hereditary ataxia: A hereditary disorder consisting of degeneration of the cerebellum and/or of the spine; most cases feature both to some extent, and therefore present with overlapping cerebellar and sensory ataxia, even though one is often more evident than the other. Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and dentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia (sensory and cerebellar, with the former predominating) and Niemann Pick disease, ataxia-telangiectasia (sensory and cerebellar, with the latter predominating), and abetalipoproteinaemia. An example of X-linked ataxic condition is the rare fragile X-associated tremor/ataxia syndrome or FXTAS.
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. |
538 |
4. Check minimum number of eventsNone |
538 |
5. Include endpointsNone |
538 |
6. Filter based on genotype QC (FinnGen only) |
486 |
Control definitions (FinnGen only)
- Control exclude
- G6_NEUATR
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- G10-G13
- Name in latin
- Ataxia hereditaria
Similar endpoints
↥List of similar endpoints to
Hereditary ataxia
based on the number of shared cases.
Similar with more cases:
- Systemic atrophies primarily affecting the central nervous system
- Neurological diseases
- Neurological diseases, wide definition
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 4821 | 2073 | 2663 |
| Only index persons | 3377 | 1566 | 1811 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.07 | 0.06 | 0.07 |
| Only index persons | 0.06 | 0.06 | 0.07 |
| Median age at first event (years) | |||
| Whole population | 55.02 | 56.38 | 53.71 |
| Only index persons | 53.07 | 54.05 | 52.22 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 486 | 211 | 275 |
| Unadjusted period prevalence (%) | 0.10 | 0.07 | 0.13 |
| Median age at first event (years) | 58.01 | 57.07 | 58.73 |
-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
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
- 503
- Matched controls
- 5030
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G11.9
ICD-10 Finland
Hereditary ataxia, unspecified
+∞
267.3
232
*
G11.2
ICD-10 Finland
Late-onset cerebellar ataxia
+∞
145.0
132
*
R27.0
ICD-10 Finland
Ataxia, unspecified
220.4
104.8
105
6
N99
ICPC
Neurological disease other
48.5
101.7
60
14
G11.8
ICD-10 Finland
Other hereditary ataxias
+∞
85.9
80
*
Z31.5
ICD-10 Finland
Genetic counselling
10.9
84.3
100
112
N28
ICPC
Limited function/disability (N)
22.0
74.9
57
29
N29
ICPC
Neurological sympt/complt other
17.1
59.7
51
33
M03BX01
ATC
baclofen; systemic
15.1
51.7
47
34
G11.4
ICD-10 Finland
Hereditary spastic paraplegia
+∞
49.8
47
*
G62.9
ICD-10 Finland
Polyneuropathy, unspecified
9.1
49.8
65
81
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
5.7
47.2
100
209
R26.8
ICD-10 Finland
Other and unspecified abnormalities of gait and mobility
10.4
43.1
50
53
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
6.3
40.5
75
137
N03AE01
ATC
clonazepam; systemic
