Infantile muscular atrophy

G6_INFAMUSC

No definition available.

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 — G12.0 Hospital discharge: ICD-9 — 3350A Hospital discharge: ICD-8 — 33010 Cause of death: ICD-10 — G12.0 Cause of death: ICD-9 — 3350A Cause of death: ICD-8 — 33010 2 out of 7 registries used, show all original rules.	23
4. Check minimum number of events None	23
5. Include endpoints None	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)

NAME	G6_INFAMUSC
CONTROL_EXCLUDE	G6_NEUATR
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	G120
HD_ICD_9	3350A
HD_ICD_8	33010
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	G120
COD_ICD_9	3350A
COD_ICD_8	33010
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

↥

List of similar endpoints to Infantile muscular atrophy based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

Upset plot

Full data table

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

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3007853) Bacteria identified in Skin by Aerobe culture

4.12

1.89

2.3

3.2

—

(3000991) Gas panel - Venous blood

4.12

1.89

15.5

7.3

—

(3028626) Oxygen [Partial pressure] in Capillary blood

4.59

1.81

7.6

31.8

10.4

8.9

kpa

—

(3044889) 12 lead EKG panel

110

3.08

1.57

3.3

3.2

—

(3011397) Hemoglobin [Presence] in Urine by Test strip

2.78

1.53

4.6

4.0

—

(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma

2.58

1.31

15.2

11.7

1.2

mmol/l

0.24

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

2.44

1.18

14.8

11.0

1.2

mmol/l

0.20

(3012544) pH of Venous blood

2.75

1.15

17.2

5.0

—

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

2.33

1.06

2.5

3.2

—

(3021601) Nitrite [Presence] in Urine by Test strip

2.30

1.05

6.9

5.2

—

0.0

—

(3009261) Glucose [Presence] in Urine by Test strip

2.22

0.97

4.5

3.7

—

0.0

—

(3035350) Ketones [Presence] in Urine by Test strip

2.22

0.97

3.8

3.7

—

0.0

—

(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma

2.18

0.93

3.5

2.1

76.0

67.8

nmol/l

0.47

(40768797) Stomach Pathology biopsy report

0.00

0.83

0.0

1.1

—

(3048689) Calprotectin [Mass/mass] in Stool

2.17

0.76

6.0

2.3

273.0

131.8

ug/g

—

(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma

132

2.10

0.74

7.9

7.6

72.9

98.6

u/l

1.61

125

(3013826) Glucose [Moles/volume] in Serum or Plasma

105

1.85

0.72

7.9

4.7

6.5

6.7

mmol/l

0.14

(40758558) Short blood count panel - Blood

1.78

0.65

2.3

6.6

—

(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma

0.00

0.62

0.0

4.4

—

34.7

—

(3015736) pH of Urine

1.79

0.56

3.1

3.6

—

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

1.72

0.51

2.7

4.5

—

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

1.59

0.47

4.7

3.5

—

(40761536) Microorganisms panel - Urine sediment

0.00

0.43

0.0

2.9

—

(4035726)

0.00

0.43

0.0

1.3

—

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

145

0.64

0.37

3.8

—

(3023368) Bacteria identified in Blood by Culture

1.45

0.37

2.8

5.4

—

(36304419) Bacteria [Presence] in Urine

1.39

0.34

2.9

—

(3015377) Calcium [Moles/volume] in Serum or Plasma

1.51

0.34

1.8

1.9

2.4

mmol/l

—

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

161

1.54

0.32

3.1

4.2

1.6

1.5

mmol/l

0.18

146

(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)

156

0.74

0.31

7.8

11.1

98.4

87.3

ml/min/173m2

—

122

(3037467) Urinalysis macro (dipstick) panel - Urine

129

1.47

0.29

4.3

4.7

—

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

120

1.42

0.29

5.3

3.0

56.9

49.9

u/l

0.13

114

(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma

1.40

0.25

2.4

3.9

88.4

551.2

ng/l

—

(3026008) Bacteria identified in Urine by Culture

1.37

0.23

3.0

2.9

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

0.00

0.22

0.0

3.1

—

(3008898) HLA-B27 [Presence]

0.00

0.22

0.0

1.0

—

(3001019) Free T4 and TSH panel - Serum or Plasma

0.00

0.22

0.0

1.1

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.22

0.0

2.8

—

(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture

0.00

0.22

0.0

2.9

—

(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

0.00

0.22

0.0

2.2

—

(3005322) IgE [Units/volume] in Serum or Plasma

0.00

0.21

0.0

1.5

—

152.7

—

(3019225) pH of Specimen

0.00

0.21

0.0

6.6

—

(42870588) Differential panel, method unspecified - Blood

1.24

0.20

4.6

8.4

—

(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma

166

1.39

0.20

4.1

4.5

2.9

2.7

mmol/l

0.38

153

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

155

0.75

0.19

4.3

5.1

37.6

39.2

mmol/mol

0.22

145

(3001122) Ferritin [Mass/volume] in Serum or Plasma

1.25

0.19

5.4

2.5

95.2

96.7

ug/l

—

(3029937) Albumin [Presence] in Urine by Test strip

1.17

0.11

4.0

—

0.0

—

(3018251) Fasting glucose [Moles/volume] in Serum or Plasma

162

1.19

0.09

3.2

4.3

5.8

mmol/l

0.02

150

(3006504) Eosinophils/100 leukocytes in Blood

1.16

0.09

5.8

7.4

3.3

2.9

—

(3022096) Basophils/100 leukocytes in Blood

1.16

0.09

5.8

7.3

0.7

0.6

—

(3019069) Monocytes/100 leukocytes in Blood

1.14

0.09

5.9

7.6

8.0

8.2

—

(3002030) Lymphocytes/100 leukocytes in Blood

1.10

0.08

6.3

7.5

32.0

29.2

—

(3013707) Erythrocyte sedimentation rate by Westergren method

133

1.13

0.08

3.6

3.7

13.1

10.6

mm/h

0.28

125

(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma

127

1.05

0.00

2.8

3.5

15.3

14.3

pmol/l

1.00

119

(3018010) Neutrophils/100 leukocytes in Blood

1.08

0.00

6.3

7.1

56.2

55.5

—

(1002224) Polysomnography panel

0.00

0.0

1.4

—

(3006598) pH of Arterial cord blood

0.00

0.0

1.0

—

(3003932) Carbon dioxide [Partial pressure] in Arterial cord blood

0.00

0.0

1.0

—

7.1

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.0

1.3

—

(3012494) Peanut IgE Ab [Units/volume] in Serum

0.00

0.0

1.2

—

2.2

—

(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood

0.00

0.0

1.8

—

(3048929) Epstein Barr virus Ab [Presence] in Serum

0.00

0.0

2.5

—

(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum

0.00

0.0

2.0

—

260.0

—

(3027831) CD3-CD16+CD56+ (Natural killer) cells/100 cells in Blood

0.00

0.0

2.0

—

12.8

—

(3044640) Blood type and Crossmatch panel - Blood

1.03

0.00

2.0

3.7

—

(3009201) Thyrotropin [Units/volume] in Serum or Plasma

161

0.98

0.00

3.5

4.1

1.8

2.0

mu/l

0.37

144

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

0.00

0.0

1.5

—

0.2

—

(3015171) Extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.4

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

0.00

0.0

1.3

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.0

1.2

—

(3009508) Creatinine [Moles/volume] in Urine

0.88

0.00

10.2

2.8

4.4

7.9

mmol/l

—

(3020148) Glutamate decarboxylase 65 Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma

0.00

0.0

3.8

—

19.0

—

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

0.00

0.0

1.3

—

(3007566) Smooth muscle Ab [Titer] in Serum

0.00

0.0

1.5

—

(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.6

—

(3003694) ABO and Rh group [Type] in Blood

1.00

0.00

1.0

1.7

—

(36305247) Microscopic observation [Identifier] in Isolate by Gram stain

0.00

0.0

1.8

—

(3002523) Influenza virus A Ag [Presence] in Specimen

0.00

0.0

1.2

—

(21494815) CD4 cells/100 lymphocytes in Specimen

0.00

0.0

1.8

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

0.00

0.0

1.3

—

(3043109) Cytology report of Tissue fine needle aspirate Cyto stain

0.00

0.0

1.0

—

(3000620) Complement C3 [Mass/volume] in Serum or Plasma

0.00

0.0

1.4

—

1.3

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.6

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

0.00

0.0

1.3

—

(3006184) Hemoglobin [Mass/volume] in Capillary blood

0.00

0.0

2.6

—

125.6

—

(1761868) Lipid panel - Serum or Plasma

0.98

0.00

1.2

2.9

—

(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method

0.00

0.0

1.8

—

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

0.00

0.0

1.6

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.0

1.4

—

(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells

0.00

0.0

3.0

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.0

1.4

—

(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.8

—

(3003740) Influenza virus B Ag [Presence] in Specimen

0.00

0.0

1.2

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

0.00

0.0

1.1

—

(3003284) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum by Immunofluorescence

0.00

0.0

1.9

—

(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.0

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.0

—

(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.3

—

(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum

0.00

0.0

1.2

—

(3006245) CD3-CD19+ cells/100 cells in Blood

0.00

0.0

3.4

—

21.4

—

(3014959) Toxoplasma gondii IgG Ab [Units/volume] in Serum

0.00

0.0

2.4

—

(3007449) CD3+CD8+ (T8 suppressor) cells/100 cells in Blood

0.00

0.0

1.8

—

17.0

—

(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma

0.00

0.0

1.7

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.0

1.3

—

(3021387) Prolactin [Units/volume] in Serum or Plasma

0.00

0.0

1.0

—

225.7

—

(3016921) Smith extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.4

—

(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum

0.00

0.0

1.7

—

(3017817) Protein [Mass] in Urine collected for unspecified duration

0.00

0.0

2.2

—

(3021706) Oxygen [Partial pressure] in Arterial cord blood

0.00

0.0

1.0

—

3.6

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.1

—

Mortality – FinRegistry

↥

Association

Association between endpoint G6_INFAMUSC and mortality.

Females

No data

Males

No data

Mortality 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

Loading data

Infantile muscular atrophy

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

3. Check pre-conditions, main-only, mode, registry filters

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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 (R11)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints