Other inherited muscular atrophy

G6_OTHINMUSC

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.

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 G12.1
  • Hospital discharge: ICD-9 3351A
  • Cause of death: ICD-10 G12.1
  • Cause of death: ICD-9 3351A

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

64

4. Check minimum number of events

None

64

5. Include endpoints

None

64

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

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 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) 53.12 51.80 54.14

-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
56
Matched controls
562
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G12.1
ICD-10 Finland
Other inherited spinal muscular atrophy
+∞
77.5
55
*
G12.2
ICD-10 Finland
Motor neuron disease
+∞
16.4
15
*
G12.8
ICD-10 Finland
Other spinal muscular atrophies and related syndromes
+∞
13.0
12
*
G12.9
ICD-10 Finland
Spinal muscular atrophy, unspecified
+∞
11.9
11
*
Z31.5
ICD-10 Finland
Genetic counselling
19.7
11.4
17
12
G12.0
ICD-10 Finland
Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
+∞
7.4
7
*
Z46.8
ICD-10 Finland
Fitting and adjustment of other specified devices
35.0
7.4
9
*
G62.9
ICD-10 Finland
Polyneuropathy, unspecified
19.8
7.0
10
6
J96.1
ICD-10 Finland
Chronic respiratory failure
26.2
6.9
9
*
M41.4
ICD-10 Finland
Neuromuscular scoliosis
+∞
6.4
6
*