5.9
37.7
74
143
R1250
NOMESCO Finland
Evaluation of functional capability
9.1
33.1
42
50
L28
ICPC
Limited function/disability (L)
3.3
30.6
157
615
R26.0
ICD-10 Finland
Ataxic gait
76.6
26.1
29
*
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
3.7
24.8
88
270
A28
ICPC
Limited function/disability NOS
2.9
24.3
144
604
N18
ICPC
Paralysis/weakness
8.5
24.1
32
40
TAB00
NOMESCO Finland
Lumbar puncture
5.1
24.0
54
117
3342A
ICD-9 Finland
Spinocerebellar disease, Primary cerebellar degeneration
+∞
23.1
22
*
G31.9
ICD-10 Finland
Degenerative disease of nervous system, unspecified
47.4
22.6
27
6
R42
ICD-10 Finland
Dizziness and giddiness
2.7
22.1
164
768
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
3.8
21.9
74
219
Z50.9
ICD-10 Finland
Care involving use of rehabilitation procedure, unspecified
5.3
21.1
44
89
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
3.9
20.4
66
189
NA2BG
NOMESCO Finland
Thoracal spine MRI examination with high intensity magnet
6.7
20.3
33
52
W01
ICD-10 Finland
Fall on same level from slipping, tripping and stumbling
2.4
19.0
206
1138
G11.18
ICD-10 Finland
Early-onset cerebellar ataxia
+∞
18.9
18
*
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
4.1
17.1
50
133
R4130
NOMESCO Finland
Speech therapy
5.5
16.3
32
61
G31.2
ICD-10 Finland
Degeneration of nervous system due to alcohol
16.4
15.9
25
16
R47.1
ICD-10 Finland
Dysarthria and anarthria
14.4
15.7
26
19
R56.8
ICD-10 Finland
Other and unspecified convulsions
3.9
15.2
46
125
N03AX12
ATC
[U] gabapentin; oral
2.5
15.2
111
506
R5110, ,
SPAT
3.2
15.1
65
223
H55
ICD-10 Finland
Nystagmus and other irregular eye movements
25.9
14.8
20
8
G11.00
ICD-10 Finland
Cerebellar dysplasia and aplasia
+∞
14.7
14
*
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
154.3
14.5
15
*
SPAT1215
SPAT
Assessment of need for medical rehabilitation
4.6
14.5
35
80
AA1AD
NOMESCO Finland
CT of head and brain
2.1
13.0
176
1031
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
2.3
12.8
124
637
G82.1
ICD-10 Finland
Spastic paraplegia
+∞
12.5
12
*
G11.02
ICD-10 Finland
Dysequilibrium syndrome
+∞
12.5
12
*
3343A
ICD-9 Finland
Spinocerebellar disease, Other cerebellar ataxia
+∞
12.5
12
*
G35
ICD-10 Finland
Multiple sclerosis
13.6
12.5
21
16
SPAT1229
SPAT
Assessment of need for aid
3.1
12.1
52
178
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.4
11.9
98
468
G40.9
ICD-10 Finland
Epilepsy, unspecified
4.1
11.7
33
85
G11
ICD-10 Finland
Hereditary ataxia
+∞
11.5
11
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.4
11.2
82
371
7812A
ICD-9 Finland
Symptoms involving nervous and musculoskeletal systems, Abnormality of gait
+∞
10.4
10
*
3349X
ICD-9 Finland
Spinocerebellar disease, unspecified
+∞
10.4
10
*
N06AA09
ATC
amitriptyline; systemic
2.6
10.3
61
249
N02BF01
ATC
gabapentin; oral
2.5
9.8
64
274
Z3226
NOMESCO Finland
Physiotherapist
2.1
9.7
105
559
N04BA02
ATC
levodopa and decarboxylase inhibitor; oral
3.6
9.5
32
94
Z82.0
ICD-10 Finland
