
197
1.76
2.23
1.7
2.7
75.4
70.9
e9/l
0.24
26
156
148
1225
1.40
2.23
7.0
6.1
27.1
28.3
%
0.61
134
1157
51
346
1.57
2.13
2.6
1.9
—
—
—
0
0
194
1694
1.39
2.05
4.9
4.0
—
—
—
0
0
87
666
1.43
2.02
3.6
2.7
—
—
—
0
0
9
32
2.87
2.01
1.7
1.4
—
—
—
0
0
75
974
0.70
1.98
2.8
2.7
—
—
—
0
0
6
16
3.80
1.94
1.5
2.4
240.8
76.6
umol/l
—
6
9
212
1887
1.39
1.94
4.1
3.8
14.9
14.7
pmol/l
0.56
189
1721
154
1305
1.36
1.92
5.8
6.3
10.4
11.3
umol/l
0.58
147
1242
140
1170
1.36
1.90
4.3
3.9
—
—
—
0
0
19
100
1.96
1.90
1.7
1.9
1.2
1.5
g/l
0.68
13
87
170
1465
1.35
1.89
7.6
9.4
4.0
4.0
e9/l
0.06
145
1285
9
34
2.69
1.88
1.2
1.5
—
—
—
0
0
35
224
1.63
1.86
5.6
3.9
2.4
2.0
mmol/l
0.18
30
169
6
17
3.58
1.84
1.2
1.1
—
—
—
0
0
16
80
2.05
1.83
1.2
1.2
—
—
—
0
0
5
12
4.22
1.83
1.4
1.5
—
—
—
0
0
104
835
1.37
1.81
6.2
5.7
—
—
—
0
0
8
29
2.80
1.80
1.4
1.2
—
—
—
0
0
271
2533
1.54
1.80
16.5
13.1
22.7
22.3
mg/l
0.05
220
2009
5
13
3.89
1.72
2.0
2.0
—
—
—
0
0
59
433
1.45
1.71
1.3
1.3
48.2
38.3
iu/ml
0.13
19
146
170
1479
1.33
1.71
5.0
4.4
6.6
6.6
mmol/l
0.07
163
1372
31
197
1.64
1.70
4.6
3.3
4.6
4.6
kpa
0.03
31
192
283
2678
1.63
1.69
14.4
11.9
—
—
—
0
0
5
131
0.37
1.67
1.6
2.7
15.4
38.8
u/ml
—
5
124
131
1106
1.32
1.59
2.7
2.5
102.2
112.9
ug/l
0.22
121
1018
70
538
1.39
1.57
1.5
1.8
0.7
1.2
mg/l
2.59
55
422
31
202
1.59
1.56
6.2
6.7
—
—
—
0
0
68
521
1.39
1.55
1.5
1.4
2.2
2.4
g/l
0.37
43
313
33
219
1.57
1.54
3.6
3.9
—
—
—
0
0
296
2844
1.85
1.53
22.2
19.1
30.1
30.3
pg
1.64
296
2811
296
2844
1.85
1.53
22.2
19.1
90.4
90.8
fl
0.84
296
2811
5
15
3.37
1.53
1.4
1.3
—
—
—
0
0
80
632
1.36
1.52
3.8
4.1
—
—
—
0
0
296
2845
1.84
1.51
22.3
19.2
4.5
4.5
e12/l
0.28
288
2771
106
874
1.32
1.51
4.5
3.5
70.5
66.1
e6/l
0.05
83
626
296
2846
1.83
1.49
22.4
19.2
6.6
6.6
e9/l
0.14
289
2772
10
45
2.26
1.48
1.5
3.4
—
—
—
0
0
66
508
1.38
1.47
3.3
2.3
9.6
6.5
e6/l
0.42
55
446
296
2848
1.82
1.46
22.5
19.3
134.8
136.7
g/l
1.47
296
2810
39
275
1.48
1.39
2.8
2.6
1.9
1.8
%
0.25
31
246
41
293
1.46
1.37
1.7
1.4
—
—
—
0
0
0
38
0.00
1.35
0.0
1.3
—
—
—
0
0
32
219
1.51
1.32
2.8
1.9
347.5
359.6
nmol/l
0.13
32
204
84
682
1.32
1.32
4.3
3.7
—
—
—
0
0
38
270
1.46
1.32
1.5
1.8
—
—
—
0
0
256
2407
1.36
1.26
4.4
4.3
5.9
5.9
mmol/l
0.17
239
2217
54
414
1.37
1.24
1.3
1.3
2.3
13.4
u/ml
2.05
19
164
27
182
1.53
1.20
2.4
2.3
4.0
4.1
e9/l
0.06
19
143
78
636
1.30
1.18
5.2
7.6
—
—
—
0
0
35
253
1.43
1.13
7.7
7.2
2.6
1.2
mmol/l
0.73
28
211
140
1234
1.24
1.12
4.2
3.5
0.0
0.0
