amyotrophic lateral sclerosis: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.
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. |
76 |
4. Check minimum number of eventsNone |
76 |
5. Include endpointsNone |
76 |
6. Filter based on genotype QC (FinnGen only) |
64 |
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
- G12
- Name in latin
- Alia atrophia musculorum spinalis congenita
Similar endpoints
↥List of similar endpoints to
Other inherited muscular atrophy
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 operation in hilmo
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 493 | 224 | 266 |
| Only index persons | 366 | 165 | 201 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 54.54 | 53.40 | 55.54 |
| Only index persons | 52.81 | 50.63 | 54.60 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 64 | 28 | 36 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.02 |
| Median age at first event (years) | 53.57 | 51.80 | 54.96 |
-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
- 66
- Matched controls
- 660
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G12.1
ICD-10 Finland
Other inherited spinal muscular atrophy
+∞
89.4
64
*
G12.9
ICD-10 Finland
Spinal muscular atrophy, unspecified
+∞
19.8
18
*
G12.2
ICD-10 Finland
Motor neuron disease
+∞
18.6
17
*
G12.8
ICD-10 Finland
Other spinal muscular atrophies and related syndromes
+∞
15.2
14
*
N99
ICPC
Neurological disease other
+∞
10.7
10
*
J96.1
ICD-10 Finland
Chronic respiratory failure
36.0
9.8
12
*
Z46.8
ICD-10 Finland
Fitting and adjustment of other specified devices
22.6
9.4
13
7
Z31.5
ICD-10 Finland
Genetic counselling
8.4
7.8
17
26
G62.9
ICD-10 Finland
Polyneuropathy, unspecified
15.9
7.7
12
9
G12.0
ICD-10 Finland
Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
+∞
7.4
7
*
N28
ICPC
Limited function/disability (N)
34.1
7.4
9
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
4.9
7.3
20
54
N03AE01
ATC
clonazepam; systemic
11.0
6.6
12
13
M41.4
ICD-10 Finland
Neuromuscular scoliosis
+∞
6.3
6
*
G71.08
ICD-10 Finland
Other muscular dystrophy
+∞
6.3
6
*
N07XX02
ATC
riluzole; oral
+∞
6.3
6
*
L28
ICPC
Limited function/disability (L)
4.1
6.2
22
72
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
6
5
13.00
3.84
8.8
2.4
1.70
3.36
mg/l
—
6
5
24
110
2.86
3.78
4.7
2.6
0.64
1.02
e6/l
0.36
18
59
21
96
2.74
3.27
4.9
2.6
3.11
0.58
e6/l
0.97
14
45
11
31
4.05
3.17
5.9
5.7
25.08
24.86
mmol/l
0.07
11
31
7
17
4.47
2.43
8.6
1.3
330.29
394.06
mg/l
—
7
17
0
60
0.00
2.39
0.0
1.7
—
1.42
—
0
54
14
70
2.27
1.75
6.0
7.3
105.86
105.03
mmol/l
0.25
14
70
5
15
3.51
1.55
1.6
5.5
156.40
162.40
%
—
5
15
31
237
1.58
1.00
2.1
1.9
91.74
96.78
pmol/l
0.23
17
111
36
290
1.53
0.89
4.9
3.9
0.00
0.00
estimate
—
5
46
27
207
1.52
0.83
5.6
3.3
—
—
—
0
0
24
180
1.52
0.81
4.3
3.5
31.50
32.27
u/l
0.05
24
167
20
145
1.54
0.78
3.6
3.1
0.40
0.00
estimate
—
5
39
23
173
1.51
0.76
1.7
3.3
3282.31
1503.23
ng/l
0.44
16
147
14
95
1.60
0.71
1.9
5.0
0.81
0.81
mmol/l
0.06
14
90
20
149
1.49
0.69
1.6
1.7
19.93
22.71
nmol/l
0.33
13
118
18
133
1.49
0.64
1.5
2.7
—
—
—
0
0
27
217
1.41
0.62
4.0
3.8
0.60
0.00
estimate
—
5
40
0
20
0.00
0.61
0.0
1.4
—
—
—
0
0
0
20
0.00
0.61
0.0
1.2
—
—
—
0
0
30
354
0.72
0.59
3.4
3.4
—
—
—
0
0
10
68
1.55
0.50
10.5
5.1
1.93
1.35
mmol/l
—
10
54
19
150
1.37
0.47
1.4
1.6
0.50
0.73
u/ml
—
7
35
13
170
0.71
0.45
6.6
4.5
22.60
22.15
%
—
8
83
0
15
0.00
0.42
0.0
1.9
—
—
—
0
0
0
15
0.00
0.42
0.0
1.0
—
—
—
0
0
0
16
0.00
0.41
0.0
1.3
—
6.22
—
0
16
0
17
0.00
0.41
0.0
1.5
—
—
—
0
0
5
36
1.42
0.39
10.2
9.0
0.58
0.68
%
—
5
36
5
36
1.42
0.39
10.2
9.1
0.94
1.43
%
—
5
36
56
586
0.71
0.34
29.8
24.9
41.20
40.77
%
0.32
56
580
56
586
0.71
0.34
28.8
24.4
90.13
90.73
fl
0.58
56
580
56
586
0.71
0.34
29.1
24.6
136.54
135.99
g/l
0.10
56
580
49
521
0.77
0.33
5.8
5.9
3.10
2.68
mmol/l
2.52
44
481
7
51
1.42
0.33
20.7
9.6
24.14
25.32
mmol/l
—
7
51
29
255
1.24
0.32
2.1
2.9
—
—
estimate
—
0
0
48
510
0.78
0.31
4.3
5.2
5.84
5.91
mmol/l
0.13
42
467
51
536
0.79
0.27
20.2
16.6
28.96
23.17
mg/l
0.47
46
433
48
507
0.80
0.26
5.2
5.2
1.38
1.46
mmol/l
0.74
43
466
19
217
0.83
0.23
7.6
5.2
2.00
1.87
ug/l
0.08
19
190
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.9
—
94.58
—
0
6
0
13
0.00
0.21
0.0
1.3
—
—
—
0
0
0
14
0.00
0.20
0.0
3.9
—
0.00
—
0
14
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
0
14
0.00
0.20
0.0
1.3
—
—
—
0
0
8
70
1.16
0.17
4.6
7.7
—
—
—
0
0
7
86
0.79
0.15
1.1
1.6
—
—
—
0
0
56
574
0.84
0.11
24.0
20.4
50.73
76.93
umol/l
8.17
56
563
5
44
1.15
0.10
2.0
2.3
—
—
—
0
0
5
46
1.09
0.10
1.0
1.7
—
—
—
0
0
10
112
0.87
0.08
1.2
3.2
2.39
2.45
mmol/l
—
10
96
48
493
0.90
0.08
17.0
15.9
101.61
80.72
ml/min/173m2
2.82
41
456
7
81
0.85
0.07
1.1
1.7
—
—
—
0
0
10
110
0.89
0.05
1.1
1.8
—
—
—
0
0
47
459
1.08
0.05
23.5
21.5
330.81
332.62
g/l
0.63
47
459
50
510
0.92
0.05
5.0
5.2
5.07
4.59
mmol/l
2.39
44
472
56
553
1.08
0.02
20.8
18.2
139.55
139.86
mmol/l
0.34
56
540
56
553
1.08
0.02
21.1
18.3
3.90
3.97
mmol/l
1.12
56
538
17
169
1.01
0.00
1.8
3.1
53.06
54.21
u/l
0.04
17
159
49
493
0.98
0.00
4.2
4.3
1.73
1.28
mmol/l
1.66
44
449
51
505
1.04
0.00
5.6
6.2
38.68
39.11
mmol/mol
0.12
46
476
12
115
1.05
0.00
1.4
1.7
—
—
—
0
0
12
125
0.95
0.00
1.7
2.2
0.47
1.75
mg/l
—
7
101
23
226
1.03
0.00
2.8
3.7
37.65
51.60
ng/l
0.34
17
164
0
8
0.00
0.00
0.0
1.8
—
—
—
0
0
0
8
0.00
0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
8
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
8
0.00
0.00
0.0
1.8
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
50
1.00
-0.00
1.6
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
9
0.00
-0.00
0.0
6.3
—
793.33
—
0
9
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
10.23
—
0
6
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
9
89
1.01
-0.00
6.2
6.2
1.20
1.09
mmol/l
—
9
75
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
7
72
0.97
-0.00
2.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint G6_OTHINMUSC and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_OTHINMUSC | 7.832 [4.76, 12.89] | < 0.001 |
| Birth year | 0.996 [0.99, 1.0] | 0.382 |
During the follow-up period (1.1.1998 — 31.12.2019), 79 out of 175 females with G6_OTHINMUSC died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_OTHINMUSC | 4.599 [2.98, 7.1] | < 0.001 |
| Birth year | 0.985 [0.98, 0.99] | 0.002 |
During the follow-up period (1.1.1998 — 31.12.2019), 96 out of 221 males with G6_OTHINMUSC died.
Mortality risk
Mortality risk for people of age
years, who have G6_OTHINMUSC.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.862% | 0.937% |
| 5 | 4.731% | 4.767% |
| 10 | 12.211% | 12.079% |
| 15 | 21.247% | 21.337% |
| 20 | 34.039% | 34.049% |
Relationships between endpoints
↥Index endpoint: G6_OTHINMUSC – Other inherited muscular atrophy
GWS hits: 11
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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