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 |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
324 |
4. Check minimum number of eventsNone |
324 |
5. Include endpointsNone |
324 |
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
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 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 | 311 | 166 | 145 |
| Unadjusted period prevalence (%) | 0.06 | 0.06 | 0.07 |
| Median age at first event (years) | 49.10 | 45.59 | 53.12 |
-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
- 324
- Matched controls
- 3240
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
310
*
G62.9
ICD-10 Finland
Polyneuropathy, unspecified
256.6
119.6
116
7
Z31.5
ICD-10 Finland
Genetic counselling
13.4
84.9
92
93
N99
ICPC
Neurological disease other
74.3
40.3
45
7
R1250
NOMESCO Finland
Evaluation of functional capability
11.4
33.0
36
35
G60.9
ICD-10 Finland
Hereditary and idiopathic neuropathy, unspecified
+∞
32.9
31
*
G62.8
ICD-10 Finland
Other specified polyneuropathies
319.1
29.3
29
*
33000
ICD-8 Finland
Hereditary neuromuscular disorders, Neuropathic muscular atrophy
+∞
25.3
24
*
N28
ICPC
Limited function/disability (N)
22.8
23.1
33
16
L28
ICPC
Limited function/disability (L)
3.8
22.0
84
276
NH3AA
NOMESCO Finland
Foot and toes X-ray examination
4.8
21.7
54
129
TNX33
NOMESCO Finland
Custom moulded cast, unspecified region
6.3
21.2
38
67
SPAT1229
SPAT
Assessment of need for aid
5.2
20.3
45
97
G60.8
ICD-10 Finland
Other hereditary and idiopathic neuropathies
+∞
20.0
19
*
NH1AA
NOMESCO Finland
Ankle X-ray examination without contrast
5.0
18.4
43
97
Z50.1
ICD-10 Finland
Other physical therapy
5.4
16.8
35
71
N29
ICPC
Neurological sympt/complt other
14.6
16.3
27
20
G60
ICD-10 Finland
Hereditary and idiopathic neuropathy
+∞
15.8
15
*
N94
ICPC
Peripheral neuritis/neuropathy
167.8
15.6
16
*
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
3.2
15.3
74
278
Q66.7
ICD-10 Finland
Pes cavus
145.9
13.6
14
*
NHU20
NOMESCO Finland
Removal of internal fixation device from ankle or foot
6.0
12.6
23
41
3561A
ICD-9 Finland
Hereditary and idiopathic peripheral neuropathy, Peroneal muscular atrophy
+∞
12.6
12
*
N03AX12
ATC
[U] gabapentin; oral
2.8
12.0
73
309
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
4.6
11.7
29
68
Z50.9
ICD-10 Finland
Care involving use of rehabilitation procedure, unspecified
4.5
11.5
29
69
L17
ICPC
Foot/toe symptom/complaint
2.4
11.3
112
594
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
4.1
11.0
32
85
Z82.0
ICD-10 Finland
Family history of epilepsy and other diseases of the nervous system
44.9
11.0
13
*
L16
ICPC
Ankle symptom/complaint
3.0
10.9
52
192
M21.5
ICD-10 Finland
Acquired clawhand, clubhand, clawfoot and clubfoot
+∞
10.5
10
*
TNX50
NOMESCO Finland
Removal of cutom molded cast and internal stretch
4.5
10.3
26
62
N03AX16
ATC
[U] pregabalin
2.4
10.3
90
450
SPAT1215
SPAT
Assessment of need for medical rehabilitation
4.6
10.2
25
58
NHL20
NOMESCO Finland
Myotomy or tenotomy of foot
27.0
9.9
13
5
M20.4
ICD-10 Finland
Other hammer toe(s) (acquired)
4.8
9.7
22
48
N18
ICPC
Paralysis/weakness
11.9
9.7
17
15
NHK40
NOMESCO Finland
Osteotomy or rotation osteotomy of II-V metatarsal or tarsal bone
9.5
9.7
19
21
NHG20
NOMESCO Finland
Fusion of talocrural joint
31.0
9.5
12
*
Z3226
NOMESCO Finland
Physiotherapist
2.4
9.4
75
358
N03AE01
ATC
clonazepam; systemic
3.9
9.2
28
77
NHL68
NOMESCO Finland
Tenodesis, shortening or lengthening of tendon of foot
13.0
9.0
15
12
L84
ICD-10 Finland
Corns and callosities
4.5
8.8
22
52
NHL14
NOMESCO Finland
Shortening or lengthening of achilles tendon
16.9
8.6
13
8
G61.0
ICD-10 Finland
Guillain-Barré syndrome
92.4
8.5
9
*
G64
ICD-10 Finland
Other disorders of peripheral nervous system
92.4
8.5
9
*
W01
ICD-10 Finland
Fall on same level from slipping, tripping and stumbling
2.1
8.4
106
610
3569X
ICD-9 Finland
Hereditary and idiopathic peripheral neuropathy, Unspecified
+∞
8.4
8
*
R4120
NOMESCO Finland
Occupational therapy
3.2
8.2
33
110
Q66.0
ICD-10 Finland
Talipes equinovarus
34.3
8.1
10
*
R5110, ,
SPAT
3.6
8.0
27
80
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
3.0
8.0
37
134
R4110
NOMESCO Finland
Physiotherapy
2.1
7.9
100
573
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.5
7.9
52
226
NHG22
NOMESCO Finland
Fusion of subtalar joint
25.7
7.6
10
*
M05BA04
ATC
alendronic acid; oral
3.4
7.6
28
88
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
*
G60.3
ICD-10 Finland
Idiopathic progressive neuropathy
+∞
7.3
7
*
TQW40
NOMESCO Finland
Remowal of suture of skin
3.2
7.3
30
101
A46
ICD-10 Finland
Erysipelas
2.4
7.2
54
249
A28
ICPC
Limited function/disability NOS
2.3
7.0
56
266
M79.6
ICD-10 Finland
Pain in limb
1.9
7.0
139
925
Z01.8
ICD-10 Finland
Other specified special examinations
2.1
6.9
78
427
N02AE01
ATC
buprenorphine; parenteral, sublingual, transdermal
2.5
6.9
47
208
N02BF01
ATC
gabapentin; oral
2.9
6.8
33
122
NHL99
NOMESCO Finland
Other operation on muscle or tendon of ankle or foot
17.1
6.8
10
6
G72.9
ICD-10 Finland
Myopathy, unspecified
12.6
6.6
11
9
NGA20
NOMESCO Finland
Exploration of soft tissue knee or lower leg, open
71.2
6.4
7
*
G12.8
ICD-10 Finland
Other spinal muscular atrophies and related syndromes
71.2
6.4
7
*
N03AF01
ATC
carbamazepine; oral, rectal
3.3
6.4
24
76
TNX32
NOMESCO Finland
Custom moulded splint, unspecified region
3.7
6.1
19
53
TNH33
NOMESCO Finland
Custom moulded brace, ankle or foot
8.9
6.1
12
14
Z46.8
ICD-10 Finland
Fitting and adjustment of other specified devices
5.4
6.1
17
33
L19
ICPC
Muscle symptom/complaint NOS
6.2
6.1
15
25
M48.0
ICD-10 Finland
Spinal stenosis
2.4
6.1
44
200
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
167
965
2.51
14.76
2.1
1.9
99.77
96.95
pmol/l
0.30
90
515
34
85
4.35
12.72
1.8
1.8
—
—
—
0
0
129
749
2.20
10.34
2.4
2.1
234.88
220.24
u/l
0.12
121
708
12
12
10.33
6.59
1.0
1.0
—
—
—
0
0
164
1204
1.73
5.56
5.5
6.2
1.21
1.21
mmol/l
0.02
146
1037
75
442
1.91
5.27
1.8
1.6
1102.31
1150.08
nmol/l
0.17
58
330
151
1098
1.70
5.19
5.3
5.4
1.22
1.21
mmol/l
0.34
143
1004
23
84
2.87
4.89
2.0
2.2
190.71
309.84
ug/l
0.59
23
79
232
1916
1.74
4.79
4.3
3.9
11.56
10.81
mm/h
0.34
208
1771
237
1985
1.72
4.48
7.4
7.3
79.40
78.09
u/l
0.20
221
1858
143
1057
1.63
4.42
4.9
4.4
35.98
36.00
g/l
0.01
134
994
88
573
1.74
4.40
1.5
1.5
17.65
21.15
nmol/l
1.71
82
498
139
1032
1.61
4.15
2.5
2.3
80.12
74.23
nmol/l
1.57
126
923
147
1139
1.53
3.48
9.9
11.4
1.06
1.22
inr
4.76
29
340
30
149
2.12
3.38
1.2
1.3
—
—
—
0
0
268
2403
1.67
3.04
5.1
4.5
1.75
2.36
mu/l
0.65
246
2215
17
69
2.54
3.01
1.3
1.3
277.65
296.66
ug/g
0.14
12
37
156
1268
1.44
2.71
6.2
5.9
58.92
56.54
%
1.64
142
1205
157
1282
1.44
2.64
6.8
6.0
26.87
28.24
%
0.81
143
1220
84
611
1.51
2.55
2.0
2.1
—
—
—
0
0
18
83
2.24
2.46
1.3
2.2
—
—
—
0
0
300
2812
1.90
2.44
10.4
9.9
26.66
26.67
u/l
0.00
295
2724
94
706
1.47
2.43
3.7
2.9
0.19
0.46
e6/l
2.03
78
534
6
12
5.07
2.41
1.0
1.1
—
—
—
0
0
62
428
1.55
2.39
2.8
2.6
1.32
0.97
e6/l
0.46
41
247
269
2466
1.54
2.21
12.2
12.1
90.71
84.45
ml/min/173m2
4.21
222
2011
8
24
3.39
2.19
1.0
1.1
—
—
—
0
0
8
24
3.39
2.19
1.0
1.1
—
—
—
0
0
160
1342
1.38
2.17
5.7
6.3
10.22
11.37
umol/l
0.78
153
1278
147
1220
1.38
2.11
2.9
2.4
—
—
—
0
0
5
10
5.06
2.08
1.0
1.4
—
—
—
0
0
8
26
3.13
2.02
1.0
1.1
—
—
—
0
0
178
1531
1.36
2.01
7.4
9.3
3.98
4.03
e9/l
0.13
151
1335
13
57
2.33
2.00
1.3
1.2
—
—
—
0
0
283
2640
1.57
1.96
16.3
13.0
22.70
22.16
mg/l
0.09
228
