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).']
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
352 |
4. Check minimum number of eventsNone |
352 |
5. Include endpointsNone |
352 |
6. Filter based on genotype QC (FinnGen only) |
319 |
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
Similar endpoints
↥List of similar endpoints to
Hereditary motor and sensory neuropathy
based on the number of shared cases.
Similar with more cases:
- Polyneuropathies and other disorders of the peripheral nervous system
- Neurological diseases
- Neurological diseases, wide definition
- Any prescribed medicine buy
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
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 | 319 | 170 | 149 |
| Unadjusted period prevalence (%) | 0.06 | 0.06 | 0.07 |
| Median age at first event (years) | 48.97 | 45.26 | 53.21 |
-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
- 329
- Matched controls
- 3290
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G60.0
ICD-10 Finland
Hereditary motor and sensory neuropathy
+∞
307.7
316
*
G62.9
ICD-10 Finland
Polyneuropathy, unspecified
228.6
120.6
118
8
Z31.5
ICD-10 Finland
Genetic counselling
12.9
86.7
97
103
N28
ICPC
Limited function/disability (N)
21.8
48.3
37
19
N99
ICPC
Neurological disease other
71.6
43.6
49
8
G60.9
ICD-10 Finland
Hereditary and idiopathic neuropathy, unspecified
+∞
32.9
31
*
R1250
NOMESCO Finland
Evaluation of functional capability
10.3
32.4
38
41
G62.8
ICD-10 Finland
Other specified polyneuropathies
318.7
29.3
29
*
L28
ICPC
Limited function/disability (L)
3.8
25.6
99
331
33000
ICD-8 Finland
Hereditary neuromuscular disorders, Neuropathic muscular atrophy
+∞
24.3
23
*
SPAT1229
SPAT
Assessment of need for aid
5.4
21.3
46
97
TNX33
NOMESCO Finland
Custom moulded cast, unspecified region
6.1
21.1
39
71
G60.8
ICD-10 Finland
Other hereditary and idiopathic neuropathies
+∞
20.0
19
*
NH3AA
NOMESCO Finland
Foot and toes X-ray examination
4.3
20.0
58
156
NH1AA
NOMESCO Finland
Ankle X-ray examination without contrast
4.7
19.7
50
121
G60
ICD-10 Finland
Hereditary and idiopathic neuropathy
+∞
18.9
18
*
Z50.1
ICD-10 Finland
Other physical therapy
5.7
18.6
37
72
N94
ICPC
Peripheral neuritis/neuropathy
189.8
17.7
18
*
N29
ICPC
Neurological sympt/complt other
15.0
17.6
29
21
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
3.1
15.5
76
287
R5110, ,
SPAT
3.7
13.5
47
143
L17
ICPC
Foot/toe symptom/complaint
2.4
13.3
129
686
A28
ICPC
Limited function/disability NOS
2.9
13.3
74
299
Q66.7
ICD-10 Finland
Pes cavus
72.7
12.7
14
*
3561A
ICD-9 Finland
Hereditary and idiopathic peripheral neuropathy, Peroneal muscular atrophy