Family history of epilepsy and other diseases of the nervous system
22.2
9.4
13
6
L99
ICPC
Musculoskeletal disease other
5.0
9.4
20
41
XKC03
NOMESCO Finland
Water cystometry
4.2
9.3
25
62
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
3.1
9.3
40
137
SPAT1220
SPAT
Assessment of need for rehabilitation and/or rehabilitation plan
3.0
9.2
41
143
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
2.7
9.2
51
201
R25.1
ICD-10 Finland
Tremor, unspecified
4.2
9.1
24
59
R4120
NOMESCO Finland
Occupational therapy
2.9
8.9
44
163
XA800
NOMESCO Finland
Neuropsychological investigation
3.4
8.9
32
98
NA3BG
NOMESCO Finland
Lumbar spine MRI examination with high intensity magnet
2.4
8.9
64
287
N03AF02
ATC
oxcarbazepine; oral
3.8
8.8
27
74
UKC02
NOMESCO Finland
Cystoscopy
2.1
8.8
101
548
Z01.8
ICD-10 Finland
Other specified special examinations
2.0
8.8
121
701
N05BA01
ATC
diazepam; systemic, rectal
2.2
8.7
77
378
R1260
NOMESCO Finland
Evaluation of communicative skills
4.9
8.7
19
40
Z46.8
ICD-10 Finland
Fitting and adjustment of other specified devices
4.1
8.4
23
58
N03AG01
ATC
valproic acid; systemic, rectal
2.9
8.4
41
151
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
2.3
8.4
71
341
N06AX21
ATC
duloxetine; oral
2.3
8.4
67
314
N07XX02
ATC
riluzole; oral
+∞
8.4
8
*
NE1AD
NOMESCO Finland
Pelvis and hip bones CT examination
4.3
8.1
21
51
G04BD12
ATC
mirabegron; oral
2.2
7.9
74
370
N05CD07
ATC
temazepam; oral
2.2
7.8
74
372
Z3229
NOMESCO Finland
Other healthcare associate professional
2.4
7.8
53
231
G04BD07
ATC
tolterodine; oral
3.0
7.7
35
124
XKD06
NOMESCO Finland
Physiologic investigation of micturition
3.5
7.6
26
77
G72.9
ICD-10 Finland
Myopathy, unspecified
9.1
7.6
15
17
R2120
NOMESCO Finland
Counselling and guidance concerning rehabilitation services and social security
10.2
7.6
14
14
W19
ICD-10 Finland
Unspecified fall
2.3
7.5
59
274
S01EC01
ATC
acetazolamide; systemic
4.0
7.5
21
54
F32.9
ICD-10 Finland
Depressive episode, unspecified
2.2
7.5
65
316
G04BD04
ATC
oxybutynin; oral, transdermal
2.6
7.4
42
168
NH1AA
NOMESCO Finland
Ankle X-ray examination without contrast
2.6
7.3
44
181
ABD40
NOMESCO Finland
Implantation of spinal injection device
+∞
7.3
7
*
G12.2
ICD-10 Finland
Motor neuron disease
+∞
7.3
7
*
JN3AA
NOMESCO Finland
Abdominal X-ray examination without contrast
3.2
7.3
29
95
SPAT1217
SPAT
Assessment of need for services (elderly/care support)
2.5
7.2
48
207
SPAT1167
SPAT
Insertion of urinary catheter
3.6
7.2
24
70
L19
ICPC
Muscle symptom/complaint NOS
3.9
7.2
21
56
G25.0
ICD-10 Finland
Essential tremor
3.6
7.1
23
66
R30.1
ICD-10 Finland
Vesical tenesmus
4.5
7.0
17
39
R33
ICD-10 Finland
Retention of urine
2.2
7.0
58
276
G04BD09
ATC
trospium; oral
4.1
6.9
19
48
NA7DG
NOMESCO Finland
Spine and spinal cord very extensive MRI examination with high intensity magnet
6.8
6.9
16
24
R26.2
ICD-10 Finland
Difficulty in walking, not elsewhere classified
5.8
6.8
18
32
C07AA05
ATC
propranolol; systemic
1.9
6.7
100
589
N39.0
ICD-10 Finland
Urinary tract infection, site not specified
2.0
6.7
85
475
TKC22
NOMESCO Finland
Catheterisation instruction
3.8
6.7
20
54
NXL00
NOMESCO Finland
Biopsy of muscle
22.9
6.7
9
*
N30.0
ICD-10 Finland
Acute cystitis
2.0
6.6
81
447
Z2446
NOMESCO Finland
Social worker
2.4
6.5
44
191
N06AG02
ATC
moclobemide; oral
3.1
6.5
27
91
N06AB04
ATC
citalopram; systemic
1.8
6.4
105
638
N19
ICPC
Speech disorder
6.7
6.4
15
23
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
1.7
6.3
148
994
Z50.1
ICD-10 Finland
Other physical therapy
2.7
6.3
34
132
A06AD11
ATC
lactulose; oral
1.9
6.3
88
507
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
2.2
6.3
56
274
G62.1
ICD-10 Finland
Alcoholic polyneuropathy
18.3
6.3
9
5
S82.6
ICD-10 Finland
Fracture of lateral malleolus
2.6
6.3
37
151
3348X
ICD-9 Finland
Spinocerebellar disease, Other spinocerebellar diseases
+∞
6.3
6
*
SPAT1216
SPAT
Assessment of functional ability
1.9
6.3
79
441
AA5EN
NOMESCO Finland
Brain reseptor or transprot protein distribution isotope imaging
27.0
6.2
8
*
N03AX16
ATC
[U] pregabalin
1.8
6.2
115
723
SPAT1231
SPAT
Assessment of adjustments needed in living environment
5.1
6.2
18
36
J69.0
ICD-10 Finland
Pneumonitis due to food and vomit
5.1
6.2
18
36
F10.09
ICD-10 Finland
Alcohol intoxication UNS
4.1
6.2
17
43
N06AX16
ATC
venlafaxine; oral
2.0
6.2
68
361
T36
ICD-10 Finland
Poisoning by systemic antibiotics
3.1
6.2
26
88
OAB43, ,
SPAT
0.4
6.2
35
766
H54.2
ICD-10 Finland
Moderate visual impairment, binocular
12.7
6.1
10
8
R69
ICD-10 Finland
Unknown and unspecified causes of morbidity
5.3
6.1
17
33
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
224
1365
2.16
15.51
2.7
2.1
222.35
281.34
u/l
0.28
212
1293
39
96
4.32
14.73
1.2
1.9
4.07
22.36
e6/l
1.08
30
73
39
97
4.27
14.53
1.3
1.9
585.22
1277.51
e6/l
0.24
32
76
86
375
2.56
12.79
1.7
3.1
67.44
66.55
g/l
0.58
80
348
21
16
13.64
12.53
1.6
1.5
99.60
63.14
nmol/l
0.62
15
11
24
45
5.55
12.41
1.0
1.1
—
—
—
0
0
22
25
9.15
10.87
1.0
1.0
—
—
—
0
0
20
38
5.44
10.19
1.0
1.1
—
—
—
0
0
130
737
2.03
10.15
1.7
1.7
1052.29
1171.85
nmol/l
0.78
108
565
22
48
4.75
9.62
1.0
1.1
—
—
—
0
0
25
61
4.26
9.54
1.0
1.1
1.08
14.30
iu/ml
—
12
10
263
1903
1.80
9.48
2.4
2.2
92.00
95.38
pmol/l
0.58
156
1003
192
1302
1.77
8.35
1.8
1.7
20.37
20.28
nmol/l
0.03
168
1090
16
22
7.47
7.24
1.1
1.3
0.54
0.48
ratio
—
10
10
287
2232
1.67
7.18
8.4
8.2
1.22
1.21
mmol/l
0.61
258
1938
15
22
6.99
6.56
1.0
1.0
0.96
1.01
u/l
—
8
14
251
1949
1.57
5.85
5.8
5.4
35.49
35.47
g/l
0.02
233
1828
350
3947
0.63
5.18
5.4
5.2
1.41
1.43
mmol/l
0.45
331
3642
37
167
2.31
5.08
1.9
2.1
524.54
546.52
ug/l
0.02
37
162
115
767
1.65
4.93
2.1
2.0
—
—
—
0
0
251
2001
1.51
4.88
7.9
7.6
1.22
1.21
mmol/l
0.24
228
1838
135
950
1.58
4.62
1.3
1.3
0.74
1.40
u/ml
2.18
37
255
356
3965
0.65
4.40
5.4
5.3
4.48
4.53
mmol/l
0.43
334
3682
128
904
1.56
4.28
1.7
1.8
168067678.87
20905897.73
pmol/l
0.66
119
751
155
1143
1.51
4.25
2.4
2.3
2.76
2.97
mg/l
0.54
134
984
70
430
1.73
4.06
6.2
8.6
1.32
1.35
mmol/l
0.12
65
425
79
505
1.67
3.96
2.4
1.8
1.95
1.49
%
1.77
72
434
339
3784
0.68
3.82
4.5
4.4
1.34
1.28
mmol/l
0.85
317
3471
366
4024
0.67
3.78
5.9
6.0
2.64
2.64
mmol/l
0.01
338
3719
9
16
5.71
3.67
1.6
1.3
—
—
—
0
0
225
1845
1.40
3.35
2.9
2.6
75.60
76.66
nmol/l
0.21
203
1649
14
48
2.97
3.32
1.1
1.1
—
—
—
0
0
37
200
1.92
3.26
3.5
1.5
0.51
0.31
mg/l
0.59
15
83
85
581
1.56
3.24
2.0
1.9
—
—
—
0
0
77
531
1.53
2.82
4.8
9.3
11.44
11.91
kpa
0.36
71
516
77
531
1.53
2.82
4.8
9.3
5.24
5.13
kpa
0.30
71
513
7
14
5.05
2.73
1.0
1.1
—
—
—
0
0
7
14
5.05
2.73
1.0
1.1
—
—
—
0
0
71
1004
0.66
2.71
3.0
3.3
0.68
0.79
ug/l
0.55
50
654
71
488
1.53
2.65
8.5
6.9
—
—
—
0
0
20
93
2.20
2.64
1.3
1.2
—
1.03
—
0
6
7
15
4.72
2.60
1.0
1.2
—
—
—
0
0
351
3819
0.73
2.56
7.4
6.7
40.42
39.65
mmol/mol
0.68
329
3566
12
44
2.77
2.56
1.4
1.2
—
—
—
0
0
22
108
2.08
2.55
1.3
1.2
—
—
—
0
0
359
3888
0.73
2.49
21.9
16.4
81.52
79.76
ml/min/173m2
0.72
327
3619
8
21
3.85
2.47
1.6
1.2
—
—
—
0
0
8
21
3.85
2.47
1.6
1.2
—
—
—
0
0
9
27
3.37
2.40
1.6
1.3
—
—
—
0
0
9
27
3.37
2.40
1.6
1.3
—
—
—
0
0
279
2446
1.32
2.40
8.6
10.7
4.45
4.15
e9/l
1.18
240
2127
5
8
6.30
2.37
1.0
1.4
—
—
—
0
0
241
2074
1.31
2.36
16.5
14.5
1.24
1.27
inr
0.29
199
1730
29
165
1.80
2.24
1.7
2.0
—
—
—
0
0
26
143
1.86
2.23
1.3
1.3
—
—
—
0
0
362
3893
0.75
2.16
5.6
5.3
6.03
6.00
mmol/l
0.18
329
3569
47
686
0.65
2.08
1.4
1.5
—
—
—
0
0
5
10
5.04
2.07
1.0
1.2
—
—
—
0
0
6
15
4.03
2.04
1.0
1.1
—
—
—
0
0
308
3374
0.78
2.03
27.1
21.8
13.86
13.69
%
1.25
303
3335
125
999
1.33
2.02
5.6
4.1
1.02
1.02
kg/l
0.07
88
672
109
1364
0.74
2.01
5.4
4.7
18.59
21.80
%
1.82
51
662
419
4392
0.72
1.88
33.7
26.2
132.31
135.42
g/l
3.97
411
4342
26
152
1.75
1.87
1.9
1.8
—
—
—
0
0
419
4391
0.73
1.86
34.0
26.7
39.48
40.43
%
2.82
411
4338
419
4391
0.73
1.86
33.4
26.0
4.42
4.49
e12/l
2.36
404
4294
6
17
3.56
1.84
4.2
2.8
0.59
0.60
mmol/l
—
6
17
419
4389
0.73
1.83
33.2
26.1
258.72
244.89
e9/l
3.66
407
4308
419
4389
0.73
1.83
33.3
26.0
90.87
91.16
fl
0.60
411
4340
45
306
1.52
1.80
4.2
5.6
1.59
1.58
mmol/l
0.01
38
235
73
546
1.39
1.79
2.2
2.0
—
—
—
0
0
71
529
1.40
1.78
5.0
9.4
0.70
0.93
mmol/l
0.19
55
441
46
318
1.49
1.72
1.8
1.6
—
—
—
0
0
284
2564
1.25
1.67
6.8
5.8
6.77
6.70
mmol/l
0.26
269
2443
6
19
3.18
1.66
1.5
3.1
229.17
211.32
u/l
—
6
19
32
206
1.59
1.64
3.8
7.4
1.60
1.56
%
0.08
27
194
65
486
1.39
1.61
7.2
4.6
1.34
1.66
mmol/l
0.39
58
415
80
619
1.35
1.61
9.1
6.9
1.09
1.06
mmol/l
0.39
75
577
173
1483
1.25
1.60
2.8
3.5
2.37
2.35
mmol/l
0.78
145
1347
42
290
1.49
1.59
2.0
1.7
—
—
—
0
0
6
20
3.02
1.58
1.2
1.1
—
—
—
0
0
161
1373
1.25
1.55
3.4
2.7
50.97
61.64
u/l
1.99
152
1287
97
776
1.31
1.55
3.2
2.6
11.87
12.82
umol/l
0.68
88
727
22
130
1.72
1.55
1.4
1.3
—
—
—
0
0
5
15
3.36
1.52
1.0
1.1
—
—
—
0
0
16
86
1.89
1.52
1.5
1.4
—
—
—
0
0
16
86
1.89
1.52
1.5
1.4
—
—
—
0
0
10
45
2.25
1.47
2.8
2.8
—
—
—
0
0
6
22
2.75
1.44
1.0
1.0
1532.00
1508.77
miu/ml
—
6
22
6
22
2.75
1.44
1.7
1.6
—
—
—
0
0
121
1008
1.26
1.42
3.0
2.8
4.43
4.54
e6/l
0.05
113