estimate
0.00
23
227
114
982
1.25
1.11
1.8
2.0
—
—
—
0
0
14
81
1.76
1.11
2.4
3.8
0.2
0.2
g/l
—
5
34
68
550
1.30
1.10
4.5
3.5
1.0
1.0
kg/l
0.72
16
71
39
290
1.39
1.08
1.4
1.2
—
—
—
0
0
56
442
1.33
1.07
3.9
3.9
107.8
155.6
ng/l
0.30
42
337
71
580
1.29
1.06
1.3
1.3
0.6
1.5
u/ml
1.71
18
157
41
310
1.37
1.04
2.8
2.7
8.0
9.2
umol/l
0.11
36
274
58
463
1.31
1.03
1.5
1.7
456.0
9975499.5
pmol/l
0.50
50
401
137
1213
1.23
1.03
4.2
3.4
0.0
0.0
estimate
0.00
22
241
90
761
1.26
1.02
3.9
3.3
2.4
2.3
mmol/l
0.16
78
679
26
181
1.48
1.02
1.5
1.4
—
—
—
0
0
71
584
1.28
1.01
2.6
2.0
3.2
3.1
mg/l
0.15
61
502
137
1215
1.23
1.01
6.1
4.7
0.0
0.0
estimate
0.00
22
238
7
35
2.02
1.00
1.0
2.8
—
—
—
0
0
16
100
1.63
0.98
1.1
1.2
—
—
—
0
0
0
30
0.00
0.98
0.0
1.8
—
—
—
0
0
51
404
1.31
0.96
3.3
2.7
2.4
2.4
mmol/l
0.03
42
359
261
2487
1.31
0.96
4.2
4.4
4.8
4.7
mmol/l
1.27
248
2328
9
51
1.79
0.95
1.8
1.3
—
—
—
0
0
128
1136
1.22
0.92
9.2
9.6
0.0
0.0
e9/l
0.56
105
928
11
63
1.77
0.91
3.1
2.4
8.2
8.5
kpa
0.23
11
58
59
481
1.28
0.90
3.4
2.6
555.6
568.8
mosm/kgh2o
0.15
51
412
29
212
1.41
0.90
1.2
1.2
—
—
—
0
0
66
546
1.27
0.90
3.7
3.4
—
—
—
0
0
42
327
1.33
0.90
2.2
2.2
20.2
23.2
%
1.07
36
282
6
29
2.09
0.90
8.7
3.1
0.8
1.3
%
—
6
24
6
30
2.02
0.87
5.8
3.6
—
—
—
0
0
18
261
0.67
0.87
1.3
1.7
—
—
—
0
0
8
45
1.80
0.85
1.6
2.4
—
—
—
0
0
18
121
1.52
0.84
4.9
3.3
—
—
—
0
0
248
2360
1.25
0.84
15.1
13.8
39.4
40.6
%
1.04
177
1802
12
73
1.67
0.83
1.7
3.3
—
—
—
0
0
264
2532
1.28
0.82
4.8
4.8
2.9
2.8
mmol/l
0.94
246
2352
0
25
0.00
0.79
0.0
1.1
—
—
—
0
0
37
290
1.31
0.77
6.6
6.6
102.6
104.2
mmol/l
1.08
37
282
13
83
1.59
0.76
1.2
1.5
214.8
256.9
miu/ml
—
5
42
185
1721
1.19
0.75
3.5
3.7
—
—
—
0
0
5
24
2.10
0.75
1.2
2.9
—
—
—
0
0
5
24
2.10
0.75
1.0
1.2
—
—
—
0
0
5
25
2.02
0.73
1.0
1.4
—
—
—
0
0
5
25
2.02
0.73
8.4
3.7
—
—
—
0
0
10
60
1.69
0.73
1.1
1.2
—
—
—
0
0
258
2478
1.24
0.72
4.2
4.3
1.5
1.5
mmol/l
0.09
241
2306
7
43
1.64
0.67
3.4
2.3
—
—
—
0
0
11
70
1.59
0.66
5.6
4.2
—
—
—
0
0
7
44
1.60
0.65
1.1
1.0
—
—
—
0
0
250
2401
1.21
0.65
3.8
3.9
1.3
1.3
mmol/l
0.10
233
2225
22
288
0.75
0.62
1.5
1.4
—
—
—
0
0
91
809
1.18
0.62
3.6
2.5
57.2
58.2
u/l
0.10
83
750
27
210
1.31
0.61
5.3
4.4
0.7
1.0
%
—
9
65
239
2291
1.19
0.60
6.3
5.5
39.3
39.6
mmol/mol
0.14
225
2149
0
20
0.00
0.60
0.0
1.5
—
1.0
—
0
20
0
21
0.00
0.60
0.0
20.9
—
1377.8
—
0
21
24
187
1.31
0.54
3.1
3.6
—
—
—
0
0
9
61
1.49
0.54
3.7
2.1
28.4
24.6
mmol/l
—
9
51
103
936
1.15
