This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Infantile muscular atrophy
G6_INFAMUSC
No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
23 |
4. Check minimum number of eventsNone |
23 |
5. Include endpointsNone |
23 |
6. Filter based on genotype QC (FinnGen only) |
23 |
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
- Atrophia musculorum spinalis infantilis, typus I (Werdnig-Hoffmann)
Similar endpoints
↥List of similar endpoints to
Infantile 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 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 | 336 | 175 | 158 |
| Only index persons | 168 | 84 | 84 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.00 | 0.01 | 0.00 |
| Only index persons | 0.00 | 0.00 | 0.00 |
| Median age at first event (years) | |||
| Whole population | 34.82 | 32.08 | 37.34 |
| Only index persons | 48.25 | 42.81 | 53.69 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 23 | 12 | 11 |
| Unadjusted period prevalence (%) | 0.00 | 0.00 | 0.00 |
| Median age at first event (years) | 43.04 | 28.92 | 58.44 |
-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
No data
-FinnGen-
Cumulative Incidence Function
Not a core endpoint, no data to show.
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.
No data available
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
(3007853) Bacteria identified in Skin by Aerobe culture
6
18
4.12
1.89
2.3
3.2
—
—
—
0
0
(3000991) Gas panel - Venous blood
6
18
4.12
1.89
15.5
7.3
—
—
—
0
0
(3028626) Oxygen [Partial pressure] in Capillary blood
5
13
4.59
1.81
7.6
31.8
kpa
10.4
8.9
—
5
13
(3044889) 12 lead EKG panel
17
110
3.08
1.57
3.3
3.2
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
9
43
2.78
1.53
4.6
4.0
—
—
—
0
0
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
13
77
2.58
1.31
15.2
11.7
mmol/l
1.2
1.2
0.24
13
71
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
12
71
2.44
1.18
14.8
11.0
mmol/l
1.2
1.2
0.20
12
65
(3012544) pH of Venous blood
5
21
2.75
1.15
17.2
5.0
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
11
65
2.33
1.06
2.5
3.2
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
13
83
2.30
1.05
6.9
5.2
—
0.0
—
0
14
(3009261) Glucose [Presence] in Urine by Test strip
13
85
2.22
0.97
4.5
3.7
—
0.0
—
0
14
(3035350) Ketones [Presence] in Urine by Test strip
13
85
2.22
0.97
3.8
3.7
—
0.0
—
0
14
(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma
11
68
2.18
0.93
3.5
2.1
nmol/l
76.0
67.8
0.47
11
60
(40768797) Stomach Pathology biopsy report
0
27
0.00
0.83
0.0
1.1
—
—
—
0
0
(3048689) Calprotectin [Mass/mass] in Stool
5
26
2.17
0.76
6.0
2.3
ug/g
273.0
131.8
—
5
21
(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma
17
132
2.10
0.74
7.9
7.6
u/l
72.9
98.6
1.61
17
125
(3013826) Glucose [Moles/volume] in Serum or Plasma
14
105
1.85
0.72
7.9
4.7
mmol/l
6.5
6.7
0.14
14
97
(40758558) Short blood count panel - Blood
9
61
1.78
0.65
2.3
6.6
—
—
—
0
0
(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma
0
23
0.00
0.62
0.0
4.4
—
34.7
—
0
15
(3015736) pH of Urine
10
69
1.79
0.56
3.1
3.6
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
11
80
1.72
0.51
2.7
4.5
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
9
66
1.59
0.47
4.7
3.5
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
0
15
0.00
0.43
0.0
2.9
—
—
—
0
0
(4035726)
0
16
0.00
0.43
0.0
1.3
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
12
145
0.64
0.37
3.8
3.8
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
6
45
1.45
0.37
2.8
5.4
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
7
55
1.39
0.34
2.9
2.9
—
—
—
0
0
(3015377) Calcium [Moles/volume] in Serum or Plasma
8
60
1.51
0.34
1.8
1.9
mmol/l
2.4
2.4
—
8
53
(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma
18
161
1.54
0.32
3.1
4.2
mmol/l
1.6
1.5
0.18
18
146
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
14
156
0.74
0.31
7.8
11.1
ml/min/173m2
98.4
87.3
—
9
122
(3037467) Urinalysis macro (dipstick) panel - Urine
15
129
1.47
0.29
4.3
4.7
—
—
—
0
0
(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma
14
120
1.42
0.29
5.3
3.0
u/l
56.9
49.9
0.13
14
114
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
5
38
1.40
0.25
2.4
3.9
ng/l
88.4
551.2
—
5
29
(3026008) Bacteria identified in Urine by Culture
6
47
1.37
0.23
3.0
2.9
—
—
—
0
0
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
0
10
0.00
0.22
0.0
3.1
—
—
—
0
0
(3008898) HLA-B27 [Presence]
0
10
0.00
0.22
0.0
1.0
—
—
—
0
0
(3001019) Free T4 and TSH panel - Serum or Plasma
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
0
10
0.00
0.22
0.0
2.8
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
0
12
0.00
0.22
0.0
2.9
—
—
—
0
0
(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection
0
12
0.00
0.22
0.0
2.2
—
—
—
0
0
(3005322) IgE [Units/volume] in Serum or Plasma
0
14
0.00
0.21
0.0
1.5
—
152.7
—
0
14
(3019225) pH of Specimen
0
14
0.00
0.21
0.0
6.6
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
7
60
1.24
0.20
4.6
8.4
—
—
—
0
0
(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma
18
166
1.39
0.20
4.1
4.5
mmol/l
2.9
2.7
0.38
18
153
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
14
155
0.75
0.19
4.3
5.1
mmol/mol
37.6
39.2
0.22
14
145
(3001122) Ferritin [Mass/volume] in Serum or Plasma
9
78
1.25
0.19
5.4
2.5
ug/l
95.2
96.7
—
9
73
(3029937) Albumin [Presence] in Urine by Test strip
5
44
1.17
0.11
4.0
4.0
—
0.0
—
0
12
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
17
162
1.19
0.09
3.2
4.3
mmol/l
5.8
5.8
0.02
17
150
(3006504) Eosinophils/100 leukocytes in Blood
9
82
1.16
0.09
5.8
7.4
%
3.3
2.9
—
9
74
(3022096) Basophils/100 leukocytes in Blood
9
82
1.16
0.09
5.8
7.3
%
0.7
0.6
—
9
75
(3019069) Monocytes/100 leukocytes in Blood
9
83
1.14
0.09
5.9
7.6
%
8.0
8.2
—
9
76
(3002030) Lymphocytes/100 leukocytes in Blood
9
85
1.10
0.08
6.3
7.5
%
32.0
29.2
—
9
79
(3013707) Erythrocyte sedimentation rate by Westergren method
14
133
1.13
0.08
3.6
3.7
mm/h
13.1
10.6
0.28
14
125
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
13
127
1.05
0.00
2.8
3.5
pmol/l
15.3
14.3
1.00
13
119
(3018010) Neutrophils/100 leukocytes in Blood
9
86
1.08
0.00
6.3
7.1
%
56.2
55.5
—
9
80
(1002224) Polysomnography panel
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3006598) pH of Arterial cord blood
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3003932) Carbon dioxide [Partial pressure] in Arterial cord blood
0
5
0.00
0.00
0.0
1.0
—
7.1
—
0
5
(3005033) Fetal Nuchal fold Thickness US
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3012494) Peanut IgE Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.2
—
2.2
—
0
5
(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
(3048929) Epstein Barr virus Ab [Presence] in Serum
0
8
0.00
0.00
0.0
2.5
—
—
—
0
0
(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
2.0
—
260.0
—
0
7
(3027831) CD3-CD16+CD56+ (Natural killer) cells/100 cells in Blood
0
5
0.00
0.00
0.0
2.0
—
12.8
—
0
5
(3044640) Blood type and Crossmatch panel - Blood
5
49
1.03
0.00
2.0
3.7
—
—
—
0
0
(3009201) Thyrotropin [Units/volume] in Serum or Plasma
16
161
0.98
0.00
3.5
4.1
mu/l
1.8
2.0
0.37
16
144
(3017766) Complement C4 [Mass/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.5
—
0.2
—
0
6
(3015171) Extractable nuclear Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3011288) Drugs identified in Urine by Screen method
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3009508) Creatinine [Moles/volume] in Urine
5
55
0.88
0.00
10.2
2.8
mmol/l
4.4
7.9
—
5
46
(3020148) Glutamate decarboxylase 65 Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
3.8
—
19.0
—
0
5
(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3007566) Smooth muscle Ab [Titer] in Serum
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
5
50
1.00
0.00
1.0
1.7
—
—
—
0
0
(36305247) Microscopic observation [Identifier] in Isolate by Gram stain
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3002523) Influenza virus A Ag [Presence] in Specimen
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(21494815) CD4 cells/100 lymphocytes in Specimen
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3043109) Cytology report of Tissue fine needle aspirate Cyto stain
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3000620) Complement C3 [Mass/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.4
—
1.3
—
0
7
(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3006184) Hemoglobin [Mass/volume] in Capillary blood
0
5
0.00
0.00
0.0
2.6
—
125.6
—
0
5
(1761868) Lipid panel - Serum or Plasma
5
51
0.98
0.00
1.2
2.9
—
—
—
0
0
(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
1.6
—
—
—
0
0
(3034770) Mitochondria Ab [Titer] in Serum
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells
0
5
0.00
0.00
0.0
3.0
—
—
—
0
0
(3043238) Trisomy 21 risk [Likelihood] in Fetus
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
(3003740) Influenza virus B Ag [Presence] in Specimen
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3013139) Helicobacter pylori Ag [Presence] in Stool
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3003284) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum by Immunofluorescence
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
2.0
—
—
—
0
0
(40768793) Breast Pathology biopsy report
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3006245) CD3-CD19+ cells/100 cells in Blood
0
5
0.00
0.00
0.0
3.4
—
21.4
—
0
5
(3014959) Toxoplasma gondii IgG Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
2.4
—
—
—
0
0
(3007449) CD3+CD8+ (T8 suppressor) cells/100 cells in Blood
0
5
0.00
0.00
0.0
1.8
—
17.0
—
0
5
(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3047352) Trisomy 18 risk [Likelihood] in Fetus
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3021387) Prolactin [Units/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.0
—
225.7
—
0
6
(3016921) Smith extractable nuclear Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
(3017817) Protein [Mass] in Urine collected for unspecified duration
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
(3021706) Oxygen [Partial pressure] in Arterial cord blood
0
5
0.00
0.00
0.0
1.0
—
3.6
—
0
5
(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint G6_INFAMUSC and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have G6_INFAMUSC.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | No data |
| 5 | No data | No data |
| 10 | No data | No data |
| 15 | No data | No data |
| 20 | No data | No data |
Relationships between endpoints
↥Index endpoint: G6_INFAMUSC – Infantile 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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