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

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Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	519972
1. Apply sex-specific rule None	519972
2. Check conditions None	519972
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.	65
4. Check minimum number of events None	65
5. Include endpoints None	65
6. Filter based on genotype QC (FinnGen only)	63

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

NAME	G6_OTHINMUSC
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	G121
HD_ICD_9	3351A
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	G121
COD_ICD_9	3351A
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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 Other inherited 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	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	63	28	35
Unadjusted period prevalence (%)	0.01	0.01	0.02
Median age at first event (years)	53.55	51.80	54.95

-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
65: Matched controls
650

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

G12.1

ICD-10 Finland

Other inherited spinal muscular atrophy

+∞

88.0

G12.2

ICD-10 Finland

Motor neuron disease

+∞

18.6

G12.9

ICD-10 Finland

Spinal muscular atrophy, unspecified

+∞

18.6

G12.8

ICD-10 Finland

Other spinal muscular atrophies and related syndromes

+∞

14.0

R5110

NOMESCO Finland

Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it

5.8

8.9

Z46.8

ICD-10 Finland

Fitting and adjustment of other specified devices

24.0

8.8

J96.1

ICD-10 Finland

Chronic respiratory failure

32.5

8.8

N99

ICPC

Neurological disease other

+∞

8.5

Z31.5

ICD-10 Finland

Genetic counselling

9.6

8.3

G62.9

ICD-10 Finland

Polyneuropathy, unspecified

16.0

7.7

N28

ICPC

Limited function/disability (N)

89.9

7.6

G12.0

ICD-10 Finland

Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]

+∞

7.4

N03AE01

ATC

clonazepam; systemic

11.0

6.6

M41.4

ICD-10 Finland

Neuromuscular scoliosis

+∞

6.3

N07XX02

ATC

riluzole; oral

+∞

6.3

G71.08

ICD-10 Finland

Other muscular dystrophy

+∞

6.3

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3022313) Gas panel - Capillary blood

5.41

4.32

5.1

7.2

—

(3016018) Differential panel - Cerebral spinal fluid

10.84

3.57

8.0

1.0

—

(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count

2.85

3.57

3.6

2.3

0.63

1.08

e6/l

0.39

(3004490) Bicarbonate [Moles/volume] standard in Capillary blood

4.51

3.48

5.6

5.9

25.08

25.15

mmol/l

0.02

(3013201) Beta-2-Microglobulin [Mass/volume] in Serum or Plasma

10.67

3.03

10.0

2.4

1.66

3.36

mg/l

—

(3044290) Cell count panel - Cerebral spinal fluid

5.89

2.95

8.1

1.1

—

(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count

2.64

2.86

3.8

2.3

3.27

0.58

e6/l

0.95

(3023410) Appearance of Cerebral spinal fluid

6.48

2.76

9.3

1.2

—

(3019473) Protein [Mass/volume] in Cerebral spinal fluid

5.09

2.67

7.9

1.3

325.71

385.00

mg/l

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.75

2.62

3.0

1.7

—

(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma

0.00

2.19

0.0

1.6

—

1.35

—

(3030366) Cystatin C [Mass/volume] in Serum or Plasma

3.77

1.88

11.8

8.2

0.83

1.07

mg/l

—

(40762366) Oxygen capacity [Volume Fraction] in Arterial blood

3.20

1.62

4.8

6.8

—

(3037121) Protein [Mass/volume] in Urine

2.90

1.47

11.8

3.3

0.18

0.20

g/l

—

(4034850) Laboratory test

3.10

1.38

8.8

11.9

—

(3000330) Specific gravity of Urine by Test strip

2.92

1.31

1.4

3.9

—

(3014576) Chloride [Moles/volume] in Serum or Plasma

2.08

1.20

4.4

6.6

105.91

104.64

mmol/l

0.32

(3027238) Thyroperoxidase Ab [Units/volume] in Serum or Plasma

0.00

1.20

0.0

1.2

—

212.16

—

(3026008) Bacteria identified in Urine by Culture

125

1.73

1.10

3.7

2.9

—

(3013742) Prealbumin [Mass/volume] in Serum or Plasma

2.01

1.06

1.7

2.6

0.20

0.21

g/l

—

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

119

1.71

1.02

1.3

2.5

—

(3005719) IgG [Mass/volume] in Serum or Plasma

1.88

0.88

1.5

2.4

13.77

9.87

g/l

—

(3041096) Erythrocytes [Presence] in Urine by Automated

116

1.63

0.85

2.2

3.1

—

(3022145) Colonoscopy Study observation

1.76

0.82

1.4

—

(43054903) Holo-transcobalamin II [Moles/volume] in Serum

180

1.53

0.81

1.9

1.7

92.20

97.18

pmol/l

0.18

(3013139) Helicobacter pylori Ag [Presence] in Stool

0.00

0.81

0.0

1.2

—

(3020891) Body temperature

0.00

0.81

0.0

4.5

—

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

163

1.53

0.78

4.0

3.1

32.36

31.99

u/l

0.02

150

(3044640) Blood type and Crossmatch panel - Blood

163

1.53

0.78

1.5

2.5

—

(3028026) IgM [Mass/volume] in Serum or Plasma

1.89

0.75

1.1

2.1

0.90

1.19

g/l

—

(3016293) Bicarbonate [Moles/volume] in Serum or Plasma

1.79

0.72

17.7

8.9

24.14

25.40

mmol/l

—

(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma

2.00

0.72

1.2

1.5

—

(3000494) Fungus identified in Specimen by Culture

1.72

0.70

1.3

1.6

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.85

0.67

11.0

3.6

—

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

187

1.45

0.66

4.6

3.1

—

(3012544) pH of Venous blood

1.65

0.63

8.6

5.6

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

0.00

0.61

0.0

1.5

—

(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay

0.00

0.61

0.0

1.4

—

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

0.00

0.61

0.0

1.3

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.61

0.0

1.5

—

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

0.00

0.61

0.0

1.0

—

(3043409) Potassium [Moles/volume] in Arterial blood

0.00

0.61

0.0

3.4

—

4.04

—

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

237

1.40

0.61

1.9

2.6

—

(3002032) Base excess in Venous blood by calculation

1.58

0.61

8.6

5.5

1.99

1.43

mmol/l

—

(36304419) Bacteria [Presence] in Urine

153

1.44

0.60

5.0

2.9

—

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

126

1.47

0.59

4.4

3.6

—

(3037467) Urinalysis macro (dipstick) panel - Urine

348

1.39

0.57

4.9

4.0

—

(40761535) Cells panel - Urine sediment

1.55

0.53

1.7

3.7

—

(3002385) Erythrocyte distribution width [Ratio]

445

0.74

0.50

20.5

16.6

15.22

14.71

0.20

438

(3000991) Gas panel - Venous blood

1.48

0.48

15.7

8.4

—

(3019225) pH of Specimen

1.48

0.48

2.9

4.4

—

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

345

0.76

0.46

3.3

3.4

—

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

181

1.33

0.42

3.0

3.7

—

(3012158) Parainfluenza virus 2 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.42

0.0

1.6

—

(3006262) Parainfluenza virus 3 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.42