920
332
3079
1.23
1.40
4.2
4.1
15.19
14.82
pmol/l
1.58
301
2786
146
1245
1.24
1.40
5.4
4.0
0.00
0.01
estimate
0.78
38
412
150
1734
0.81
1.39
2.2
2.0
1.31
1.33
mmol/l
0.20
125
1447
49
359
1.40
1.39
4.9
5.3
5.28
5.09
kpa
0.92
49
345
5
17
2.96
1.36
2.0
2.5
42.96
40.19
g/l
—
5
17
89
720
1.29
1.32
3.3
2.6
2.28
2.29
g/l
0.02
83
668
169
1472
1.22
1.32
4.8
3.6
30.17
34.57
u/l
1.01
161
1391
219
1958
1.21
1.31
2.8
2.9
—
—
estimate
—
0
0
25
161
1.58
1.31
3.6
2.9
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
6
24
2.52
1.30
1.0
1.2
—
—
—
0
0
147
1690
0.82
1.28
5.7
5.7
2.41
2.91
ug/l
0.42
124
1530
347
3250
1.22
1.25
10.2
8.6
84.12
82.58
u/l
0.18
328
3075
84
680
1.28
1.24
3.4
2.6
21.46
22.69
%
0.46
78
642
11
56
1.99
1.23
1.7
2.0
—
—
—
0
0
216
1940
1.20
1.21
3.4
3.0
109.17
135.25
ug/l
1.78
198
1809
123
1046
1.23
1.20
2.6
2.5
—
—
—
0
0
0
35
0.00
1.15
0.0
1.1
—
17.01
—
0
15
5
20
2.51
1.15
1.0
1.1
—
—
—
0
0
78
633
1.27
1.14
7.3
7.7
104.42
104.33
mmol/l
0.05
78
633
254
2325
1.19
1.13
7.6
7.3
11.86
12.05
umol/l
0.06
243
2225
105
885
1.24
1.11
2.7
3.0
2.46
2.45
mmol/l
0.49
90
798
7
31
2.28
1.10
2.1
2.8
—
—
—
0
0
5
21
2.39
1.09
1.0
1.2
—
—
—
0
0
7
33
2.14
1.06
1.1
1.3
146.20
160.48
pmol/l
—
7
33
416
4301
0.81
0.98
28.8
22.4
81.28
79.90
umol/l
0.18
408
4251
0
30
0.00
0.97
0.0
1.3
—
—
—
0
0
9
51
1.78
0.95
1.9
2.0
—
—
—
0
0
8
146
0.54
0.94
7.4
4.1
2.97
3.52
g/l
—
8
141
6
29
2.08
0.89
10.8
2.1
14.42
13.33
%
—
6
29
10
56
1.80
0.88
1.8
1.4
—
—
—
0
0
55
444
1.27
0.87
2.3
2.2
360.88
392.68
nmol/l
0.73
49
413
412
4253
0.83
0.87
14.8
12.7
26.31
26.58
u/l
0.08
394
4135
45
355
1.29
0.85
1.5
1.5
—
—
—
0
0
10
57
1.77
0.84
1.9
1.4
—
—
—
0
0
10
57
1.77
0.84
1.9
1.4
—
—
—
0
0
6
32
1.89
0.82
1.0
1.2
100.83
101.53
pmol/l
—
6
32
22
156
1.43
0.80
5.9
6.5
1.87
1.51
mg/l
0.61
22
141
10
58
1.74
0.80
1.9
1.4
—
—
—
0
0
10
58
1.74
0.80
1.9
1.4
—
—
—
0
0
10
58
1.74
0.80
1.9
1.4
—
—
—
0
0
0
24
0.00
0.79
0.0
1.2
—
—
—
0
0
0
25
0.00
0.79
0.0
3.6
—
126.68
—
0
25
14
90
1.57
0.79
1.4
1.4
224.14
256.70
u/ml
—
7
44
14
91
1.55
0.76
3.1
4.3
730.01
505.93
u/ml
0.12
14
86
8
135
0.59
0.74
1.1
2.0
190.75
220.90
pmol/l
—
8
127
8
136
0.58
0.74
2.4
1.2
0.86
0.89
g/l
—
8
136
5
25
2.01
0.73
1.2
1.5
—
—
—
0
0
13
84
1.56
0.72
1.6
1.4
—
—
—
0
0
7
40
1.76
0.71
1.3
1.2
—
—
—
0
0
46
375
1.25
0.69
2.7
2.3
3.66
7.71
ug/l
2.87
40
331
392
4041
0.86
0.66
24.5
17.3
28.69
24.73
mg/l
1.22
332
3337
30
233
1.31
0.66
1.6
1.4
—
—
—
0
0
159
1456
1.13
0.64
4.4
3.6
49.83
93.90
e6/l
0.44
128
1123
8
50
1.61
0.61
1.1
1.2
—
—
—
0
0
17
122
1.41
0.61
1.4
1.8
—
—
—
0
0
0
20
0.00
0.60
0.0
4.3
—
10.54
—
0
20
0
20
0.00
0.60
0.0
1.4
—
—
—
0
0
0
20
0.00
0.60
0.0
4.3
—
4.93
—
0
20
0
21
0.00
0.60
0.0
6.3
—
35.00
—
0
5
109
1209
0.87
0.59
4.0
3.4
0.00
0.01
estimate
0.99
30
354
87
978
0.87
0.57
1.7
2.0
0.94
1.32
mg/l
1.03
65
767
18
134
1.36
0.53
1.4
1.4
203.33
298.79
ug/g
1.31
12
80
9
63
1.44
0.52
1.7
1.4
—
—
—
0
0
104
1147
0.88
0.52
3.2
3.1
355.97
353.15
umol/l
0.07
93
1005
58
667
0.85
0.52
1.3
1.3
2.88
12.17
u/ml
2.09
25
237
9
65
1.39
0.51
1.1
1.2
—
—
—
0
0
28
345
0.80
0.50
2.0
2.1
—
—
—
0
0
17
127
1.35
0.50
1.7
1.6
—
—
—
0
0
235
2230
1.10
0.48
5.2
4.0
0.00
3.51
estimate
0.50
42
463
13
93
1.41
0.48
1.4
1.4
—
—
—
0
0
17
129
1.33
0.46
2.2
1.2
—
—
—
0
0
32
380
0.83
0.42
2.2
2.2
—
—
—
0
0
5
33
1.52
0.41
1.0
1.5
49.18
25.54
u/l
—
5
26
5
33
1.52
0.41
1.6
2.4
231.80
163.09
e6/l
—
5
23
67
747
0.88
0.41
1.3
1.3
29.76
33.39
iu/ml
0.10
16
236
96
878
1.12
0.41
4.8
4.1
143.44
377.58
ng/l
1.42
73
711
0
17
0.00
0.40
0.0
1.1
—
—
—
0
0
236
2255
1.09
0.40
5.4
4.0
0.00
0.00
estimate
0.50
38
428
0
18
0.00
0.40
0.0
1.1
—
—
—
0
0
7
102
0.68
0.40
1.1
1.3
—
—
—
0
0
41
470
0.86
0.37
1.4
1.5
—
—
—
0
0
9
70
1.29
0.37
1.2
1.1
1.52
1.43
g/l
—
9
64
38
329
1.17
0.36
3.4
4.0
1.22
1.22
mmol/l
0.38
31
280
18
146
1.24
0.32
1.3
4.2
1.17
3.15
ratio
1.91
11
83
15
187
0.80
0.32
1.1
1.3
—
—
—
0
0
58
525
1.12
0.31
4.9
5.0
30.83
31.80
%
0.35
41
340
132
1246
1.08
0.30
4.4
3.4
0.47
0.51
e6/l
0.08
105
920
7
55
1.28
0.30
1.1
1.0
—
—
—
0
0
318
3099
1.07
0.29
5.1
4.4
12.71
12.45
mm/h
0.11
298
2867
231
2393
0.94
0.29
2.8
3.0
—
—
—
0
0
14
112
1.26
0.28
1.1
1.1
—
15.78
—
0
12
377
3702
1.07
0.26
5.6
5.2
1.91
1.97
mu/l
0.55
346
3369
84
783
1.09
0.26
4.0
3.1
0.89
0.94
e6/l
0.07
52
426
162
1550
1.07
0.26
5.2
3.4
7.00
7.75
mmol/l
1.46
139
1295
5
75
0.66
0.26
1.4
1.7
—
—
—
0
0
47
427
1.11
0.24
3.4
2.6
29.23
36.20
u/l
1.06
39
354
228
2209
1.06
0.24
5.1
4.0
0.00
0.00
estimate
-0.00
44
447
6
81
0.74
0.24
1.5
2.0
—
—
—
0
0
21
243
0.86
0.23
1.2
1.2
159.90
119.60
u/ml
—
8
98
5
38
1.32
0.23
1.0
1.0
—
—
—
0
0
155
1487
1.06
0.23
4.6
4.1
21.97
9.30
mg/mmol
0.87
103
946
7
92
0.76
0.22
1.7
1.6
—
—
—
0
0
10
79
1.27
0.22
3.7
4.5
—
1019.57
—
0
7
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
26.57
—
0
11
(3011547) Coagulation factor VII activity actual/normal in Platelet poor plasma by Coagulation assay
0
11
0.00
0.21
0.0
1.1
—
120.18
—
0
11
0
10
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.5
—
13.40
—
0
5
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
6.93
—
0
10
0
10
0.00
0.21
0.0
3.3
—
40.70
—
0
10
0
10
0.00
0.21
0.0
2.3
—
2.76
—
0
5
0
12
0.00
0.21
0.0
1.2
—
101.71
—
0
7
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
10.5
—
10.88
—
0
12
0
12
0.00
0.21
0.0
1.1
—
87.43
—
0
7
0
13
0.00
0.21
0.0
9.7
—
6.06
—
0
13
10
80
1.26
0.20
3.8
2.8
7.94
8.61
pmol/l
—
10
80
(40770918) von Willebrand factor (vWf).activity actual/normal in Platelet poor plasma by Immunoassay
0
14
0.00
0.20
0.0
3.0
—
114.79
—
0
14
411
4158
0.94
0.20
27.3
20.8
3.96
3.99
mmol/l
1.64
402
4069
40
436
0.91
0.19
2.1
2.5
16.48
13.39
nmol/l
0.94
30
403
281
2752
1.05
0.18
5.0
3.6
54.79
51.31
u/l
0.13
263
2593
411
4154
0.94
0.18
27.1
20.6
139.53
139.70
mmol/l
0.54
404
4071
77
733
1.06
0.15
4.2
3.2
4.09
1.74
e6/l
0.52
45
379
16
140
1.15
0.15
1.6
2.1
13.09
3.79
mg/l
—
9
109
14
121
1.16
0.15
1.6
1.9
—
—
—
0
0
10
118
0.84
0.14
1.3
1.5
—
—
—
0
0
9
109
0.82
0.13
1.6
1.6
—
—
—
0
0
13
114
1.14
0.12
1.1
1.2
—
—
