Systemic disorders of connective tissue in diseases classified elsewhere (FG)

SYSTINOTH_FG

connective tissue disease: A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects.

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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 None 0 out of 7 registries used, show all original rules.	0
4. Check minimum number of events None	0
5. Include endpoints DERMATOPOLY_NEOPLASM ARTHROPATHY_NEOPLASM ARTHROPATHY_HYPERSENS	77
6. Filter based on genotype QC (FinnGen only)	75

Control definitions (FinnGen only)

Control exclude: RHEUMA_ENDPOINTS

Extra metadata

First used in FinnGen datafreeze: DF2

NAME	SYSTINOTH_FG
CONTROL_EXCLUDE	RHEUMA_ENDPOINTS
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE	DERMATOPOLY_NEOPLASM\|ARTHROPATHY_NEOPLASM\|ARTHROPATHY_HYPERSENS
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10
COD_ICD_9
COD_ICD_8
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

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List of similar endpoints to Systemic disorders of connective tissue in diseases classified elsewhere (FG) based on the number of shared cases.

Similar with more cases:

Similar with less cases:

Case counts by codes

↥

FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	1123	499	623
Only index persons	887	401	486
Unadjusted period prevalence (%)
Whole population	0.02	0.01	0.02
Only index persons	0.02	0.01	0.02
Median age at first event (years)
Whole population	14.71	17.68	12.30
Only index persons	19.58	23.11	16.67

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	75	43	32
Unadjusted period prevalence (%)	0.02	0.02	0.01
Median age at first event (years)	56.59	52.75	61.76

-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
77: Matched controls
770

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

M36.4*D69.0

ICD-10 Finland

Arthropathy in Henoch(-Schönlein) purpura

+∞

54.9

D69.0

ICD-10 Finland

Allergic purpura

507.8

33.6

M36.1*C90.0

ICD-10 Finland

Arthropathy in multiple myeloma

+∞

19.6

A12AX

ATC

Calcium, combinations with vitamin D and/or other drugs

6.7

15.9

134

C90.0

ICD-10 Finland

Multiple myeloma

71.5

15.5

N08.2*D69.0

ICD-10 Finland

Glomerular disorders in Henoch(-Schönlein) purpura

+∞

15.1

M13.9

ICD-10 Finland

Arthritis, unspecified

49.6

13.8

9732/3-C42.1

ICD-O-3

Plasma cell myeloma of bone marrow

61.1

13.4

H02AB06

ATC

prednisolone; systemic

5.3

11.8

191

NK4XE

NOMESCO Finland

Joint ultrasound examination not elsewhere classified

70.0

11.0

202

Kela drug reimbursment

Connective tissue diseases, rheumatoid arthritis and comparable disease

22.8

10.8

117

Kela drug reimbursment

Leukaemia and other malignant diseases of the blood and bone marrow, and malignant diseases of the lymphatic tissue

12.5

9.6

R50.9

ICD-10 Finland

Fever, unspecified

4.8

8.7

A49.9

ICD-10 Finland

Bacterial infection, unspecified

5.7

8.7

M36.4

ICD-10 Finland

Arthropathy in hypersensitivity reactions classified elsewhere

+∞

8.5

H02AB02

ATC

dexamethasone; systemic

5.3

8.3

N02AA05

ATC

oxycodone; systemic

5.1

8.3

H02AB07

ATC

prednisone; oral

5.6

8.1

J01MA12

ATC

levofloxacin; systemic

4.6

8.1

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

4.8

8.0

L95.9

ICD-10 Finland

Vasculitis limited to skin, unspecified

+∞

7.4

KA3AT

NOMESCO Finland

Biopsy of kidney with ultrasound guidance

33.5

7.3

B01AB05

ATC

enoxaparin; parenteral

3.8

6.9

106

TNX10

NOMESCO Finland

Arthrocentesis, unspecified region, unspecified region

44.1

6.9

M04AA01

ATC

allopurinol; systemic

6.5

6.6

NA3AA

NOMESCO Finland

Lumbar spine X-ray examination without contrast

7.5

6.6

L04AX04

ATC

lenalidomide; oral

75.9

6.5

M05BA02

ATC

clodronic acid; systemic

20.1

6.4

N08.2

ICD-10 Finland

Glomerular disorders in blood diseases and disorders involving the immune mechanism

+∞

6.3

N02AX02

ATC

tramadol; systemic, rectal

3.4

6.2

140

A02BC02

ATC

pantoprazole; systemic

3.7

6.1

337

NG1AA

NOMESCO Finland

Knee X-ray examination without contrast

9.2

6.1

NE1AA

NOMESCO Finland

Pelvis X-ray examination

8.0

6.0

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3037522) Nuclear Ab [Titer] in Serum

12.63

24.96

1.8

1.5

571.43

430.00

titre

—

(3004588) Protein electrophoresis panel - Serum or Plasma

14.60

14.03

9.5

3.0

—

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

15.42

12.21

1.5

1.1

0.22

0.23

g/l

0.09

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

15.42

12.21

1.5

1.2

1.23

1.15

g/l

0.35

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

18.24

10.00

4.7

1.8

—

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

6.49

9.95

2.8

1.5

—

(40760892) CBC W Ordered Manual Differential panel - Blood

238

4.14

8.40

12.1

6.3

—

(3037756) Immunofixation for Serum or Plasma

17.44

8.01

5.4

1.1

—

(3007164) IgA [Mass/volume] in Serum or Plasma

138

3.82

7.58

4.2

1.3

2.81

2.18

g/l

1.23

(3017704) Immunofixation for Urine

+∞

7.40

2.7

0.0

—

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

8.95

6.43

9.4

4.4

24.05

25.56

mmol/l

0.96

(3002621) Streptococcal DNAse B [Units/volume] in Serum

+∞

6.33

1.2

0.0

—

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

14.11

6.28

1.4

1.1

—

(3022313) Gas panel - Capillary blood

7.52

6.20

10.5

5.2

—

(3023520) Reticulocytes [#/volume] in Blood

5.76

6.08

2.9

2.7

72.92

64.03

e9/l

0.45

(40758558) Short blood count panel - Blood

143

3.29

5.93

10.0

6.4

—

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

11.27

5.72

1.4

1.3

—

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

4.33

5.54

1.3

1.4

—

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

12.52

5.44

1.4

1.1

—

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

3.40

5.04

1.8

1.4

—

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

207

2.79

4.67

9.5

3.0

—

(3012336) Haptoglobin [Mass/volume] in Serum or Plasma

5.92

4.33

1.5

1.8

1.32

1.76

g/l

0.55

(40760888) Immunoglobulin light chains.free panel - Serum

9.47

3.86

15.9

5.1

—

(3002582) Erythrocytes [#/volume] in Urine

182

2.55

3.84

9.2

3.2

30.51

52.58

e6/l

0.60

141

(3046294) Neutrophil cytoplasmic Ab.classic [Titer] in Serum

12.84

3.83

1.7

1.2

—

(40768443) Skin Pathology biopsy report

4.95

3.79

1.2

—

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

2.83

3.64

6.1

2.5

0.32

1.03

e6/l

1.48

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

8.41

3.64

1.0

—

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

271

2.46

3.63

26.2

6.1

1.22

mmol/l

0.02

230

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

10.70

3.56

1.2

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.96

3.52

2.7

1.8

—

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

7.56

3.44

1.3

1.4

—

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

7.56

3.44

1.3

2.0

—

(3023368) Bacteria identified in Blood by Culture

138

2.47

3.28

6.5

4.0

—

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

2.72

3.28

7.0

2.6

1.50

1.55

e6/l

0.02

(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay

6.87

3.26

5.7

1.7

2.77

3.12

g/l

—

(3042936) Bacteria identified in Isolate by Culture

2.79

3.06

4.4

2.2

—

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

7.11

2.92

6.0

2.0

—

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

7.11

2.92

6.0

2.0

—

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

4.29

2.88

1.1

1.8

—

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

5.38

2.79

6.1

1.9

—

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

5.38

2.79

5.4

1.9

—

(36304419) Bacteria [Presence] in Urine

163

2.25

2.79

9.5

3.1

—

(3000991) Gas panel - Venous blood

2.99

2.79

8.7

8.0

—

(3018095) Leukocytes [#/volume] in Urine

214

2.17

2.73

12.1

3.5

17.17

84.04

e6/l

1.41

150

(3030467) Casts [#/volume] in Urine by Automated count

165

2.22

2.70

9.7

3.0

0.21

0.43

e6/l

0.62

125

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

5.81

2.59

6.7

1.8

—

(3021589) Normoblasts [#/volume] in Blood

262

2.10

2.58

14.1

9.4

0.00

0.01

e9/l

0.56

206

(3019225) pH of Specimen

2.91

2.49

28.9

3.9

—

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

6.59

2.41

1.2

1.0

—

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

6.59

2.41

2.0

2.3

—

(3025941) Bacteria identified in Stool by Culture

3.22

2.38

1.1

1.4

—

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

117

2.23

2.37

1.9

1.5

—

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

2.41

2.34

4.2

1.8

—

(3000850) Epithelial cells [#/volume] in Urine

126

2.18

2.31

7.9

2.7

2.95

5.68

e6/l

1.54

116

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

5.85

2.25

1.0

1.1

—

(3005895) Myoglobin [Mass/volume] in Serum or Plasma

5.85

2.25

1.6

1.1

124.60

757.19

ug/l

—

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

5.85

2.25

1.0

—

(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay

5.85

2.25

1.0

—

(3012516) Albumin [Mass/volume] in Urine

161

2.04

2.17

5.0

3.0

198.00

489.11

mg/l

0.32

102

(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

3.45

2.16

1.9

1.4

—

(3014148) Varicella zoster virus Ab [Titer] in Serum

5.26

2.10

1.0

—

(3034770) Mitochondria Ab [Titer] in Serum

5.26

2.10

1.4

—

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

3.97

1.97

1.0

1.1

—

(3008898) HLA-B27 [Presence]

4.78

1.97

1.2

1.0

—

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

3.73

1.87

1.2

1.4

—

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

3.73

1.87

3.0

1.6

—

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

4.37

1.85

1.0

1.9

—

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

4.37

1.85

1.0

1.9

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

2.24

1.85

1.7

—

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

137

1.97

1.82

6.7

2.6

—

(3026782) Osmolality of Urine

129

1.99

1.82

9.5

3.0

614.05

559.21

mosm/kgh2o

0.54

113

(3018418) pH of Serum or Plasma

162

1.91

1.81

9.7

4.6

7.40

—

(3007628) Bicarbonate [Moles/volume] standard in Venous blood

2.69

1.81

10.2

5.7

24.09

24.35

mmol/l

—

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

3.52

1.78

2.5

1.2

—

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

3.52

1.78

8.8

1.6

—

(1616796) Gas panel - Central venous blood

4.03

1.74

1.6

3.7

—

(3037467) Urinalysis macro (dipstick) panel - Urine

407

1.86

1.72

11.5

3.6

—

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

2.35

1.71

1.4

1.7

—

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

2.52

1.66

3.1

3.8

—

(40768797) Stomach Pathology biopsy report

2.20

1.60

1.3

1.1

—

(3015736) pH of Urine

248

1.75

1.58

5.7

2.7

5.70

5.98

—

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

144

1.85

1.55

2.1

2.0

—

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

3.49

1.55

1.2

1.3

—

(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum

3.01

1.54

1.3

—

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

2.87

1.46

1.3

3.2

18.50

36.11

u/ml

—

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

3.27

1.46

4.2

2.6

—

(3028626) Oxygen [Partial pressure] in Capillary blood

3.27

1.46

11.8

9.0

10.34

8.81

kpa

—

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

300

1.69

1.44

6.0

3.2

0.00

estimate

—

(3044640) Blood type and Crossmatch panel - Blood

165

1.76

1.42

6.0

2.3

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.74

1.39

2.2

2.0

—

(3045414) Leukocytes [Presence] in Urine

2.74

1.39

1.7

—

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

297

1.63

1.28

6.1

3.2

0.00

estimate

—

(3006418) Campylobacter sp identified in Tissue by Organism specific culture

2.74

1.23

1.0

1.2

—

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

301

1.60

1.19

9.6

4.4

0.00

estimate

—

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

2.05

1.19

1.2

1.8

—

(3014765) Yersinia sp identified in Stool by Organism specific culture

2.60

1.17

1.0

1.2

—

(42529406) Shigella sp [Presence] in Stool by Culture

2.60

1.17

1.0

1.2

—

(40761535) Cells panel - Urine sediment

2.11

1.16

4.3

2.6

—

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

1.90

1.00

5.1

3.8

28.73

33.57

0.74

(3022217) INR in Platelet poor plasma by Coagulation assay

237

1.52

0.94

20.2

11.4

1.84

1.37

inr

—

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

392

1.51

0.94

5.5

3.9

—

23.80

—

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

156

1.57

0.93

1.4

1.3

4.59

1.26

u/ml

—

(4035726) Immunohistochemistry procedure

1.87

0.87

1.1

1.4

—

(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal

1.74

0.81

1.0

—

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

1.61

0.67

1.3

—

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

555

0.72

0.63

6.4

4.1

5.73

5.91

mmol/l

0.58

507

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.60

0.0

1.4

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.60

0.0

1.4

—

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

1.54

0.53

1.0

1.4

—

(3019309) Folate [Moles/volume] in Red Blood Cells

1.46

0.50

1.6

1273.88

1209.63

nmol/l

—

(3022145) Colonoscopy Study observation

1.54

0.50

1.6

1.3

—

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

123

1.38

0.45

7.4

2.2

—

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

590

1.37

0.43

38.6

12.3

16.74

25.03

mg/l

2.25

443

(40768793) Breast Pathology biopsy report

0.00

0.41

0.0

1.1

—

(3000494) Fungus identified in Specimen by Culture

1.43

0.40

4.6

1.5

—

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

0.00

0.40

0.0

2.2

—

(3002256) Pathology report gross observation

1.34

0.39

1.1

1.2

—

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

154

1.31

0.39

1.8

1.9

—

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

549

0.79

0.37

4.8

4.0

1.34

1.47

mmol/l

1.21

508

(3004716) Salmonella sp identified in Stool by Organism specific culture

1.50

0.37

1.0

1.3

—

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

548

0.79

0.36

5.3

4.3

1.98

1.88

mu/l

0.31

498

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

0.66

0.35

1.7

2.4

—

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

101

1.35

0.34

2.5

3.4

16.14

296.18

ng/l

—

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

597

1.30

0.33

33.4

13.8

139.16

139.62

mmol/l

0.93

579

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

597

1.30

0.33

34.5

13.9

3.95

mmol/l

0.02

579

(36660697) Celiac disease serology panel - Serum

1.27

0.30

1.1

—

(3026008) Bacteria identified in Urine by Culture

179

1.24

0.29

5.6

3.1

—

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

434

0.84

0.27

3.6

3.4

—

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

0.72

0.24

1.9

2.6

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

518

0.85

0.22

6.2

5.4

37.26

39.84

mmol/mol

1.74

483

(40768800) Prostate Pathology biopsy report

0.00

0.21

0.0

1.2

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.21

0.0

1.2

—

(3014326) Insulin-like growth factor-I [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

1.5

—

19.99

—

(3024928) Oxygen saturation in Venous blood

0.00

0.21

0.0

3.1

—

(3019230) Fractional oxyhemoglobin in Venous blood

0.00

0.21

0.0

3.0

—

62.46

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.21

0.0

1.1

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.21

0.0

1.5

—

(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain

0.00

0.21

0.0

1.2

—

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

247

0.85

0.21

6.6

2.4

—

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

0.00

0.20

0.0

1.4

—

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

623

0.83

0.20

40.1

14.3

91.88

76.44

umol/l

0.70

623

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

526

0.86

0.20

5.0

3.7

1.63

1.26

mmol/l

1.55

488

(4200892) Spirometry reversibility

1.19

0.20

1.3

1.2

—

(3009542) Hematocrit [Volume Fraction] of Blood

679

0.80

0.19

46.4

17.2

39.50

40.05

0.40

641

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

450

0.90

0.13

4.6

3.6

14.46

14.99

pmol/l

0.68

406

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

203

1.12

0.11

2.7

1.8

71.74

95.00

pmol/l

2.44

102

(3016502) Oxygen saturation in Arterial blood

1.15

0.10

3.8

5.5

97.92

94.91

—

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

0.81

0.08

6.8

7.4

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.16

0.08

1.5

1.8

—

(3041096) Erythrocytes [Presence] in Urine by Automated

167

1.10

0.07

4.0

3.3

—

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

173

0.91

0.07

1.4

—

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

547

1.09

0.07

24.4

11.5

83.42

83.58

ml/min/173m2

0.01

423

(40761511) CBC panel - Blood by Automated count

629

1.10

0.06

31.3

11.2

—

(1761868) Lipid panel - Serum or Plasma

191

0.92

0.05

2.3

3.0

—

(3013512) EKG study

152

1.07

0.02

4.7

4.0

—

(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma

123

1.07

0.02

3.5

4.1

18.76

24.75

—

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

233

1.04

0.01

5.0

3.3

—

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

156

0.95

0.00

5.8

3.3

0.00

0.02

estimate

—

(40768804) Tissue Pathology biopsy report

214

1.04

0.00

2.3

2.1

—

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

214

1.04

0.00

5.2

3.3

289.16

35.30

ng/l

0.77

145

(3044889) 12 lead EKG panel

375

1.03

0.00

3.2

3.6

—

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

0.00

0.0

2.0

—

(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count

0.00

0.0

5.7

—

(40768441) Liver Pathology biopsy report

0.00

0.0

1.0

—

(3003245) Complement C1 esterase inhibitor [Mass/volume] in Serum or Plasma

0.00

0.0

1.2

—

0.29

—

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

0.00

0.0

1.3

—

(3033386) Bacteria [Presence] in Cerebral spinal fluid by Light microscopy

0.00

0.0

1.0

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

0.0

1.5

—

28.67

—

(3023659) Complement C1 esterase inhibitor.functional/Complement C1 esterase inhibitor.total in Serum or Plasma

0.00

0.0

1.2

—

110.00

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma

0.00

0.0

2.0

—

14.45

—

(3016244) Insulin [Units/volume] in Serum or Plasma

0.00

0.0

2.2

—

6.75

—

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

0.00

0.0

2.2

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.0

—

(3006257) Acetylcholine receptor Ab [Moles/volume] in Serum

0.00

-0.00

0.0

1.0

—

(3035637) Corticotropin [Mass/volume] in Plasma

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

2.7

—

2.80

—

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

0.00

-0.00

0.0

1.6

—

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

0.96

-0.00

1.4

2.0

—

(42529215) Follitropin [Units/volume] in Serum or Plasma by Immunoassay

0.00

-0.00

0.0

2.0

—

4.94

—

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

0.00

-0.00

0.0

1.3

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

-0.00

0.0

3.3

—

87.86

—

(3000492) Spirometry study

0.98

-0.00

1.2

—

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

0.00

-0.00

0.0

1.4

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

0.00

-0.00

0.0

1.0

—

(44813793) Dust mix specific IgE antibody measurement

0.00

-0.00

0.0

1.2

—

(3005570) Glucose [Moles/volume] in Urine

0.00

-0.00

0.0

3.3

—

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

0.95

-0.00

8.5

5.6

103.33

103.95

mmol/l

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

0.00

-0.00

0.0

8.8

—

212.20

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.0

—

(3011391) Calcitriol [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.6

—

(3000012) Reticulocyte production index

0.00

-0.00

0.0

1.4

—

(3023410) Appearance of Cerebral spinal fluid

0.00

-0.00

0.0

2.0

—

(3025130) Human papilloma virus identified in Specimen

0.00

-0.00

0.0

2.4

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint SYSTINOTH_FG and mortality.

Females

Parameter	HR [95% CI]	p-value
SYSTINOTH_FG	6.501 [4.18, 10.11]	< 0.001
Birth year	0.999 [0.99, 1.01]	0.748

During the follow-up period (1.1.1998 — 31.12.2019), 99 out of 452 females with SYSTINOTH_FG died.

Males

Parameter	HR [95% CI]	p-value
SYSTINOTH_FG	4.561 [2.89, 7.19]	< 0.001
Birth year	0.99 [0.98, 1.0]	0.024

During the follow-up period (1.1.1998 — 31.12.2019), 108 out of 560 males with SYSTINOTH_FG died.

Mortality risk

Mortality risk for people of age

years, who have SYSTINOTH_FG.

N-year risk	Females	Males
1	0.869%	0.862%
5	4.764%	5.226%
10	10.807%	12.795%
15	18.419%	24.153%
20	30.062%	38.855%

Relationships between endpoints

↥

Index endpoint: SYSTINOTH_FG – Systemic disorders of connective tissue in diseases classified elsewhere (FG)

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

Systemic disorders of connective tissue in diseases classified elsewhere (FG)

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