0.53
3.6
3.6
37.8
42.3
ng/l
0.13
79
616
14
101
1.40
0.50
6.7
5.5
1.3
0.9
%
0.36
14
96
31
254
1.24
0.49
1.4
1.4
—
—
—
0
0
7
45
1.57
0.49
1.3
1.1
—
—
—
0
0
7
45
1.57
0.49
1.1
1.3
—
—
—
0
0
23
182
1.28
0.48
5.9
4.7
0.0
0.2
%
—
8
49
82
740
1.15
0.46
3.3
3.0
7.2
8.4
mmol/l
1.34
71
619
64
718
0.86
0.46
1.4
1.5
—
—
—
0
0
7
50
1.41
0.45
1.1
1.2
—
—
—
0
0
20
157
1.29
0.44
7.1
4.6
—
—
—
0
0
72
646
1.15
0.44
2.4
2.6
7152.7
5486.0
umol/l
0.09
63
563
14
104
1.36
0.44
5.9
5.4
1.3
1.5
%
0.64
14
98
36
306
1.20
0.42
1.5
1.6
—
—
—
0
0
24
292
0.81
0.41
1.5
1.3
—
—
—
0
0
5
33
1.52
0.41
1.8
1.4
0.1
0.4
nmol/l
—
5
25
0
15
0.00
0.41
0.0
7.5
—
7.4
—
0
5
0
15
0.00
0.41
0.0
1.4
—
—
—
0
0
17
132
1.30
0.41
7.8
8.4
94.4
93.7
%
0.30
17
132
0
16
0.00
0.41
0.0
1.4
—
—
—
0
0
8
61
1.32
0.40
3.6
3.5
29.9
32.3
umol/l
—
8
52
53
469
1.16
0.39
2.8
3.0
0.8
0.7
ug/l
0.06
38
288
38
328
1.18
0.38
1.3
1.2
—
—
—
0
0
56
500
1.15
0.37
1.5
1.9
—
—
—
0
0
5
37
1.36
0.37
3.0
3.9
64.7
57.8
%
—
5
37
73
665
1.13
0.36
1.8
1.7
1.4
1.4
mmol/l
0.30
59
570
77
704
1.12
0.36
3.8
3.9
18.5
10.1
mg/mmol
0.25
52
442
73
666
1.13
0.35
3.5
3.1
85.9
263.0
mg/l
0.64
49
431
22
262
0.83
0.32
3.2
4.5
9.8
23.9
ug/l
0.39
17
219
14
110
1.29
0.32
1.6
1.7
—
—
—
0
0
87
807
1.11
0.32
4.5
4.8
2.2
2.6
ug/l
0.34
77
732
23
193
1.21
0.32
6.0
4.6
0.0
0.2
%
—
7
57
10
131
0.76
0.31
1.2
1.8
—
—
—
0
0
62
569
1.11
0.28
4.4
4.9
—
—
—
0
0
9
116
0.77
0.28
1.1
1.1
—
—
—
0
0
23
196
1.19
0.28
1.3
1.4
—
—
—
0
0
9
120
0.74
0.28
1.4
1.4
—
—
—
0
0
15
181
0.82
0.26
1.5
1.4
—
—
—
0
0
17
142
1.21
0.25
4.8
6.9
24.6
25.0
mmol/l
0.21
17
142
14
115
1.23
0.24
10.1
8.1
—
—
—
0
0
14
115
1.23
0.24
5.1
3.3
1.4
1.4
%
0.01
14
115
62
667
0.91
0.23
4.4
3.7
0.0
0.0
estimate
0.68
20
233
5
38
1.32
0.23
2.0
3.4
62.6
59.8
%
—
5
38
5
38
1.32
0.23
2.2
3.3
5.0
4.9
e9/l
—
5
38
23
200
1.16
0.23
1.2
1.4
—
—
—
0
0
5
40
1.25
0.22
1.4
1.0
—
—
—
0
0
14
167
0.83
0.22
2.6
2.4
—
—
—
0
0
8
101
0.79
0.21
17.6
9.0
—
—
—
0
0
0
11
0.00
0.21
0.0
3.9
—
6.5
—
0
11
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
8
103
0.77
0.21
3.7
3.6
24.8
590.2
u/ml
—
8
89
0
12
0.00
0.21
0.0
1.5
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
6
48
1.25
0.20
2.8
2.4
4.5
4.9
kpa
—
6
48
6
48
1.25
0.20
2.8
2.4
8.5
8.7
kpa
—
6
48
0
14
0.00
0.20
0.0
1.3
—
—
—
0
0
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
11
90
1.23
0.19
1.3
1.4
—
—
—
0
0
226
2219
1.07
0.17
19.0
16.6
332.6
333.1
g/l
0.33
226
2208
10
82
1.23
0.17
1.3
1.6
—
—
—
0
0
38
350
1.10
0.17
2.4
2.2
125.6
109.6
ug/g
0.19
29
281
43
400
1.09
0.16
1.4
1.6
—
—
—
0
0
14
123
1.14
0.12
2.3
2.2
—
—
—
0
0
6
55
1.09
0.09
1.2
1.3
0.7
0.8
nmol/l
—
6
46
6
55
1.09
0.09
1.3
1.6
—
—
—
0
0
6
55
1.09
0.09
2.8
2.3
7.4
7.4
ph
—
6
48
15
136
1.11
0.08
3.2
2.6
0.2
0.1
e6/l
0.35
15
131
6
56
1.07
0.08
10.7
6.9
11.5
11.2
mmol/l
—
6
51
6
56
1.07
0.08
10.7
6.9
105.7
105.0
mmol/l
—
6
51
7
64
1.10
0.08
1.0
1.2
—
—
—
0
0
6
74
0.81
0.07
4.8
4.6
1.4
1.5
mg/l
—
6
69
20
186
1.08
0.07
4.9
4.3
0.0
0.4
%
—
5
43
16
147
1.09
0.07
1.3
1.2
—
—
—
0
0
68
699
0.97
0.06
4.5
3.1
—
—
—
0
0
11
120
0.91
0.05
1.4
1.4
—
—
—
0
0
11
119
0.92
0.04
1.4
1.4
—
—
—
0
0
11
119
0.92
0.04
1.4
1.4
—
—
—
0
0
21
201
1.05
0.03
3.4
3.3
—
—
—
0
0
23
221
1.04
0.03
9.2
7.7
120.9
123.2
g/l
0.16
23
213
27
262
1.03
0.02
1.4
1.5
—
—
—
0
0
9
89
1.01
0.00
11.7
4.5
—
—
—
0
0
7
69
1.01
0.00
1.7
1.8
—
—
—
0
0
0
5
0.00
0.00
0.0
3.0
—
41.2
—
0
5
0
6
0.00
0.00
0.0
5.2
—
25.0
—
0
6
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
6
68
0.88
0.00
1.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
34.6
—
0
5
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
3.2
—
—
—
0
0
9
92
0.98
0.00
2.1
2.6
—
—
—
0
0
0
7
0.00
0.00
0.0
2.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.8
—
4.0
—
0
6
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
11
110
1.00
0.00
1.4
1.4
—
—
—
0
0
8
85
0.94
0.00
1.1
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
5
49
1.02
0.00
3.0
4.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint G6_HEREMOSEN and mortality.

Females

Parameter HR [95% CI] p-value
G6_HEREMOSEN 1.393 [1.1, 1.76] 0.005
Birth year 0.994 [0.99, 1.0] 0.177

During the follow-up period (1.1.1998 — 31.12.2019), 103 out of 825 females with G6_HEREMOSEN died.

Males

Parameter HR [95% CI] p-value
G6_HEREMOSEN 1.226 [1.01, 1.49] 0.039
Birth year 0.985 [0.98, 0.99] 0.002

During the follow-up period (1.1.1998 — 31.12.2019), 170 out of 979 males with G6_HEREMOSEN died.

Mortality risk

Mortality risk for people of age

years, who have G6_HEREMOSEN.

N-year risk Females Males
1 0.144% 0.227%
5 0.742% 1.433%
10 1.911% 3.496%
15 3.983% 6.669%
20 6.914% 11.055%

Relationships between endpoints

Index endpoint: G6_HEREMOSEN – Hereditary motor and sensory neuropathy

GWS hits: 4

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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