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

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	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

G12.2

ICD-10 Finland

Motor neuron disease

+∞

16.4

G12.8

ICD-10 Finland

Other spinal muscular atrophies and related syndromes

+∞

13.0

G12.9

ICD-10 Finland

Spinal muscular atrophy, unspecified

+∞

11.9

Z31.5

ICD-10 Finland

Genetic counselling

19.7

11.4

G12.0

ICD-10 Finland

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

+∞

7.4

Z46.8

ICD-10 Finland

Fitting and adjustment of other specified devices

35.0

7.4

G62.9

ICD-10 Finland

Polyneuropathy, unspecified

19.8

7.0

J96.1

ICD-10 Finland

Chronic respiratory failure

26.2

6.9

M41.4

ICD-10 Finland

Neuromuscular scoliosis

+∞

6.4

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3022313) Gas panel - Capillary blood

5.45

5.52

5.1

7.2

—

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

4.54

4.17

5.6

5.9

25.1

mmol/l

0.02

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

2.90

3.65

3.6

2.3

0.6

1.1

e6/l

0.41

(3016018) Differential panel - Cerebral spinal fluid

10.85

3.57

8.0

1.0

—

(3044290) Cell count panel - Cerebral spinal fluid

5.90

2.95

8.1

1.1

—

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

2.68

2.94

3.8

2.3

3.3

0.6

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

5.10

2.68

7.9

1.3

325.7

385.0

mg/l

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.61

2.27

3.1

1.7

—

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

0.00

2.19

0.0

1.6

—

1.3

—

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

4.02

1.98

11.8

8.6

0.8

1.1

mg/l

—

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

3.20

1.62

4.8

6.8

—

(3015736) pH of Urine

188

1.87

1.60

3.5

3.7

—

(3037121) Protein [Mass/volume] in Urine

2.90

1.47

11.8

3.3

0.2

g/l

—

(4034850)

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

1.21

4.4

6.6

105.9

104.6

mmol/l

0.32

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

0.00

1.20

0.0

1.2

—

212.2

—

(3026008) Bacteria identified in Urine by Culture

123

1.77

1.17

3.7

2.9

—

(3041096) Erythrocytes [Presence] in Urine by Automated

112

1.71

0.98

2.2

3.2

—

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

2.00

0.97

1.1

2.0

0.9

1.2

g/l

—

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

1.98

0.91

1.5

2.4

13.8

9.7

g/l

—

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

1.80

0.84

1.7

2.7

0.2

g/l

—

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

161

1.56

0.84

4.0

3.1

32.4

28.3

u/l

0.40

148

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

117

1.62

0.83

1.4

2.5

—

(3020891) Body temperature

0.00

0.81

0.0

4.5

—

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

183

1.50

0.75

4.7

3.2

—

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

1.84

0.74

17.7

9.0

24.1

25.4

mmol/l

—

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

175

1.49

0.72

1.9

1.7

94.0

97.2

pmol/l

0.10

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

2.00

0.72

1.2

1.5

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.92

0.70

11.0

3.7

—

(3044640) Blood type and Crossmatch panel - Blood

160

1.47

0.65

1.6

2.5

—

(36304419) Bacteria [Presence] in Urine

151

1.47

0.64

5.0

2.9

—

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

124

1.51

0.64

4.4

3.6

—

(3012544) pH of Venous blood

1.68

0.64

8.6

5.6

—

(3002032) Base excess in Venous blood by calculation

1.61

0.62

8.6

5.5

2.0

1.4

mmol/l

—

(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

—

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

0.00

0.61

0.0

1.5

—

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

0.00

0.61

0.0

1.5

—

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

0.00

0.61

0.0

3.4

—

4.0

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

0.00

0.60

0.0

1.2

—

(3000494) Fungus identified in Specimen by Culture

1.52

0.56

1.3

1.6

—

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

231

1.38

0.55

2.7

4.0

—

(40761535) Cells panel - Urine sediment

1.59

0.54

1.7

3.8

—

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

175

1.39

0.53

3.0

3.8

—

(3037467) Urinalysis macro (dipstick) panel - Urine

341

1.37

0.53

5.0

4.0

—

(3022145) Colonoscopy Study observation

1.51

0.49

1.4

—

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

131

1.41

0.49

1.4

1.3

—

(3002385) Erythrocyte distribution width [Ratio]