+∞
12.6
12
*
N03AX12
ATC
[U] gabapentin; oral
2.7
11.5
73
315
NHU20
NOMESCO Finland
Removal of internal fixation device from ankle or foot
5.4
11.4
23
45
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
4.0
11.2
33
89
M20.4
ICD-10 Finland
Other hammer toe(s) (acquired)
5.1
11.1
24
50
TNX50
NOMESCO Finland
Removal of cutom molded cast and internal stretch
4.5
11.0
28
67
Z82.0
ICD-10 Finland
Family history of epilepsy and other diseases of the nervous system
44.9
11.0
13
*
NHL20
NOMESCO Finland
Myotomy or tenotomy of foot
29.1
10.8
14
5
N03AX16
ATC
[U] pregabalin
2.4
10.6
92
458
M21.5
ICD-10 Finland
Acquired clawhand, clubhand, clawfoot and clubfoot
+∞
10.5
10
*
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
3.9
10.2
31
85
SPAT1215
SPAT
Assessment of need for medical rehabilitation
4.6
10.2
25
58
Z50.9
ICD-10 Finland
Care involving use of rehabilitation procedure, unspecified
4.1
10.2
29
76
L16
ICPC
Ankle symptom/complaint
2.8
10.0
57
231
Z3226
NOMESCO Finland
Physiotherapist
2.5
9.9
76
357
NHG20
NOMESCO Finland
Fusion of talocrural joint
31.0
9.5
12
*
NHK40
NOMESCO Finland
Osteotomy or rotation osteotomy of II-V metatarsal or tarsal bone
9.1
9.4
19
22
R4120
NOMESCO Finland
Occupational therapy
3.4
9.4
36
116
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.6
9.3
58
246
L84
ICD-10 Finland
Corns and callosities
4.5
9.3
23
54
N03AE01
ATC
clonazepam; systemic
3.9
9.2
28
77
N02BF01
ATC
gabapentin; oral
2.9
9.0
45
170
N18
ICPC
Paralysis/weakness
9.9
8.9
17
18
NHL14
NOMESCO Finland
Shortening or lengthening of achilles tendon
16.8
8.6
13
8
G61.0
ICD-10 Finland
Guillain-Barré syndrome
92.3
8.5
9
*
G64
ICD-10 Finland
Other disorders of peripheral nervous system
92.3
8.5
9
*
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
3.0
8.4
39
141
NHL68
NOMESCO Finland
Tenodesis, shortening or lengthening of tendon of foot
11.2
8.4
15
14
3569X
ICD-9 Finland
Hereditary and idiopathic peripheral neuropathy, Unspecified
+∞
8.4
8
*
G60.3
ICD-10 Finland
Idiopathic progressive neuropathy
+∞
8.4
8
*
TNX32
NOMESCO Finland
Custom moulded splint, unspecified region
4.2
8.2
22
55
Q66.0
ICD-10 Finland
Talipes equinovarus
34.3
8.1
10
*
R4110
NOMESCO Finland
Physiotherapy
2.1
8.1
104
601
M79.6
ICD-10 Finland
Pain in limb
1.9
8.0
158
1059
Z46.9
ICD-10 Finland
Fitting and adjustment of unspecified device
12.2
7.6
13
11
NHG22
NOMESCO Finland
Fusion of subtalar joint
25.7
7.6
10
*
M05BA04
ATC
alendronic acid; oral
3.3
7.6
29
93
Z01.8
ICD-10 Finland
Other specified special examinations
2.1
7.5
83
452
G12.8
ICD-10 Finland
Other spinal muscular atrophies and related syndromes
81.9
7.4
8
*
NH1FA
NOMESCO Finland
Weight-bearing X-ray of ankle
13.8
7.4
12
9
W01
ICD-10 Finland
Fall on same level from slipping, tripping and stumbling
2.0
7.4
110
666
3560A
ICD-9 Finland
Hereditary and idiopathic peripheral neuropathy, Hereditary peripheral neuropathy
+∞
7.3
7
*
35409
ICD-8 Finland
Polyneuritis and polyradiculitis, Unspecified
+∞
7.3
7
*
TQW40
NOMESCO Finland
Remowal of suture of skin
3.1
7.2
31
107
R5130
NOMESCO Finland
Repair work or maintenance done on the aid
4.0
6.9
20
53
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
3.7
6.8
22
63
NHL99
NOMESCO Finland
Other operation on muscle or tendon of ankle or foot
17.1
6.8
10
6
A46
ICD-10 Finland
Erysipelas
2.3
6.8
56
270
N03AF01
ATC
carbamazepine; oral, rectal
3.4
6.6
24
75
N02AE01
ATC
buprenorphine; parenteral, sublingual, transdermal
2.4
6.5
49
227
NGA20
NOMESCO Finland
Exploration of soft tissue knee or lower leg, open
71.2
6.4
7
*
G72.9
ICD-10 Finland
Myopathy, unspecified
11.3
6.3
11
10
M48.0
ICD-10 Finland
Spinal stenosis
2.4
6.2
46
211
TNH33
NOMESCO Finland
Custom moulded brace, ankle or foot
8.8
6.1
12
14
NA3AD
NOMESCO Finland
Lumbar spine and sacrum CT examination
5.7
6.1
16
29
TAB00
NOMESCO Finland
Lumbar puncture
3.2
6.1
24
79
J01MA12
ATC
levofloxacin; systemic
2.1
6.0
65
348
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
58
208
3.17
12.81
1.9
2.6
67.68
66.92
g/l
0.36
53
196
186
1218
2.21
11.18
2.3
2.0
100.22
97.08
pmol/l
0.42
109
651
145
870
2.19
10.75
2.6
2.2
229.47
210.75
u/l
0.18
136
829
14
15
9.69
7.35
1.0
1.0
—
—
—
0
0
172
1218
1.86
7.09
5.2
4.9
35.92
36.06
g/l
0.11
164
1157
29
101
3.05
6.66
1.9
2.1
201.36
321.82
ug/l
0.70
29
96
21
61
3.61
6.40
1.4
1.8
2.87
12.55
e6/l
0.44
15
47
257
2160
1.87
5.20
8.7
8.3
78.89
78.89
u/l
0.00
246
2046
75
446
1.88
5.11
1.8
1.6
1091.85
1146.25
nmol/l
0.20
59
334
165
1246
1.65
4.76
6.6
6.3
1.22
1.21
mmol/l
0.45
160
1154
178
1383
1.63
4.49
6.8
7.0
1.21
1.21
mmol/l
0.26
163
1214
8
10
8.16
4.08
1.3
1.4
—
—
—
0
0
12
27
4.57
3.97
1.0
1.1
—
—
—
0
0
164
1280
1.56
3.85
10.0
11.4
1.16
1.19
inr
0.43
132
1053
113
810
1.60
3.83
1.8
1.7
17.57
20.86
nmol/l
2.02
105
698
12
29
4.25
3.74
1.0
1.1
—
—
—
0
0
243
2092
1.62
3.59
5.0
4.3
11.12
10.82
mm/h
0.13
220
1957
11
26
4.34
3.54
1.0
1.1
—
—
—
0
0
30
147
2.15
3.49
1.2
1.3
—
—
—
0
0
185
1524
1.49
3.13
6.1
6.8
10.13
11.62
umol/l
1.30
177
1462
108
797
1.53
3.12
4.3
3.1
0.14
0.43
e6/l
3.32
83
587
73
493
1.62
3.09
3.4
2.9
1.26
0.91
e6/l
0.49
44
264
159
1275
1.48
3.06
2.9
2.5
78.64
74.62
nmol/l
1.05
145
1152
199
1669
1.49
3.04
8.3
10.1
4.06
4.06
e9/l
0.01
173
1457
95
685
1.54
3.04
2.2
2.4
—
—
—
0
0
52
327
1.70
2.89
3.3
4.4
248.83
234.30
u/l
0.38
46
313
25
124
2.10
2.84
1.8
2.1
19.12
4.41
iu/ml