2090
36
229
1.64
1.95
5.4
3.8
2.44
1.99
mmol/l
0.24
31
175
57
404
1.50
1.95
2.8
2.8
2.08
2.45
e6/l
0.15
37
227
6
16
3.80
1.94
1.5
2.4
240.83
76.56
umol/l
—
6
9
221
1974
1.38
1.92
4.3
3.8
14.96
14.68
pmol/l
0.84
197
1804
5
12
4.21
1.83
4.2
2.3
28583.00
36258.75
ug/l
—
5
12
19
102
1.92
1.80
1.7
1.8
1.22
1.53
g/l
0.69
13
88
32
204
1.63
1.73
4.5
3.2
4.56
4.58
kpa
0.02
32
198
16
82
2.00
1.72
1.2
1.1
—
—
—
0
0
0
46
0.00
1.72
0.0
1.1
—
—
—
0
0
111
905
1.34
1.72
3.9
3.0
—
—
—
0
0
74
565
1.40
1.72
1.5
1.8
0.71
1.22
mg/l
2.79
59
442
176
1537
1.32
1.68
5.0
4.3
6.57
6.61
mmol/l
0.11
170
1424
5
14
3.61
1.62
1.4
4.9
—
—
—
0
0
137
1161
1.31
1.60
2.7
2.5
102.11
113.36
ug/l
0.25
127
1072
309
2970
1.87
1.60
22.0
19.0
39.66
40.60
%
1.41
292
2801
309
2970
1.87
1.60
22.1
19.0
4.51
4.53
e12/l
0.32
301
2891
70
537
1.39
1.58
1.5
1.6
—
—
—
0
0
6
140
0.42
1.56
1.5
2.8
20.83
38.73
u/ml
—
6
133
24
146
1.70
1.56
1.3
1.3
—
—
—
0
0
309
2973
1.85
1.54
22.2
19.1
134.84
136.69
g/l
1.42
309
2933
60
453
1.40
1.48
1.3
1.3
47.56
40.60
iu/ml
0.09
19
152
15
80
1.92
1.47
1.2
1.1
—
—
—
0
0
21
334
0.60
1.44
1.7
2.1
—
—
—
0
0
62
474
1.38
1.43
1.5
1.8
451.26
26097998.42
pmol/l
0.77
54
410
31
207
1.55
1.41
4.5
6.2
1.27
1.29
mmol/l
0.06
31
201
25
377
0.63
1.38
1.9
2.2
—
—
—
0
0
43
310
1.45
1.37
4.4
4.5
30.22
32.13
%
0.75
36
211
53
399
1.39
1.34
2.2
2.1
12.80
13.68
umol/l
0.48
48
369
6
24
2.53
1.31
1.0
1.2
—
68.00
—
0
5
267
2511
1.36
1.30
4.4
4.3
5.93
5.88
mmol/l
0.21
250
2311
147
1286
1.26
1.27
4.2
3.5
0.00
0.00
estimate
-0.00
24
234
6
25
2.43
1.25
1.5
1.4
—
—
—
0
0
6
25
2.43
1.25
1.0
1.2
—
—
—
0
0
6
25
2.43
1.25
1.0
1.2
—
—
—
0
0
6
25
2.43
1.25
1.2
1.2
—
—
—
0
0
34
239
1.47
1.24
2.0
2.5
28.82
36.05
u/l
0.86
28
207
274
2593
1.37
1.23
4.2
4.3
4.82
4.68
mmol/l
1.57
261
2429
38
274
1.44
1.22
3.8
3.9
255.36
235.03
u/l
0.40
33
262
33
232
1.47
1.21
2.8
1.9
338.33
361.29
nmol/l
0.27
33
217
6
26
2.33
1.19
1.0
1.2
—
—
—
0
0
6
26
2.33
1.19
1.0
1.2
—
—
—
0
0
6
26
2.33
1.19
1.0
1.2
—
—
—
0
0
144
1267
1.25
1.16
6.3
4.7
0.00
0.00
estimate
-0.00
23
246
144
1268
1.24
1.15
4.3
3.5
0.00
0.00
estimate
0.50
26
262
98
828
1.26
1.11
3.5
2.4
56.82
63.82
u/l
0.54
90
768
74
604
1.29
1.11
1.3
1.3
0.56
1.48
u/ml
1.72
18
161
277
2639
1.34
1.07
4.7
4.7
2.90
2.79
mmol/l
1.31
259
2453
71
579
1.29
1.07
4.6
3.5
1.02
1.02
kg/l
0.81
17
77
50
388
1.34
1.07
2.0
1.8
—
—
—
0
0
111
960
1.24
1.02
3.6
3.6
36.81
41.81
ng/l
0.16
84
635
7
35
2.02
1.00
1.1
1.1
—
—
—
0
0
7
36
1.96
0.97
1.3
1.3
—
—
—
0
0
53
421
1.31
0.97
3.3
2.8
2.44
2.44
mmol/l
0.05
44
372
271
2583
1.30
0.97
4.2
4.3
1.45
1.46
mmol/l
0.13
254
2407
35
261
1.38
0.96
7.7
7.2
2.51
1.16
mmol/l
0.72
29
219
93
794
1.24
0.96
3.8
3.3
2.35
2.35
mmol/l
0.05
82
713
81
681
1.25
0.96
3.1
3.2
1293.81
1097.12
ng/l
0.16
61
568
54
432
1.30
0.94
1.3
1.3
2.35
13.05
u/ml
2.12
19
175
57
463
1.28
0.89
3.9
3.9
105.56
278.20
ng/l
1.01
43
353
262
2495
1.26
0.88
3.8
3.8
1.28
1.29
mmol/l
0.04
245
2314
73
612
1.25
0.88
2.6
2.0
3.40
3.10
mg/l
0.37
63
526
39
301
1.34
0.88
6.4
6.5
102.54
104.34
mmol/l
1.27
39
301
11
64
1.74
0.87
1.5
3.0
—
1.21
—
0
6
41
320
1.32
0.86
2.8
2.7
8.00
9.03
umol/l
0.10
36
282
8
45
1.80
0.85
1.4
1.6
—
—
—
0
0
8
46
1.76
0.83
1.5
1.0
—
—
—
0
0
43
342
1.30
0.80
2.2
2.2
20.00
23.58
%
1.43
37
297
251
2388
1.23
0.80
6.2
5.4
39.32
39.51
mmol/mol
0.11
236
2240
6
33
1.83
0.79
1.3
1.6
—
—
—
0
0
6
33
1.83
0.79
1.2
1.2
—
—
—
0
0
6
34
1.78
0.76
1.3
1.5
—
—
—
0
0
196
1827
1.18
0.76
3.3
3.1
46.61
47.02
u/l
0.03
186
1730
12
75
1.62
0.76
1.0
1.1
—
0.95
—
0
8
34
264
1.32
0.75
1.9
1.7
—
—
—
0
0
5
24
2.10
0.75
1.0
2.0
—
—
—
0
0
5
25
2.02
0.73
1.4
1.0
—
—
—
0
0
9
56
1.62
0.73
1.2
1.6
—
—
—
0
0
14
93
1.53
0.70
1.1
1.5
214.80
268.84
miu/ml
—
5
46
9
58
1.57
0.70
1.2
1.6
—
—
—
0
0
5
27
1.86
0.68
1.2
1.2
—
—
—
0
0
5
27
1.86
0.68
1.2
1.2
137.20
371.26
pmol/l
—
5
27
21
279
0.74
0.65
2.0
1.7
—
—
—
0
0
11
71
1.57
0.63
5.1
2.5
—
—
—
0
0
14
96
1.48
0.62
2.1
1.9
—
—
—
0
0
8
52
1.55
0.60
1.4
1.3
—
—
—
0
0
37
302
1.25
0.59
6.0
7.0
—
—
—
0
0
15
106
1.44
0.58
5.6
5.3
1.51
1.52
%
0.01
15
99
0
23
0.00
0.58
0.0
1.2
—
—
—
0
0
11
74
1.50
0.54
1.2
1.3
2.34
7.61
u/ml
—
5
15
13
91
1.45
0.53
1.9
1.8
—
—
—
0
0
6
39
1.55
0.53
1.3
1.6
—
—
—
0
0
9
134
0.66
0.53
1.1
1.5
—
—
—
0
0
25
197
1.29
0.53
1.7
2.6
71.63
68.50
ml/min/173m2
—
8
80
82
732
1.16
0.53
3.6
3.7
17.90
10.01
mg/mmol
0.25
54
458
75
665
1.17
0.52
2.3
2.6
6841.39
5317.51
umol/l
0.08
66
582
6
40
1.51
0.52
1.5
1.6
—
—
—
0
0
10
67
1.51
0.50
1.4
1.6
—
—
—
0
0
12
86
1.41
0.45
1.6
1.5
—
—
—
0
0
32
268
1.22
0.43
2.0
1.8
—
—
—
0
0
0
16
0.00
0.41
0.0
1.1
—
1.13
—
0
5
22
270
0.80
0.41
3.2
4.5
9.76
23.13
ug/l
0.38
17
227
5
34
1.48
0.40
1.6
1.6
—
—
—
0
0
15
193
0.77
0.40
1.4
2.0
—
—
—
0
0
90
825
1.13
0.40
4.4
4.8
2.16
2.57
ug/l
0.39
80
745
0
18
0.00
0.40
0.0
1.1
—
—
—
0
0
19
151
1.27
0.39
1.0
1.0
—
—
—
0
0
0
19
0.00
0.39
0.0
1.4
—
203.35
—
0
19
54
480
1.15
0.38
2.8
2.9
0.76
0.74
ug/l
0.08
38
294
6
41
1.47
0.36
1.2
1.3
—
—
—
0
0
6
41
1.47
0.36
1.2
1.3
—
—
—
0
0
5
78
0.64
0.36
1.0
1.6
—
—
—
0
0
6
42
1.44
0.35
1.0
1.6
—
—
—
0
0
6
42
1.44
0.35
1.0
1.6
—
—
—
0
0
6
42
1.44
0.35
2.0
3.6
59.67
60.00
%
—
6
42
107
998
1.11
0.35
4.7
3.5
—
—
—
0
0
76
696
1.12
0.34
1.9
1.7
1.42
1.38
mmol/l
0.14
61
599
22
184
1.21
0.31
1.9
1.4
—
—
—
0
0
17
138
1.24
0.31
7.8
8.4
94.42
93.82
%
0.23
17
138
8
106
0.75
0.29
3.8
3.5
25.75
571.24
u/ml
—
8
92
7
57
1.23
0.29
1.1
1.3
0.77
0.84
nmol/l
—
7
48
8
63
1.28
0.28
1.9
1.9
—
—
—
0
0
8
67
1.20
0.26
1.1
1.4
—
—
—
0
0
5
71
0.70
0.26
1.0
1.5
—
—
—
0
0
5
71
0.70
0.26
1.0
1.5
—
—
—
0
0
5
71
0.70
0.26
1.0
1.5
—
—
—
0
0
5
72
0.69
0.26
1.8
1.4
—
—
—
0
0
71
660
1.10
0.25
3.8
4.3
22.97
21.08
%
0.50
33
299
14
115
1.23
0.24
5.1
3.2
0.55
0.65
%
0.80
14
115
5
38
1.32
0.23
1.0
1.1
—
1.12
—
0
15
5
41
1.22
0.22
1.0
1.2
6.42
8.03
mmol/l
—
5
33
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
3.8
—
—
—
0
0
0
11
0.00
0.21
0.0
3.8
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
5
43
1.17
0.21
1.4
1.5
—
—
—
0
0
0
14
0.00
0.20
0.0
2.6
—
—
—
0
0
65
690
0.93
0.18
4.4
3.8
0.00
0.02
estimate
0.68
21
240
93
887
1.07
0.18
3.8
3.3
35.17
32.26
u/l
0.36
86
842
185
1803
1.06
0.18
2.8
3.1
—
—
—
0
0
16
138
1.17
0.18
3.1
2.6
0.16
0.11
e6/l
0.29
16
133
14
120
1.17
0.16
5.1
3.2
1.38
1.37
%
0.00
14
120
38
409
0.92
0.15
1.6
1.4
—
—
—
0
0
14
160
0.87
0.14
1.4
1.8
—
—
—
0
0
5
44
1.14
0.10
1.6
1.4
—
—
—
0
0
5
48
1.04
0.09
1.0
1.2
—
—
—
0
0
5
48
1.04
0.09
1.4
1.1
—
—
—
0
0
25
233
1.08
0.09
3.7
3.3
—
—
—
0
0
7
65
1.08
0.08
1.1
1.3
—
—
—
0
0
8
78
1.03
0.07
1.3
1.1
—
—
—
0
0
10
89
1.13
0.07
1.6
1.4
—
—
—
0
0
10
109
0.91
0.04
1.3
1.9
—
—
—
0
0
23
228
1.01
0.00
9.2
7.7
120.91
123.60
g/l
0.19
23
222
14
141
0.99
0.00
1.9
1.6
—
—
—
0
0
5
50
1.00
0.00
2.0
1.4
—
—
—
0
0
10
100
1.00
-0.00
1.5
2.4
4108.40
5010.08
u/l
—
5
36
6
67
0.89
-0.00
3.0
1.7
159.00
258.81
pmol/l
—
6
62
8
85
0.94
-0.00
1.0
1.3
—
—
—
0
0
7
69
1.01
-0.00
1.3
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
34.59
—
0
8
0
8
0.00
-0.00
0.0
1.1
—
75.01
—
0
8
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
5
54
0.92
-0.00
1.4
1.9
—
—
—
0
0
5
58
0.86
-0.00
1.6
1.7
—
—
—
0
0
0
9
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
3.6
—
57.30
—
0
5
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
7
74
0.94
-0.00
1.3
1.9
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
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: 5
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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