LabWAS

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
unit
cases
controls
-log10(p)
N cases
N controls
(3022313) Gas panel - Capillary blood
12
26
5.45
5.52
5.1
7.2
—
—
—
0
0
(3004490) Bicarbonate [Moles/volume] standard in Capillary blood
11
28
4.54
4.17
5.6
5.9
mmol/l
25.1
25.1
0.02
11
28
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
22
98
2.90
3.65
3.6
2.3
e6/l
0.6
1.1
0.41
16
55
(3016018) Differential panel - Cerebral spinal fluid
6
6
10.85
3.57
8.0
1.0
—
—
—
0
0
(3044290) Cell count panel - Cerebral spinal fluid
7
13
5.90
2.95
8.1
1.1
—
—
—
0
0
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
19
87
2.68
2.94
3.8
2.3
e6/l
3.3
0.6
0.95
13
44
(3023410) Appearance of Cerebral spinal fluid
6
10
6.48
2.76
9.3
1.2
—
—
—
0
0
(3019473) Protein [Mass/volume] in Cerebral spinal fluid
7
15
5.10
2.68
7.9
1.3
mg/l
325.7
385.0
—
7
15
(3007853) Bacteria identified in Skin by Aerobe culture
14
62
2.61
2.27
3.1
1.7
—
—
—
0
0
(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma
0
55
0.00
2.19
0.0
1.6
—
1.3
—
0
49
(3030366) Cystatin C [Mass/volume] in Serum or Plasma
6
16
4.02
1.98
11.8
8.6
mg/l
0.8
1.1
—
6
16
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
6
20
3.20
1.62
4.8
6.8
—
—
—
0
0
(3015736) pH of Urine
28
188
1.87
1.60
3.5
3.7
—
—
—
0
0
(3037121) Protein [Mass/volume] in Urine
6
22
2.90
1.47
11.8
3.3
g/l
0.2
0.2
—
6
11
(4034850)
5
17
3.10
1.38
8.8
11.9
—
—
—
0
0
(3000330) Specific gravity of Urine by Test strip
5
18
2.92
1.31
1.4
3.9
—
—
—
0
0
(3014576) Chloride [Moles/volume] in Serum or Plasma
11
58
2.08
1.21
4.4
6.6
mmol/l
105.9
104.6
0.32
11
58
(3027238) Thyroperoxidase Ab [Units/volume] in Serum or Plasma
0
34
0.00
1.20
0.0
1.2
—
212.2
—
0
15
(3026008) Bacteria identified in Urine by Culture
19
123
1.77
1.17
3.7
2.9
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
17
112
1.71
0.98
2.2
3.2
—
—
—
0
0
(3028026) IgM [Mass/volume] in Serum or Plasma
7
37
2.00
0.97
1.1
2.0
g/l
0.9
1.2
—
7
32
(3005719) IgG [Mass/volume] in Serum or Plasma
8
43
1.98
0.91
1.5
2.4
g/l
13.8
9.7
—
8
37
(3013742) Prealbumin [Mass/volume] in Serum or Plasma
8
47
1.80
0.84
1.7
2.7
g/l
0.2
0.2
—
8
42
(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma
22
161
1.56
0.84
4.0
3.1
u/l
32.4
28.3
0.40
22
148
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
17
117
1.62
0.83
1.4
2.5
—
—
—
0
0
(3020891) Body temperature
0
24
0.00
0.81
0.0
4.5
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
24
183
1.50
0.75
4.7
3.2
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
7
40
1.84
0.74
17.7
9.0
mmol/l
24.1
25.4
—
7
40
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
23
175
1.49
0.72
1.9
1.7
pmol/l
94.0
97.2
0.10
12
80
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
5
26
2.00
0.72
1.2
1.5
—
—
—
0
0
(3004588) Protein electrophoresis panel - Serum or Plasma
5
27
1.92
0.70
11.0
3.7
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
21
160
1.47
0.65
1.6
2.5
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
20
151
1.47
0.64
5.0
2.9
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
17
124
1.51
0.64
4.4
3.6
—
—
—
0
0
(3012544) pH of Venous blood
8
50
1.68
0.64
8.6
5.6
—
—
—
0
0
(3002032) Base excess in Venous blood by calculation
8
52
1.61
0.62
8.6
5.5
mmol/l
2.0
1.4
—
8
40
(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay
0
20
0.00
0.61
0.0
1.4
—
—
—
0
0
(3001019) Free T4 and TSH panel - Serum or Plasma
0
20
0.00
0.61
0.0
1.3
—
—
—
0
0
(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection
0
20
0.00
0.61
0.0
1.5
—
—
—
0
0
(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection
0
19
0.00
0.61
0.0
1.5
—
—
—
0
0
(3043409) Potassium [Moles/volume] in Arterial blood
0
19
0.00
0.61
0.0
3.4
—
4.0
—
0
19
(3013139) Helicobacter pylori Ag [Presence] in Stool
0
22
0.00
0.60
0.0
1.2
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
9
62
1.52
0.56
1.3
1.6
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
28
231
1.38
0.55
2.7
4.0
—
—
—
0
0
(40761535) Cells panel - Urine sediment
6
39
1.59
0.54
1.7
3.8
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
22
175
1.39
0.53
3.0
3.8
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
39
341
1.37
0.53
5.0
4.0
—
—
—
0
0
(3022145) Colonoscopy Study observation
7
48
1.51
0.49
1.4
1.4
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
17
131
1.41
0.49
1.4
1.3
—
—
—
0
0