—
6
32
185
1548
1.45
2.74
4.6
3.8
0.00
0.00
estimate
-0.00
40
290
289
2656
1.72
2.69
16.2
14.9
89.93
84.22
ml/min/173m2
4.10
264
2444
67
458
1.58
2.69
3.5
3.0
2.03
2.43
e6/l
0.17
38
231
183
1532
1.44
2.68
4.6
3.8
0.00
0.00
estimate
-0.00
41
313
18
80
2.32
2.66
1.3
1.3
277.65
304.01
ug/g
0.20
12
43
282
2586
1.63
2.51
5.7
5.2
1.73
1.87
mu/l
1.47
259
2409
127
1004
1.43
2.50
4.5
3.3
—
—
—
0
0
298
2778
1.77
2.42
20.2
15.3
23.27
22.40
mg/l
0.18
252
2276
119
935
1.43
2.41
3.5
2.6
59.02
67.56
u/l
0.56
108
875
5
8
6.32
2.38
1.0
1.5
—
—
—
0
0
44
281
1.65
2.32
5.6
4.2
2.66
1.77
mmol/l
0.73
38
235
29
165
1.83
2.28
2.8
3.1
2.63
1.69
mmol/l
0.61
24
119
178
1512
1.39
2.25
4.6
3.8
0.00
0.00
estimate
-0.00
38
310
6
14
4.34
2.16
1.0
1.1
—
—
—
0
0
40
258
1.63
2.04
5.1
3.7
4.35
4.56
kpa
0.31
40
252
159
1342
1.36
2.01
3.1
2.7
—
—
estimate
—
0
0
165
1402
1.35
2.00
3.1
2.9
100.02
112.79
ug/l
0.36
155
1316
84
640
1.42
1.97
1.6
1.8
1.02
1.30
mg/l
0.35
68
507
0
50
0.00
1.90
0.0
1.1
—
—
—
0
0
240
2175
1.38
1.84
4.5
4.3
14.93
14.72
pmol/l
0.64
214
2000
6
150
0.39
1.82
1.5
3.0
20.83
37.22
u/ml
—
6
143
22
124
1.83
1.81
1.6
1.7
1.31
1.50
g/l
0.40
15
111
41
275
1.56
1.80
2.2
2.6
58.75
34.95
u/l
0.36
32
234
194
1708
1.33
1.77
5.5
5.0
6.62
6.58
mmol/l
0.08
189
1609
283
2647
1.49
1.76
5.0
4.9
5.93
5.88
mmol/l
0.25
267
2453
6
18
3.37
1.75
1.5
2.4
240.83
71.60
umol/l
—
6
10
6
18
3.37
1.75
1.2
1.1
—
—
—
0
0
16
82
2.00
1.72
1.2
1.1
—
—
—
0
0
10
41
2.48
1.66
1.2
1.4
—
—
—
0
0
10
41
2.48
1.66
1.0
1.2
—
—
—
0
0
24
383
0.60
1.65
1.7
2.2
—
—
—
0
0
277
2588
1.44
1.65
6.8
6.2
38.60
39.02
mmol/mol
0.30
263
2454
48
341
1.48
1.63
4.9
4.8
30.16
32.07
%
0.81
38
232
65
490
1.41
1.62
2.3
2.3
12.54
13.54
umol/l
0.69
59
454
28
426
0.63
1.59
2.0
2.3
—
—
—
0
0
69
528
1.39
1.57
1.6
1.8
439.52
48802179.20
pmol/l
0.95
60
459
14
71
2.02
1.56
1.4
1.2
—
—
—
0
0
128
1077
1.31
1.56
3.7
3.8
36.86
93.31
ng/l
0.52
98
742
113
936
1.32
1.54
3.8
3.4
2.34
2.35
mmol/l
0.28
103
859
92
740
1.34
1.53
2.8
2.1
3.11
2.89
mg/l
0.32
82
645
5
15
3.37
1.53
1.4
6.3
—
—
—
0
0
15
80
1.92
1.47
1.2
1.1
—
—
—
0
0
77
607
1.35
1.46
1.6
1.6
—
—
—
0
0
5
17
2.97
1.36
3.2
2.7
559.00
694.38
ml
—
5
8
36
251
1.49
1.36
5.6
8.0
1.21
1.31
mmol/l
0.40
36
245
315
3046
1.80
1.35
27.7
23.0
90.56
90.92
fl
0.82
315
3024
9
42
2.17
1.34
1.1
1.2
—
—
—
0
0
315
3047
1.79
1.34
27.8
23.1
4.50
4.52
e12/l
0.32
308
2990
24
153
1.61
1.33
1.3
1.3
—
—
—
0
0
315
3050
1.77
1.29
28.0
23.2
134.65
136.40
g/l
1.33
315
3024
87
712
1.30
1.27
1.4
1.4
0.66
1.56
u/ml
1.66
22
189
67
529
1.33
1.26
3.0
2.7
2.44
2.45
mmol/l
0.12
58
478
48
360
1.39
1.24
2.7
2.9
7.56
8.44
umol/l
0.10
43
325
51
389
1.37
1.20
7.1
7.4
102.84
104.46
mmol/l
1.08
51
389
6
26
2.33
1.19
1.0
2.2
—
—
—
0
0
69
552
1.32
1.19
1.3
1.3
62.99
35.39
iu/ml
0.39
21
171
7
30
2.36
1.13
1.0
1.2
—
—
—
0
0
7
30
2.36
1.13
1.0
1.2
—
—
—
0
0
7
31
2.28
1.11
1.0
1.1
—
90.00
—
0
6
41
306
1.39
1.10
8.1
8.3
2.36
1.02
mmol/l
0.87
35
265
7
32
2.21
1.08
1.0
1.2
—
—
—
0
0
7
32
2.21
1.08
1.0
1.2
—
—
—
0
0
63
506
1.30
1.06
1.4
1.3
2.43
11.74
u/ml
2.09
21
201
87
731
1.26
1.03
2.3
2.8
334.08
348.65
umol/l
0.71
78
650
58
463
1.31
1.02
2.3
1.9
—
—
—
0
0
290
2783
1.35
0.99
5.7
5.7
2.85
2.73
mmol/l
1.55
274
2611
9
49
1.86
0.99
1.4
1.1
—
—
—
0
0
9
49
1.86
0.99
1.7
3.6
7.82
10.00
pmol/l
—
9
49
5
23
2.19
0.98
1.0
2.3
—
—
—
0
0
7
36
1.96
0.97
1.0
1.2
—
—
—
0
0
31
226
1.41
0.97
1.6
1.4
—
—
—
0
0
286
2742
1.33
0.96
5.0
5.0
4.78
4.64
mmol/l
1.66
274
2582
21
142
1.51
0.95
4.8
3.2
1.02
1.02
ratio
0.32
21
135
6
27
2.24
0.94
1.2
1.2
—
—
—
0
0
6
28
2.16
0.92
1.5
1.5
—
—
—
0
0
30
220
1.40
0.91
1.9
2.6
73.40
67.22
ml/min/173m2
—
10
95
37
284
1.34
0.86
2.9
1.9
350.30
370.16
nmol/l
0.25
37
271
94
812
1.22
0.86
3.3
3.3
1144.46
1125.14
ng/l
0.02
72
684
6
33
1.83
0.79
1.3
1.2
—
—
—
0
0
12
74
1.65
0.79
1.7
3.3
8.50
2.47
index
—
6
43
64
539
1.23
0.75
4.3
4.0
79.94
309.74
ng/l
1.65
48
414
213
2002
1.18
0.73
3.6
3.4
43.76
47.31
u/l
0.37
203
1915
133
1205
1.17
0.71
2.1
1.9
1.44
1.36
mmol/l
0.48
105
1035
283
2733
1.25
0.71
5.0
4.9
1.45
1.46
mmol/l
0.15
266
2560
12
77
1.58
0.69
1.4
1.6
—
—
—
0
0
9
59
1.54
0.69
1.3
1.3
—
—
—
0
0
15
102
1.49
0.68
1.6
1.6
—
—
—
0
0
12
78
1.56
0.66
1.0
1.1
—
0.95
—
0
8
5
28
1.80
0.66
1.4
1.0
—
—
—
0
0
101
900
1.18
0.66
4.2
4.0
16.33
9.44
mg/mmol
0.25
62
571
38
306
1.27
0.66
6.0
7.0
—
—
—
0
0
42
343
1.26
0.65
2.3
1.8
—
—
—
0
0
22
164
1.37
0.64
1.0
1.0
—
—
—
0
0
5
29
1.73
0.64
1.4
1.1
—
—
—
0
0
79
694
1.18
0.61
5.1
3.6
1.02
1.02
kg/l
0.65
56
461
0
20
0.00
0.60
0.0
1.1
—
—
—
0
0
0
21
0.00
0.60
0.0
1.3
—
218.46
—
0
21
18
132
1.38
0.58
5.9
5.2
1.55
1.53
%
0.03
18
124
27
212
1.30
0.57
1.9
1.5
—
—
—
0
0
93
833
1.16
0.57
4.3
4.0
0.00
0.01
estimate
0.69
33
293
6
37
1.63
0.56
1.3
1.5
—
—
—
0
0
17
226
0.74
0.54
1.9
2.2
—
—
—
0
0
14
101
1.40
0.50
2.1
1.9
—
—
—
0
0
7
108
0.64
0.49
1.0
1.1
1.00
0.90
g/l
—
7
108
7
47
1.50
0.48
1.3
1.8
—
—
—
0
0
7
48
1.47
0.47
1.6
1.6
—
—
—
0
0
13
94
1.40
0.46
1.3
1.4
2.34
6.21
u/ml
—
5
20
98
896
1.13
0.45
5.0
5.4
2.12
2.51
ug/l
0.38
88
812
269
2615
1.16
0.44
4.2
4.2
1.29
1.28
mmol/l
0.12
252
2433
29
348
0.82
0.44
2.0
2.0
3.25
3.53
ratio
0.88
22
282
15
113
1.34
0.43
1.1
1.5
243.33
258.31
miu/ml
—
6
53
5
31
1.62
0.43
1.2
1.1
—
—
—
0
0
13
96
1.37
0.42
4.3
5.3
1.32
1.50
mg/l
0.66
13
88
13
96
1.37
0.42
1.9
1.8
—
—
—
0
0
196
1872
1.12
0.42
2.9
3.2
—
—
—
0
0
7
104
0.67
0.40
1.0