0.0

1.6

—

(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.42

0.0

1.4

—

(3005702) Mycobacterium sp identified in Specimen by Organism specific culture

0.00

0.41

0.0

1.2

—

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

0.00

0.41

0.0

1.1

—

(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.41

0.0

3.0

—

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

135

1.35

0.40

1.4

—

(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum

126

1.36

0.40

1.2

1.5

0.56

0.71

u/ml

—

(3023368) Bacteria identified in Blood by Culture

117

1.37

0.40

3.3

5.3

—

(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma

192

0.78

0.31

6.8

4.6

1.37

1.85

ug/l

0.77

165

(3012095) Magnesium [Moles/volume] in Serum or Plasma

1.35

0.28

1.9

5.7

0.80

0.81

mmol/l

—

(40760892) CBC W Ordered Manual Differential panel - Blood

240

1.21

0.26

9.7

7.0

—

(46235355) HIV 1 and 2 tests - Meaningful Use set

0.70

0.26

1.8

1.7

—

(40768804) Tissue Pathology biopsy report

198

0.81

0.25

2.5

2.1

—

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

0.72

0.24

1.1

1.8

—

(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma

145

1.23

0.24

1.5

3.0

3048.33

1396.81

ng/l

0.30

119

(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection

1.31

0.23

2.0

—

(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection

1.31

0.23

1.0

1.7

—

(3021879) Hepatitis B virus core Ab [Presence] in Serum

1.24

0.22

1.2

1.4

—

(3050449) Albumin [Mass/time] in Urine collected for unspecified duration

0.00

0.21

0.0

2.0

—

94.58

—

(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.2

—

(40763470) Parainfluenza virus 4 RNA [Presence] in Isolate by NAA with probe detection

0.00

0.21

0.0

1.5

—

(40763324) Parainfluenza virus 1 RNA [Presence] in Isolate by NAA with probe detection

0.00

0.21

0.0

1.5

—

(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.2

—

(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.2

—

(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.2

—

(40759836) Histone Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.2

—

(3016650) Hepatitis A virus Ab [Presence] in Serum

0.00

0.21

0.0

1.0

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

3.3

—

76.18

—

(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.2

—

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

0.00

0.21

0.0

1.4

—

(3029634) Reagin Ab [Titer] in Serum by VDRL

0.00

0.21

0.0

1.8

—

(3014051) Protein [Presence] in Urine by Test strip

0.00

0.21

0.0

1.3

—

(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.4

—

(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence

0.00

0.21

0.0

1.1

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

0.21

0.0

1.3

—

(3042596) Human coronavirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.3

—

(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.3

—

(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.7

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.21

0.0

1.2

—

(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma

0.00

0.21

0.0

1.3

—

7.32

—

(3050238) Crystals [Presence] in Synovial fluid by Light microscopy

0.00

0.21

0.0

1.2

—

(3000475) Leukocytes [#/volume] in Synovial fluid

0.00

0.21

0.0

1.4

—

4068.20

—

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

0.00

0.21

0.0

1.3

—

124.40

—

(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.21

0.0

3.4

—

0.00

—

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.7

—

(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing

0.00

0.21

0.0

1.5

—

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

0.00

0.20

0.0

1.0

—

(1001926) Buprenorphine [Presence] in Urine by Screen method

0.00

0.20

0.0

1.1

—

(3016879) Cocaine [Presence] in Urine

0.00

0.20

0.0

1.2

—

(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma

204

0.84

0.20

2.6

3.4

41.45

53.53

ng/l

0.21

141

(3000492) Spirometry study

1.26

0.19

1.3

1.6

—

(3002256) Pathology report gross observation

1.17

0.18

1.3

—

(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma

1.16

0.17

4.6

7.7

—

(3022096) Basophils/100 leukocytes in Blood

232

1.13

0.12

8.0

6.1

0.64

0.71

0.32

212

(40758558) Short blood count panel - Blood

145

1.14

0.10

3.3

7.9

—

(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma

1.15

0.10

1.6

1.8

—

(3044889) 12 lead EKG panel

326

0.91

0.09

2.6

3.7

—

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

504

0.89

0.09

4.4

4.8

3.11

2.74

mmol/l

2.01

459

(3017143) Hepatitis C virus Ab [Presence] in Serum

1.09

0.08

1.4

—

(3020564) Creatinine [Moles/volume] in Serum or Plasma

538

1.14

0.08

14.9

16.0

49.73

76.56

umol/l

8.53

538

(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting

477

1.11

0.08

3.5

3.9

1.80

1.30

mmol/l

1.69

431

(3006504) Eosinophils/100 leukocytes in Blood

238

1.08

0.06

7.5

6.3

2.82

3.06

0.25

217

(3019069) Monocytes/100 leukocytes in Blood

239

1.07

0.05

8.0

6.6

8.86

8.48

0.32

220

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

150

0.92

0.05

1.8

2.9

56.29

56.32

u/l

0.00

139

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

490

1.09

0.05

3.9

4.4

5.05

4.65

mmol/l

1.97

450

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

460

0.93

0.04

11.8

13.0

101.49

82.00

ml/min/173m2

2.55

371

(3019150) Specific gravity of Urine by Refractometry

109

0.90

0.04

3.5

4.4

—

1.01

—

(3020460) C reactive protein [Mass/volume] in Serum or Plasma

509

0.92

0.04

16.0

14.6

25.05

21.33

mg/l

0.27

391

(3013512) EKG study

132

1.08

0.03

4.4

3.8

—

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

488

0.94

0.02

4.2

4.4

1.38

1.47

mmol/l

0.80

444

(3018010) Neutrophils/100 leukocytes in Blood

242

1.05

0.02

7.6

6.2

58.04

56.66

0.23

224

(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture

103

1.08

0.02

1.3

1.6

—

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

477

0.95

0.01

3.7

4.6

5.86

5.90

mmol/l

0.06

436

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

471

0.99

0.00

4.7

5.3

38.80

39.09

mmol/mol

0.08

440

(1761868) Lipid panel - Serum or Plasma

167

1.02

0.00

3.5

2.6

—

(40761511) CBC panel - Blood by Automated count

539

1.01

0.00

13.0

12.1

—

(3018418) pH of Serum or Plasma

136

1.04

0.00

6.2

4.9

—

7.40

—

(3002030) Lymphocytes/100 leukocytes in Blood

248

1.01

0.00

8.2

6.3

25.24

28.42

0.96

229

(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma

0.00

0.0

1.7

—

1.64

—

(3049506) Microalbumin [Mass/time] in Urine collected for unspecified duration

0.00

0.0

2.2

—

(46235689) Lupus anticoagulant aPTT, dRVVT and PT screening panel W Reflex

0.00

0.0

1.8

—

(3028271) Lactate [Moles/volume] in Capillary blood

0.00

0.0

1.8

—

1.48

—

(3019420) Tryptase [Mass/volume] in Serum or Plasma

0.00

0.0

1.3

—

7.82

—

(3033705) Calcium.ionized [Moles/volume] in Venous blood

0.00

0.0

3.8

—

(40768806) Pleura Pathology biopsy report

0.00

0.0

1.3

—

(3035285) Chloride [Moles/volume] in Venous blood

0.00

0.0

3.8

—

106.67

—

(3041145) Herpes simplex virus IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.0

—

(3020629) Protein S Free Ag actual/normal in Platelet poor plasma by Immunoassay

0.00

0.0

1.3

—

90.33

—

(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum

0.00

0.0

1.2

—

(1616796) Gas panel - Central venous blood

0.00

0.0

2.0

—

(3030429) Borrelia sp DNA [Identifier] in Specimen by NAA with probe detection

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

2.06

—

(3028167) CD3+CD4+ (T4 helper) cells [#/volume] in Blood

0.00

0.0

3.0

—

625.17

—

(3044927) Protein electrophoresis panel - Urine

0.00

0.0

1.2

—

(3041354) Potassium [Moles/volume] in Venous blood

0.00

0.0

3.8

—

3.98

—

(3053028) Streptococcus sp identified in Specimen by Organism specific culture

0.00

0.0

1.0

—

(3003458) Phosphate [Moles/volume] in Serum or Plasma

0.91

0.00

3.6

6.2

1.19

1.10

mmol/l

—

(3009595) Pneumocystis jiroveci DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.8

—

(4146454) Self-monitoring of blood glucose

0.00

0.0

3.5

—

(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]

0.00

0.0

1.7

—

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

0.00

-0.00

0.0

1.2

—

(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.3

—

(3025130) Human papilloma virus identified in Specimen

0.00

-0.00

0.0

2.9

—

(3023709) Somatotropin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

5.1

—

1.74

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.0

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

-0.00

0.0

1.2

—

(36660697) Celiac disease serology panel - Serum

0.96

-0.00

1.0

1.2

—

(4035726) Immunohistochemistry procedure

0.94

-0.00

1.4

1.3

—

(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.6

—

1.16

—

(3024139) IgG subclass 3 [Mass/volume] in Serum

0.00

-0.00

0.0

1.0

—

0.46

—

(3024980) IgG subclass 4 [Mass/volume] in Serum

0.00

-0.00

0.0

1.3

—

0.62

—

(3042936) Bacteria identified in Isolate by Culture

0.89

-0.00

1.1

2.3

—

(4062490) Immunoglobulin typing, IgG

0.00

-0.00

0.0

1.0

—

(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.3

—

(40768795) Lymph node Pathology biopsy report

0.00

-0.00

0.0

1.1

—

(3030905) Polymorphonuclear cells [#/volume] in Blood

0.00

-0.00

0.0

7.4

—

2.77

—

(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.8

—

(3021952) Alkaline phosphatase isoenzymes [Enzymatic activity/volume] in Serum or Plasma by Heat stability

0.00

-0.00

0.0

1.0

—

(3013327) Hepatitis A virus IgM Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.1

—

(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep

0.87

-0.00

1.8

1.3

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

-0.00

0.0

1.1

—

(21493195) Respiratory pathogens DNA and RNA tested for in Respiratory system specimen by NAA with probe detection

0.00

-0.00

0.0

1.6

—

(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.8

—

(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination

0.00

-0.00

0.0

1.8

—

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

0.00

-0.00

0.0

1.2

—

(3019284) Hepatitis B virus surface Ag [Presence] in Serum

0.93

-0.00

1.6

1.5

—

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

0.00

-0.00

0.0

2.6

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

-0.00

0.0

1.6

—

85.36

—

(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.8

—

(3049539) Genetic diseases [Identifier] in Blood or Tissue by FISH Nominal

0.00

-0.00

0.0

1.2

—

(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay

0.00

-0.00

0.0

1.0

—

(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method

0.00

-0.00

0.0

1.3

—

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

0.00

-0.00

0.0

1.3

—

(3042975) Streptococcus sp identified in Isolate by Organism specific culture

0.00

-0.00

0.0

1.0

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

-0.00

0.0

3.0

—

(3011897) Casein IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

0.69

—

(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma

0.92

-0.00

1.2

3.4

2.38

2.45

mmol/l

—

(3027135) IgG subclass 1 [Mass/volume] in Serum

0.00

-0.00

0.0

1.0

—

7.29

—

(40768797) Stomach Pathology biopsy report

0.89

-0.00

1.5

1.2

—

(3013290) Carbon dioxide [Partial pressure] in Blood

0.00

-0.00

0.0

2.1

—

5.28

—

(3009340) Metanephrine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.2

—

(3023420) DNA double strand Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.6

—

(40768800) Prostate Pathology biopsy report

0.00

-0.00

0.0

1.6

—

(3021788) Differential panel - Synovial fluid

0.00

-0.00

0.0

1.3

—

(3023150) Myeloperoxidase Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.9

—

(3028707) Methadone [Presence] in Urine by Screen method

0.00

-0.00

0.0

1.0

—

(3028192) IgG subclass 2 [Mass/volume] in Serum

0.00

-0.00

0.0

1.0

—

2.28

—

(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.4

—

(3027315) Oxygen [Partial pressure] in Blood

0.00

-0.00

0.0

2.1

—

6.92

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

-0.00

0.0

1.0

—

(3051651) Icteric interference index of Serum or Plasma

0.00

-0.00

0.0

3.3

—

(3044941) Cell count panel - Synovial fluid

0.00

-0.00

0.0

1.3

—

(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.8

—

(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.5

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

0.00

-0.00

0.0

7.8

—

50.80

—

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

5.5

—

(3012447) Hantavirus puumala IgG Ab [Titer] in Serum

0.00

-0.00

0.0

1.1

—

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: 12

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

Other inherited 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

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints