Congenital myopathies

G6_CONMYOP

central core myopathy: An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)

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 — G71.2 Hospital discharge: ICD-9 — 3590A Cause of death: ICD-10 — G71.2 Cause of death: ICD-9 — 3590A 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)	65

Control definitions (FinnGen only)

Control exclude: G6_MYONEU

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: G71
Name in latin: Myopathiae congenitae

NAME	G6_CONMYOP
CONTROL_EXCLUDE	G6_MYONEU
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	G712
HD_ICD_9	3590A
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	G712
COD_ICD_9	3590A
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 Congenital myopathies 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	713	322	384
Only index persons	528	245	283
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	40.42	42.53	38.30
Only index persons	39.02	40.01	38.17

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	65	35	30
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	45.01	39.27	51.72

-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
59: Matched controls
591

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

G71.28

ICD-10 Finland

Other congenital myopathy

+∞

32.3

G72.9

ICD-10 Finland

Myopathy, unspecified

+∞

24.7

G71.25

ICD-10 Finland

Congenital muscular dystrophy NOS

+∞

22.3

Z31.5

ICD-10 Finland

Genetic counselling

36.0

14.4

G71.08

ICD-10 Finland

Other muscular dystrophy

+∞

14.1

G71.9

ICD-10 Finland

Primary disorder of muscle, unspecified

+∞

14.1

J96.1

ICD-10 Finland

Chronic respiratory failure

33.1

8.8

N99

ICPC

Neurological disease other

+∞

8.5

3590A

ICD-9 Finland

Muscular dystrophies and other myopathies, Congenital hereditary muscular dystrophy

+∞

8.5

33098

ICD-8 Finland

Hereditary neuromuscular disorders, Alii definiti

+∞

8.5

L28

ICPC

Limited function/disability (L)

7.5

7.8

G71.21

ICD-10 Finland

Fibre type disproportion

+∞

7.4

G71.8

ICD-10 Finland

Other primary disorders of muscles

+∞

7.4

G71.18

ICD-10 Finland

Other myotonic disease

+∞

7.4

SPAT1229

SPAT

Assessment of need for aid

11.5

7.2

N03AE01

ATC

clonazepam; systemic

13.2

6.6

N28

ICPC

Limited function/disability (N)

30.3

6.4

G71.02

ICD-10 Finland

Muscular dystrophy facioscapulohumeral

+∞

6.4

G71.00

ICD-10 Finland

Muscular dystrophy benign [Becker]

+∞

6.4

SPAT1230

SPAT

Aid fitting and borrowing and monitoring of use

5.5

6.2

R29.8

ICD-10 Finland

Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems

7.6

6.2

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

6.42

6.03

7.4

5.5

—

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

109

2.37

2.47

2.8

3.4

884.2

941.3

ng/l

0.03

(3007853) Bacteria identified in Skin by Aerobe culture

2.76

2.37

1.2

1.4

—

(3023368) Bacteria identified in Blood by Culture

104

2.33

3.6

5.0

—

(3015235) Bicarbonate [Moles/volume] in Capillary blood

5.91

2.25

1.4

2.9

27.9

24.8

mmol/l

—

(3024561) Albumin [Mass/volume] in Serum or Plasma

181

2.09

2.14

2.5

5.2

36.5

36.6

g/l

0.04

175

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

5.31

2.11

1.8

1.6

—

(3004789) Transferrin [Mass/volume] in Serum or Plasma

2.41

1.86

2.3

2.4

2.6

2.4

g/l

0.68

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

4.41

1.86

1.0

2.2

—

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

400

0.57

1.39

2.5

3.4

—

(3022948) Iron [Moles/volume] in Serum or Plasma

2.04

1.31

2.9

2.4

12.1

14.2

umol/l

0.66

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

122

0.44

1.21

1.5

2.1

—

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

2.00

1.18

3.2

8.7

1.1

mmol/l

0.17

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

2.49

1.16

3.7

8.2

24.7

26.0

mmol/l

—

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

1.97

1.14

1.8

—

(3019225) pH of Specimen

2.08

1.13

1.8

6.0

—

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

110

1.74

1.04

1.4

1.6

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

0.00

1.00

0.0

12.9

—

0.7

—

(3037551) Cancer Ag 125 [Units/volume] in Serum or Plasma

0.00

1.00

0.0

4.0

—

30.8

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

0.00

1.00

0.0

12.5

—

1.9

—

(3026989) Triiodothyronine (T3) Free [Moles/volume] in Serum or Plasma

2.34

0.96

2.3

3.7

4.8

4.2

pmol/l

—

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

211

1.57

0.95

4.5

9.5

1.2

mmol/l

1.08

196

(3018418) pH of Serum or Plasma

139

1.63

0.94

3.8

4.2

7.4

—

(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood

2.03

0.93

2.0

4.0

1.2

mmol/l

—

(3012544) pH of Venous blood

1.93

0.90

3.4

6.3

—

(3042936) Bacteria identified in Isolate by Culture

1.83

0.89

2.1

2.7

—

(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection

2.03

0.87

1.8

1.3

—

(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection

1.76

0.82

1.4

1.6

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.79

0.0

1.8

—

(3021589) Normoblasts [#/volume] in Blood

249

1.47

0.75

6.6

9.8

0.0

e9/l

0.00

206

(3019550) Sodium [Moles/volume] in Serum or Plasma

524

1.71

0.73

14.7

14.8

139.8

139.6

mmol/l

0.27

513

(3009542) Hematocrit [Volume Fraction] of Blood

491

0.68

0.67

15.6

13.4

40.1

40.4

0.06

387

(3031040) Bacteria [#/volume] in Urine by Automated count

314

1.41

0.63

4.7

3.7

—

26.2

—

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

285

1.40

0.62

3.2

6.8

6.2

6.6

mmol/l

0.79

261

(3023103) Potassium [Moles/volume] in Serum or Plasma

526

1.68

0.62

14.9

14.7

3.9

4.0

mmol/l

1.44

515

(4034850)

0.00

0.61

0.0

6.7

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.61

0.0

1.5

—

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

0.00

0.61

0.0

1.6

—

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

247

1.40

0.60

3.7

3.5

0.0

estimate

—

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

183

1.40

0.56

4.0

2.9

—

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

251

1.36

0.53

5.3

4.6

0.0

estimate

—

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

0.57

0.49

1.2

1.5

—

(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection

1.51

0.49

1.4

1.6

—

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

0.62

0.46

1.3

2.2

—

(36304419) Bacteria [Presence] in Urine

142

1.37

0.45

3.4

2.6

—

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

1.47

0.44

1.5

1.4

—

(3025941) Bacteria identified in Stool by Culture

1.66

0.44

1.0

1.2

—

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

102

0.65

0.44

1.3

1.6

—

(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum

1.56

0.42

1.4

2.3

—

(3007566) Smooth muscle Ab [Titer] in Serum

0.00

0.42

0.0

1.5

—

(3009041) Cardiolipin IgG Ab [Units/volume] in Serum by Immunoassay

0.00

0.42

0.0

1.1

—

6.6

—

(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma

0.00

0.41

0.0

1.8

—

48.5

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.41

0.0

1.2

—

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

0.00

0.40

0.0

1.1

—

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

486

0.76

0.39

3.8

1.2

1.3

mmol/l

0.20

445

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

474

1.35

0.38

10.9

11.6

112.5

87.4

ml/min/173m2

3.80

377

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

203

1.29

0.37

4.3

3.5

—

(3000991) Gas panel - Venous blood

1.51

0.37

3.5

12.9

—

(40761535) Cells panel - Urine sediment

1.47

0.37

5.0

4.4

—

(3026008) Bacteria identified in Urine by Culture

128

1.33

0.36

3.2

2.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

147

1.31

0.36

3.4

2.7

—

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

253

1.26

0.35

3.9

3.5

0.0

estimate

—

(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection

1.37

0.35

1.2

1.6

—

(42870588) Differential panel, method unspecified - Blood

176

1.29

0.35

3.9

6.3

—

(3048689) Calprotectin [Mass/mass] in Stool

1.39

0.32

1.8

1.9

95.4

99.6

ug/g

—

(40761511) CBC panel - Blood by Automated count

555

0.76

0.29

14.9

11.5

—

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

142

1.27

0.28

3.4

4.0

0.0

estimate

—

(1761868) Lipid panel - Serum or Plasma

208

0.81

0.25

2.2

2.7

—

(3013512) EKG study

135

1.25

0.24

3.4

3.5

—

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

392

1.20

0.23

4.6

3.9

15.3

14.7

pmol/l

0.72

373

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

144

0.80

0.22

1.7

1.4

—

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

0.00

0.21

0.0

1.3

—

(3043849) Epstein Barr virus DNA [Units/volume] (viral load) in Serum or Plasma by NAA with probe detection

0.00

0.21

0.0

4.1

—

(4306422)

0.00

0.21

0.0

1.1

—

(44816844) Macroprolactin [Units/volume] in Serum or Plasma

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

1.3

—

(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum

0.00

0.21

0.0

1.2

—

(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence

0.00

0.21

0.0

1.6

—

(3044355) Beta 2 glycoprotein 1 IgG Ab [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.21

0.0

1.2

—

1.0

—

(3000494) Fungus identified in Specimen by Culture

1.25

0.20

1.7

2.0

—

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

0.00

0.20

0.0

1.1

—

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

0.00

0.20

0.0

50.7

—

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

0.00

0.20

0.0

1.1

—

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

0.00

0.20

0.0

1.0

—

(3000963) Hemoglobin [Mass/volume] in Blood

593

0.80

0.19

21.3

19.2

137.5

136.3

g/l

0.24

585

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

1.23

0.19

9.4

6.4

—

(3024731) MCV [Entitic volume]

592

0.81

0.19

21.0

19.1

91.1

90.6

0.41

585

(3035941) MCH [Entitic mass]

592

0.81

0.19

20.9

19.0

30.2

30.3

0.15

585

(43054914) Glucose tolerance 2 hours panel - Serum or Plasma

1.21

0.19

1.7

—

(40760892) CBC W Ordered Manual Differential panel - Blood

123

1.18

0.14

5.0

6.0

—

(3044640) Blood type and Crossmatch panel - Blood

157

0.86

0.13

2.1

2.6

—

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

222

1.13

0.12

2.7

4.6

—

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

173

1.14

0.12

1.6

1.9

76.5

99.2

pmol/l

1.51

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

115

0.85

0.11

2.2

2.6

—

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

1.18

0.11

1.6

1.3

9.8

27.9

iu/ml

—

(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma

1.16

0.09

1.7

422.7

548.9

pmol/l

0.88

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

113

0.86

0.09

4.4

4.1

—

(3002256) Pathology report gross observation

1.06

0.09

1.2

—

(3032080) INR in Blood by Coagulation assay

176

1.11

0.09

13.9

8.6

1.2

inr

—

(3037522) Nuclear Ab [Titer] in Serum

0.79

0.08

1.3

1.6

—

507.4

—

(3044889) 12 lead EKG panel

336

1.09

0.08

3.8

3.3

—

(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection

0.84

0.07

1.3

2.1

—

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

0.84

0.07

1.3

5.2

0.8

mmol/l

—

(3015736) pH of Urine

191

0.92

0.05

5.0

3.4

—

(3037467) Urinalysis macro (dipstick) panel - Urine

340

0.94

0.04

4.5

3.7

—

(40758558) Short blood count panel - Blood

146

0.95

0.00

5.2

8.6

—

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

166

0.95

0.00

2.2

3.6

33.7

29.8

u/l

0.51

159

(3021960) Folate [Moles/volume] in Serum or Plasma

112

0.98

0.00

1.3

1.5

29.1

21.3

nmol/l

0.62

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

517

1.03

0.00

15.7

13.0

27.1

19.6

mg/l

0.69

389

(3002385) Erythrocyte distribution width [Ratio]

463

0.98

0.00

14.9

15.7

13.9

13.5

0.83

458

(40768804) Tissue Pathology biopsy report

195

1.04

0.00

2.0

1.8

—

(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay

0.00

0.0

1.5

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.0

1.0

—

(40762485) Glomerular basement membrane Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.2

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.0

1.0

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(21494434) Karyotype in Bone marrow

0.00

0.0

1.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.03

0.00

1.1

1.7

—

(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.2

—

(3024928) Oxygen saturation in Venous blood

0.00

0.0

5.0

—

(3016724) Homocysteine [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

9.2

—

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

0.00

0.0

8.6

—

(3000492) Spirometry study

0.96

0.00

2.0

1.3

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.0

1.4

—

(40760888) Immunoglobulin light chains.free panel - Serum

0.00

0.0

10.8

—

(3014702) Chromogranin A [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

1.6

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method

0.00

0.0

1.7

—

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

0.00

0.0

3.0

—

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

0.00

0.0

1.4

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

(3000081) cloZAPine [Moles/volume] in Serum or Plasma

0.00

0.0

29.7

—

1308.6

—

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

0.00

0.0

1.1

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

0.0

1.1

—

(40768441) Liver Pathology biopsy report

0.00

0.0

1.4

—

(3037756) Immunofixation for Serum or Plasma

0.00

0.0

2.7

—

(3008832) Norclozapine [Moles/volume] in Serum or Plasma

0.00

0.0

19.0

—

721.9

—

(21494670) JAK2 gene exon 14 targeted mutation analysis in Blood or Tissue by Molecular genetics method

0.00

0.0

1.2

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.0

1.0

—

(36660697) Celiac disease serology panel - Serum

0.90

0.00

1.3

1.1

—

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

0.00

0.0

2.0

—

2.9

—

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

0.00

0.0

1.0

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

0.0

1.9

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

0.0

1.2

—

34.0

—

(3027529) Toxoplasma gondii IgM Ab [Units/volume] in Serum

0.00

0.0

1.8

—

(3021125) Hepatitis C virus RNA [Presence] in Serum or Plasma by NAA with probe detection

0.00

0.0

1.8

—

(46235128) Lupus anticoagulant aPTT and dRVVT screening panel W Reflex

0.00

0.0

1.2

—

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

0.00

0.0

5.0

—

3.4

—

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

0.00

0.0

3.0

—

2.2

—

(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

4.5

—

45.2

—

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

0.00

0.0

2.1

—

4.7

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

0.00

0.0

2.1

—

59.6

—

(4268621)

0.00

0.0

1.9

—

Mortality – FinRegistry

↥

Association

Association between endpoint G6_CONMYOP and mortality.

Females

Parameter	HR [95% CI]	p-value
G6_CONMYOP	5.957 [3.77, 9.41]	< 0.001
Birth year	0.995 [0.99, 1.0]	0.315

During the follow-up period (1.1.1998 — 31.12.2019), 76 out of 239 females with G6_CONMYOP died.

Males

Parameter	HR [95% CI]	p-value
G6_CONMYOP	4.163 [2.81, 6.18]	< 0.001
Birth year	0.984 [0.97, 0.99]	0.002

During the follow-up period (1.1.1998 — 31.12.2019), 92 out of 270 males with G6_CONMYOP died.

Mortality risk

Mortality risk for people of age

years, who have G6_CONMYOP.

N-year risk	Females	Males
1	0.533%	0.783%
5	3.124%	4.309%
10	8.428%	10.688%
15	15.743%	19.355%
20	26.652%	31.473%

Relationships between endpoints

↥

Index endpoint: G6_CONMYOP – Congenital myopathies

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

Congenital myopathies

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