—
0
0
13
115
1.13
0.10
1.1
1.2
—
—
—
0
0
13
146
0.89
0.10
2.9
2.2
—
—
—
0
0
172
1686
1.03
0.10
5.4
3.9
0.00
0.04
estimate
1.87
33
381
5
46
1.09
0.09
1.0
1.2
—
—
—
0
0
11
124
0.88
0.09
3.5
2.4
232.00
95.81
ug/min
—
6
68
11
97
1.14
0.09
1.3
1.4
—
—
—
0
0
16
175
0.91
0.08
3.1
2.2
—
—
—
0
0
7
66
1.06
0.08
1.1
1.2
—
—
—
0
0
12
133
0.90
0.07
1.3
1.7
—
—
—
0
0
12
108
1.11
0.07
1.3
1.3
—
—
—
0
0
9
86
1.05
0.07
1.2
1.3
0.72
0.99
nmol/l
—
9
71
8
91
0.88
0.07
1.5
1.6
—
—
—
0
0
8
92
0.87
0.07
2.0
1.6
—
—
—
0
0
20
187
1.07
0.06
1.1
1.0
—
—
—
0
0
35
338
1.04
0.04
4.4
2.8
52.47
65.77
ml/min/173m2
0.98
15
150
170
1716
0.99
0.03
5.4
4.0
32.06
75.77
ng/l
0.71
133
1259
56
548
1.02
0.03
5.3
3.3
10.40
8.65
umol/l
0.22
48
495
12
128
0.94
0.02
1.6
1.9
—
—
—
0
0
44
450
0.98
0.02
3.9
3.4
—
—
—
0
0
163
1620
1.01
0.01
5.5
4.3
250.42
110.55
e6/l
0.44
129
1167
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
14
133
1.05
0.01
2.6
6.1
0.38
0.34
iu/ml
—
5
78
144
1447
0.99
0.00
2.9
3.4
1641.88
1371.89
ng/l
0.16
120
1238
12
123
0.98
0.00
1.2
1.8
—
—
—
0
0
47
473
0.99
0.00
4.5
4.7
4.28
34.08
ug/l
1.13
40
403
11
109
1.01
0.00
2.5
1.2
—
—
—
0
0
5
55
0.91
-0.00
1.0
1.9
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
9
95
0.95
-0.00
2.2
1.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
5.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
(3002348) Coagulation factor XII activity actual/normal in Platelet poor plasma by Coagulation assay
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
3.9
—
148.88
—
0
8
5
59
0.85
-0.00
1.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
56
0.89
-0.00
1.2
1.3
0.40
0.55
nmol/l
—
5
50
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
0.02
—
0
8
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
87.43
—
0
7
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
7
70
1.00
-0.00
1.4
1.5
—
—
—
0
0
5
56
0.89
-0.00
1.2
1.3
—
—
—
0
0
5
51
0.98
-0.00
1.6
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
113.60
—
0
5
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint G6_HERATAXIA and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_HERATAXIA | 2.78 [2.33, 3.31] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.092 |
During the follow-up period (1.1.1998 — 31.12.2019), 489 out of 1385 females with G6_HERATAXIA died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_HERATAXIA | 2.804 [2.44, 3.23] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.028 |
During the follow-up period (1.1.1998 — 31.12.2019), 747 out of 1691 males with G6_HERATAXIA died.
Mortality risk
Mortality risk for people of age
years, who have G6_HERATAXIA.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.192% | 0.608% |
| 5 | 1.332% | 3.537% |
| 10 | 3.554% | 8.971% |
| 15 | 6.657% | 16.761% |
| 20 | 11.625% | 27.207% |
Relationships between endpoints
↥Index endpoint: G6_HERATAXIA – Hereditary ataxia
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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