(3002385) Erythrocyte distribution width [Ratio]
38
424
0.74
0.48
21.6
16.9
%
13.8
13.6
0.47
38
416
(3000991) Gas panel - Venous blood
7
49
1.48
0.48
15.7
8.4
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
30
344
0.76
0.45
3.3
3.4
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
15
115
1.40
0.44
3.3
5.2
—
—
—
0
0
(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection
0
15
0.00
0.42
0.0
1.4
—
—
—
0
0
(3005702) Mycobacterium sp identified in Specimen by Organism specific culture
0
15
0.00
0.42
0.0
1.2
—
—
—
0
0
(3048929) Epstein Barr virus Ab [Presence] in Serum
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
17
0.00
0.41
0.0
3.0
—
—
—
0
0
(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
17
0.00
0.41
0.0
3.0
—
3.7
—
0
12
(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum
0
18
0.00
0.40
0.0
1.0
—
—
—
0
0
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
16
126
1.36
0.40
1.2
1.5
u/ml
0.6
0.7
—
5
28
(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma
15
183
0.76
0.33
6.6
4.4
ug/l
1.4
1.7
0.54
15
156
(3012095) Magnesium [Moles/volume] in Serum or Plasma
10
75
1.40
0.32
1.9
5.3
mmol/l
0.8
0.8
—
10
70
(3000492) Spirometry study
7
54
1.33
0.32
1.3
1.6
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
6
82
0.70
0.26
1.8
1.6
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
7
93
0.72
0.24
1.1
1.8
—
—
—
0
0
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
17
197
0.81
0.24
2.5
3.5
ng/l
44.1
55.1
—
10
136
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
5
39
1.31
0.23
2.0
2.0
—
—
—
0
0
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
5
39
1.31
0.23
1.0
1.7
—
—
—
0
0
(3021879) Hepatitis B virus core Ab [Presence] in Serum
5
40
1.27
0.23
1.2
1.4
—
—
—
0
0
(3016650) Hepatitis A virus Ab [Presence] in Serum
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
(44806118)
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
(3050449) Albumin [Mass/time] in Urine collected for unspecified duration
0
11
0.00
0.21
0.0
2.1
—
94.6
—
0
6
(44790049)
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
11
0.00
0.21
0.0
3.3
—
76.2
—
0
11
(44790047)
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
(44790048)
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
(3039162) Centromere protein B Ab [Units/volume] in Serum
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
(40759836) Histone Ab [Presence] in Serum by Immunoblot
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(3042596) Human coronavirus RNA [Presence] in Specimen by NAA with probe detection
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
(3029634) Reagin Ab [Titer] in Serum by VDRL
0
10
0.00
0.21
0.0
1.8
—
—
—
0
0
(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma
0
10
0.00
0.21
0.0
1.5
—
—
—
0
0
(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection
0
10
0.00
0.21
0.0
1.7
—
—
—
0
0
(3011288) Drugs identified in Urine by Screen method
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
(3006184) Hemoglobin [Mass/volume] in Capillary blood
0
12
0.00
0.21
0.0
1.3
—
124.4
—
0
5
(3050238) Crystals [Presence] in Synovial fluid by Light microscopy
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis
0
12
0.00
0.21
0.0
3.4
—
0.0
—
0
12
(3000475) Leukocytes [#/volume] in Synovial fluid
0
12
0.00
0.21
0.0
1.4
—
4068.2
—
0
5
(3019225) pH of Specimen
6
48
1.28
0.21
2.8
4.4
—
—
—
0
0
(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells
0
13
0.00
0.21
0.0
1.7
—
—
—
0
0
(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection
0
13
0.00
0.21
0.0
1.4
—
—
—
0
0
(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing
0
13
0.00
0.21
0.0
1.5
—
—
—
0
0
(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence
0
14
0.00
0.20
0.0
1.0
—
—
—
0
0
(3016879) Cocaine [Presence] in Urine
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
(1001926) Buprenorphine [Presence] in Urine by Screen method
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
17
193
0.84
0.19
2.5
2.1
—
—
—
0
0
(3002256) Pathology report gross observation
7
59
1.21
0.19
1.3
1.3
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
5
66
0.74
0.18
1.4
1.2
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
45
469
0.86
0.14
18.1
15.0
%
40.5
40.8
0.08
33
360
(40758558) Short blood count panel - Blood
16
142
1.17
0.14
3.3
7.9
—
—
—
0
0
(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma
13
147
0.85
0.13
1.8
3.0
u/l
57.2
56.0
0.04
13
137
(40760892) CBC W Ordered Manual Differential panel - Blood
11
95
1.19
0.12
9.5
6.3
—
—
—
0
0
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
5
44
1.15
0.10
1.6
1.8
—
—
—
0
0
(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma
48
494
0.89
0.09
4.4
4.8
mmol/l
3.1
2.7
2.24
43
450
(3017143) Hepatitis C virus Ab [Presence] in Serum
7
64
1.11
0.08
1.4
1.4
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
7
66
1.07
0.08
4.7
7.9
—
—
—
0
0
(3020564) Creatinine [Moles/volume] in Serum or Plasma
54
528
1.15
0.08
14.7
16.0
umol/l
49.2
76.3
8.55
54
528
(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting
48
467
1.11
0.08
3.5
3.8
mmol/l
1.8
1.3
1.72
42
423
(3022096) Basophils/100 leukocytes in Blood
24
228
1.08
0.06
6.7
6.1
%
0.6
0.7
0.39
24
208
(3019900) Cholesterol [Moles/volume] in Serum or Plasma
49
480
1.09
0.05
3.9
4.3
mmol/l
5.1
4.6
2.14
44
441
(3044889) 12 lead EKG panel
31
320
0.94
0.04
2.6
3.7
—
—
—
0
0
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
49
499
0.92
0.04
16.1
14.6
mg/l
25.6
21.6
0.29
42
383
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
44
449
0.94
0.03
11.9
12.9
ml/min/173m2
101.5
82.1
2.53
37
361
(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma
47
478
0.94
0.02
4.1
4.3
mmol/l
1.4
1.5
0.72
42
435
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
11
103
1.08
0.02
1.3
1.6
—
—
—
0
0
(3018418) pH of Serum or Plasma
14
133
1.07
0.02
6.2
4.7
—
7.4
—
0
21
(1761868) Lipid panel - Serum or Plasma
17
163
1.06
0.01
3.5
2.6
—
—
—
0
0
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
46
467
0.95
0.01
3.7
4.5
mmol/l
5.9
5.9
0.06
40
429
(42870588) Differential panel, method unspecified - Blood
18
173
1.06
0.01
6.9
6.1
—
—
—
0
0
(3019150) Specific gravity of Urine by Refractometry
10
106
0.93
0.01
3.5
4.4
—
1.0
—
0
13
(3006504) Eosinophils/100 leukocytes in Blood
24
234
1.04
0.00
6.6
6.2
%
2.8
3.1
0.26
24
213
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
46
461
0.99
0.00
4.6
5.3
mmol/mol
38.8
39.0
0.06
40
432
(3019069) Monocytes/100 leukocytes in Blood
24
235
1.03
0.00
6.8
6.6
%
8.7
8.5
0.21
24
216
(3018010) Neutrophils/100 leukocytes in Blood
24
238
1.01
0.00
6.7
6.2
%
57.9
56.6
0.20
24
220
(3002030) Lymphocytes/100 leukocytes in Blood
24
244
0.97
0.00
6.9
6.3
%
25.3
28.4
0.88
24
224
(3013512) EKG study
13
128
1.02
0.00
4.1
3.9
—
—
—
0
0
(44816559) Phosphatidylethanol [Mass/volume] in Blood
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(40768795) Lymph node Pathology biopsy report
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3020629) Protein S Free Ag actual/normal in Platelet poor plasma by Immunoassay
0
6
0.00
0.00
0.0
1.3
—
90.3
—
0
6
(3038177) Helicobacter pylori Ab [Presence] in Serum
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(4306422)
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3051611) Lipemic interference index of Serum or Plasma
0
9
0.00
0.00
0.0
3.2
—
—
—
0
0
(3013327) Hepatitis A virus IgM Ab [Presence] in Serum
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(3002523) Influenza virus A Ag [Presence] in Specimen
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3009340) Metanephrine [Moles/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
(3022806) Fractional oxyhemoglobin in Capillary blood
0
5
0.00
0.00
0.0
1.6
—
85.4
—
0
5
(3035285) Chloride [Moles/volume] in Venous blood
0
6
0.00
0.00
0.0
3.8
—
106.7
—
0
6
(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3051651) Icteric interference index of Serum or Plasma
0
8
0.00
0.00
0.0
3.3
—
—
—
0
0
(3041354) Potassium [Moles/volume] in Venous blood
0
6
0.00
0.00
0.0
3.8
—
4.0
—
0
6
(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination
0
9
0.00
0.00
0.0
1.8
—
—
—
0
0
(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(36660697) Celiac disease serology panel - Serum
5
52
0.96
0.00
1.0
1.2
—
—
—
0
0
(3019420) Tryptase [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.4
—
8.4
—
0
5
(3023150) Myeloperoxidase Ab [Units/volume] in Serum
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(3028271) Lactate [Moles/volume] in Capillary blood
0
6
0.00
0.00
0.0
1.8
—
1.5
—
0
6
(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
53
530
1.00
0.00
12.5
12.0
—
—
—
0
0
(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.6
—