424

0.74

0.48

21.6

16.9

13.8

13.6

0.47

416

(3000991) Gas panel - Venous blood

1.48

0.48

15.7

8.4

—

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

344

0.76

0.45

3.3

3.4

—

(3023368) Bacteria identified in Blood by Culture

115

1.40

0.44

3.3

5.2

—

(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

0.42

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

—

(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.41

0.0

3.0

—

3.7

—

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

0.00

0.40

0.0

1.0

—

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

126

1.36

0.40

1.2

1.5

0.6

0.7

u/ml

—

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

183

0.76

0.33

6.6

4.4

1.4

1.7

ug/l

0.54

156

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

1.40

0.32

1.9

5.3

0.8

mmol/l

—

(3000492) Spirometry study

1.33

0.32

1.3

1.6

—

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

0.70

0.26

1.8

1.6

—

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

0.72

0.24

1.1

1.8

—

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

197

0.81

0.24

2.5

3.5

44.1

55.1

ng/l

—

136

(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

1.27

0.23

1.2

1.4

—

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

0.00

0.21

0.0

1.0

—

(44806118)

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

2.1

—

94.6

—

(44790049)

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

3.3

—

76.2

—

(44790047)

0.00

0.21

0.0

1.5

—

(44790048)

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

(40759849) Smith 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

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.3

—

(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

—

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

0.00

0.21

0.0

1.3

—

124.4

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

3.4

—

0.0

—

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

0.00

0.21

0.0

1.4

—

4068.2

—

(3019225) pH of Specimen

1.28

0.21

2.8

4.4

—

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

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

1.4

—

(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

—

(3016879) Cocaine [Presence] in Urine

0.00

0.20

0.0

1.2

—

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

0.00

0.20

0.0

1.1

—

(40768804) Tissue Pathology biopsy report

193

0.84

0.19

2.5

2.1

—

(3002256) Pathology report gross observation

1.21

0.19

1.3

—

(40768797) Stomach Pathology biopsy report

0.74

0.18

1.4

1.2

—

(3009542) Hematocrit [Volume Fraction] of Blood

469

0.86

0.14

18.1

15.0

40.5

40.8

0.08

360

(40758558) Short blood count panel - Blood

142

1.17

0.14

3.3

7.9

—

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

147

0.85

0.13

1.8

3.0

57.2

56.0

u/l

0.04

137

(40760892) CBC W Ordered Manual Differential panel - Blood

1.19

0.12

9.5

6.3

—

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

1.15

0.10

1.6

1.8

—

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

494

0.89

0.09

4.4

4.8

3.1

2.7

mmol/l

2.24

450

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

1.11

0.08

1.4

—

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

1.07

0.08

4.7

7.9

—

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

528

1.15

0.08

14.7

16.0

49.2

76.3

umol/l

8.55

528

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

467

1.11

0.08

3.5

3.8

1.8

1.3

mmol/l

1.72

423

(3022096) Basophils/100 leukocytes in Blood

228

1.08

0.06

6.7

6.1

0.6

0.7

0.39

208

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

480

1.09

0.05

3.9

4.3

5.1

4.6

mmol/l

2.14

441

(3044889) 12 lead EKG panel

320

0.94

0.04

2.6

3.7

—

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

499

0.92

0.04

16.1

14.6

25.6

21.6

mg/l

0.29

383

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

449

0.94

0.03

11.9

12.9

101.5

82.1

ml/min/173m2

2.53

361

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

478

0.94

0.02

4.1

4.3

1.4

1.5

mmol/l

0.72

435

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

103

1.08

0.02

1.3

1.6

—

(3018418) pH of Serum or Plasma

133

1.07

0.02

6.2

4.7

—

7.4

—

(1761868) Lipid panel - Serum or Plasma

163

1.06

0.01

3.5

2.6

—

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

467

0.95

0.01

3.7

4.5

5.9

mmol/l

0.06

429

(42870588) Differential panel, method unspecified - Blood

173

1.06

0.01

6.9

6.1

—

(3019150) Specific gravity of Urine by Refractometry

106

0.93

0.01

3.5

4.4

—

1.0

—