1.1
1.70
1.55
g/l
—
7
104
125
1169
1.11
0.39
5.0
3.6
0.13
0.00
estimate
0.76
30
258
25
300
0.82
0.38
3.4
4.7
9.22
21.58
ug/l
0.39
19
252
9
70
1.29
0.37
1.9
1.5
—
—
—
0
0
12
90
1.35
0.36
5.1
2.5
—
—
—
0
0
10
73
1.38
0.35
1.7
1.9
—
—
—
0
0
6
46
1.31
0.33
1.2
1.3
—
—
—
0
0
6
46
1.31
0.33
1.2
1.3
—
—
—
0
0
16
197
0.80
0.32
1.9
2.0
—
—
—
0
0
19
157
1.22
0.30
5.6
3.8
0.55
0.60
%
0.32
19
157
10
76
1.33
0.28
1.4
1.6
—
—
—
0
0
10
77
1.31
0.26
1.7
1.7
—
—
—
0
0
11
87
1.27
0.24
1.2
1.3
—
—
—
0
0
5
38
1.32
0.23
1.0
1.1
—
1.12
—
0
15
5
39
1.29
0.23
1.0
3.1
1.22
3.07
nmol/l
—
5
39
5
40
1.25
0.22
1.0
1.2
6.42
7.92
mmol/l
—
5
32
5
41
1.22
0.22
3.6
2.3
8.40
10.54
mmol/l
—
5
41
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
4.5
—
10.59
—
0
11
0
11
0.00
0.21
0.0
4.5
—
4.60
—
0
11
20
173
1.17
0.21
9.5
10.2
94.81
93.25
%
0.85
20
173
8
104
0.76
0.21
1.0
1.3
—
—
—
0
0
11
89
1.24
0.21
1.5
1.4
—
—
—
0
0
11
89
1.24
0.21
1.4
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
6
50
1.20
0.20
1.7
1.4
—
—
—
0
0
106
1014
1.07
0.19
3.7
3.4
34.69
33.59
u/l
0.11
95
965
7
58
1.21
0.18
2.0
1.5
—
—
—
0
0
7
59
1.19
0.18
2.1
1.6
—
—
—
0
0
57
538
1.07
0.15
3.1
3.2
0.74
0.75
ug/l
0.04
41
328
30
275
1.10
0.15
9.2
8.8
122.43
122.79
g/l
0.03
30
268
7
87
0.80
0.14
1.6
1.6
—
—
—
0
0
18
160
1.13
0.14
5.8
3.8
1.34
1.31
%
0.04
18
160
35
325
1.09
0.14
2.6
1.8
—
—
—
0
0
10
115
0.87
0.11
1.3
1.9
—
—
—
0
0
5
45
1.11
0.10
1.4
1.5
—
—
—
0
0
25
268
0.93
0.09
3.9
3.3
—
—
—
0
0
6
58
1.04
0.08
4.5
4.3
55.67
28.24
mg/l
—
6
42
5
60
0.83
0.08
1.4
1.1
—
17.27
—
0
22
5
62
0.80
0.08
1.6
1.8
—
—
—
0
0
7
64
1.10
0.08
1.1
1.6
0.77
0.87
nmol/l
—
7
55
7
64
1.10
0.08
2.6
1.4
—
—
—
0
0
74
718
1.04
0.08
4.3
4.6
21.90
21.83
%
0.02
36
330
11
123
0.89
0.08
3.4
3.6
25.17
742.31
u/ml
1.39
11
108
24
256
0.93
0.08
1.6
1.8
3.10
3.51
mmol/l
1.24
17
188
6
72
0.83
0.07
1.2
1.2
—
—
—
0
0
85
866
0.98
0.05
4.8
3.2
0.00
0.00
estimate
-0.00
29
248
29
278
1.05
0.04
2.3
2.5
14.79
14.04
nmol/l
0.16
24
260
44
431
1.02
0.02
1.7
1.5
—
—
—
0
0
12
121
0.99
0.00
2.0
2.3
4108.40
7110.00
u/l
—
5
41
16
161
0.99
0.00
1.9
1.7
—
—
—
0
0
17
175
0.97
0.00
1.5
1.5
0.34
0.29
mg/l
—
9
73
241
2405
1.01
0.00
22.9
19.3
331.98
332.85
g/l
0.74
241
2392
5
54
0.92
0.00
1.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
5
55
0.91
-0.00
1.2
1.3
9.92
17.40
u/l
—
5
48
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
1.18
—
0
5
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
5
58
0.86
-0.00
1.6
1.9
—
—
—
0
0
0
5
0.00
-0.00
0.0
4.0
—
57.22
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
9.52
—
0
5
9
95
0.95
-0.00
1.1
1.3
—
—
—
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
Loading data