1.2
—
0
7
(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3014959) Toxoplasma gondii IgG Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
2.6
—
—
—
0
0
(3021788) Differential panel - Synovial fluid
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3028707) Methadone [Presence] in Urine by Screen method
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3053028) Streptococcus sp identified in Specimen by Organism specific culture
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3044927) Protein electrophoresis panel - Urine
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
1.8
—
—
—
0
0
(3049506) Microalbumin [Mass/time] in Urine collected for unspecified duration
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
(21493195) Respiratory pathogens DNA and RNA tested for in Respiratory system specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3042975) Streptococcus sp identified in Isolate by Organism specific culture
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3023420) DNA double strand Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
(3024980) IgG subclass 4 [Mass/volume] in Serum
0
7
0.00
0.00
0.0
1.3
—
0.6
—
0
7
(4268621)
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
(3032035) Polymorphonuclear cells/100 leukocytes in Blood
0
5
0.00
0.00
0.0
7.8
—
50.8
—
0
5
(3022217) INR in Platelet poor plasma by Coagulation assay
6
60
1.00
0.00
27.2
24.0
—
1.5
—
0
7
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
7
74
0.94
0.00
1.6
1.5
—
—
—
0
0
(40768800) Prostate Pathology biopsy report
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma
9
96
0.93
0.00
1.2
3.4
mmol/l
2.4
2.4
—
9
80
(3014051) Protein [Presence] in Urine by Test strip
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
(3030429) Borrelia sp DNA [Identifier] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3023709) Somatotropin [Mass/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
5.1
—
1.7
—
0
8
(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3017817) Protein [Mass] in Urine collected for unspecified duration
0
8
0.00
0.00
0.0
6.0
—
—
—
0
0
(3012494) Peanut IgE Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.2
—
2.1
—
0
6
(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3003740) Influenza virus B Ag [Presence] in Specimen
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3029075) Extractable nuclear Ab panel - Serum
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3013290) Carbon dioxide [Partial pressure] in Blood
0
8
0.00
0.00
0.0
2.0
—
5.3
—
0
8
(3044941) Cell count panel - Synovial fluid
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3009595) Pneumocystis jiroveci DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
(1616796) Gas panel - Central venous blood
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
7
77
0.90
0.00
1.1
2.2
—
—
—
0
0
(3041145) Herpes simplex virus IgM Ab [Presence] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
(3030905) Polymorphonuclear cells [#/volume] in Blood
0
5
0.00
0.00
0.0
7.4
—
2.8
—
0
5
(3027315) Oxygen [Partial pressure] in Blood
0
8
0.00
0.00
0.0
2.0
—
6.9
—
0
8
(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3012447) Hantavirus puumala IgG Ab [Titer] in Serum
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
1.8
—
—
—
0
0
(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
1.8
—
—
—
0
0
(3021952) Alkaline phosphatase isoenzymes [Enzymatic activity/volume] in Serum or Plasma by Heat stability
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3025130) Human papilloma virus identified in Specimen
0
7
0.00
0.00
0.0
2.9
—
—
—
0
0
(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3047007) Chlamydophila sp Ab [Presence] in Serum
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
(4146454)
0
5
0.00
0.00
0.0
3.8
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
6
68
0.87
0.00
1.8
1.3
—
—
—
0
0
(3033705) Calcium.ionized [Moles/volume] in Venous blood
0
6
0.00
0.00
0.0
3.8
—
—
—
0
0
(40768806) Pleura Pathology biopsy report
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3003458) Phosphate [Moles/volume] in Serum or Plasma
7
73
0.95
0.00
3.6
6.2
mmol/l
1.2
1.1
—
7
63

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: -

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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