(3006504) Eosinophils/100 leukocytes in Blood

234

1.04

0.00

6.6

6.2

2.8

3.1

0.26

213

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

461

0.99

0.00

4.6

5.3

38.8

39.0

mmol/mol

0.06

432

(3019069) Monocytes/100 leukocytes in Blood

235

1.03

0.00

6.8

6.6

8.7

8.5

0.21

216

(3018010) Neutrophils/100 leukocytes in Blood

238

1.01

0.00

6.7

6.2

57.9

56.6

0.20

220

(3002030) Lymphocytes/100 leukocytes in Blood

244

0.97

0.00

6.9

6.3

25.3

28.4

0.88

224

(3013512) EKG study

128

1.02

0.00

4.1

3.9

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.1

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.1

—

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

0.00

0.0

1.3

—

90.3

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.0

1.1

—

(4306422)

0.00

0.0

1.3

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

0.0

3.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.4

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

1.6

—

85.4

—

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

0.00

0.0

3.8

—

106.7

—

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

0.00

0.0

1.2

—

(3051651) Icteric interference index of Serum or Plasma

0.00

0.0

3.3

—

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

0.00

0.0

3.8

—

4.0

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.3

—

(36660697) Celiac disease serology panel - Serum

0.96

0.00

1.0

1.2

—

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

0.00

0.0

1.4

—

8.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.8

—

1.5

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.3

—

(40761511) CBC panel - Blood by Automated count

530

1.00

0.00

12.5

12.0

—

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

0.00

0.0

1.6

—

1.2

—

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

0.00

0.0

1.7

—

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

0.00

0.0

2.6

—

(3021788) Differential panel - Synovial fluid

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3044927) Protein electrophoresis panel - Urine

0.00

0.0

1.2

—

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

0.00

0.0

1.8

—

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

0.00

0.0

2.2

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.3

—

0.6

—

(4268621)

0.00

0.0

1.8

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

0.00

0.0

7.8

—

50.8

—

(3022217) INR in Platelet poor plasma by Coagulation assay

1.00

0.00

27.2

24.0

—

1.5

—

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

0.94

0.00

1.6

1.5

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.5

—

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

0.00

0.0

1.9

—

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

0.93

0.00

1.2

3.4

2.4

mmol/l

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

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

0.00

0.0

5.1

—

1.7

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.7

—

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

0.00

0.0

1.8

—

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

0.00

0.0

6.0

—

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

0.00

0.0

1.2

—

2.1

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.4

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.0

—

(3013290) Carbon dioxide [Partial pressure] in Blood

0.00

0.0

2.0

—

5.3

—

(3044941) Cell count panel - Synovial fluid

0.00

0.0

1.3

—

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

0.00

0.0

1.8

—

(1616796) Gas panel - Central venous blood

0.00

0.0

1.8

—

(3042936) Bacteria identified in Isolate by Culture

0.90

0.00

1.1

2.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

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

0.00

0.0

7.4

—

2.8

—

(3027315) Oxygen [Partial pressure] in Blood

0.00

0.0

2.0

—

6.9

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.0

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.0

2.9

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.2

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.2

—

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

0.00

0.0

1.5

—

(4146454)

0.00

0.0

3.8

—

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

0.87

0.00

1.8

1.3

—

(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

—

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

0.95

0.00

3.6

6.2

1.2

1.1

mmol/l

—

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

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 (R11)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints