Risteys · G6_IPNEUROP

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 — G60.3 Hospital discharge: ICD-9 — 3564A Cause of death: ICD-10 — G60.3 Cause of death: ICD-9 — 3564A 2 out of 7 registries used, show all original rules.	54
4. Check minimum number of events None	54
5. Include endpoints None	54
6. Filter based on genotype QC (FinnGen only)	54

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	509	207	286
Only index persons	283	119	164
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.01
Only index persons	0.01	0.00	0.01
Median age at first event (years)
Whole population	66.12	66.65	65.56
Only index persons	57.39	56.76	57.85

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	54	23	31
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	57.08	57.78	56.55

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

No data

-FinnGen-

Cumulative Incidence Function

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.

No data available

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

7.42

6.72

2.8

2.2

—

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

163

3.36

4.55

3.1

3.6

—

(3000330) Specific gravity of Urine by Test strip

7.46

4.18

6.6

4.8

—

(3038515) Glucose [Moles/volume] in Venous blood

11.24

4.14

4.4

5.3

7.5

8.4

mmol/l

—

(3004119) Hemoglobin [Mass/volume] in Venous blood

4.89

4.08

3.5

3.1

133.1

122.8

g/l

—

(3024354) Oxygen [Partial pressure] in Venous blood

4.25

4.03

4.2

4.7

4.5

kpa

0.12

(3008037) Lactate [Moles/volume] in Venous blood

9.82

3.89

4.4

4.8

1.7

1.5

mmol/l

—

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

122

2.95

3.64

3.5

3.3

0.1

0.3

e6/l

1.10

(3012544) pH of Venous blood

3.88

3.59

4.4

4.1

—

(3021447) Carbon dioxide [Partial pressure] in Venous blood

3.77

3.46

4.4

4.0

5.9

5.4

kpa

0.80

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

3.25

3.42

2.4

3.3

0.5

1.1

e6/l

1.11

(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood

4.92

3.16

4.6

4.1

59.3

54.3

—

(3027273) Bicarbonate [Moles/volume] in Venous blood

4.92

3.16

3.9

4.1

27.0

23.2

mmol/l

—

(36304419) Bacteria [Presence] in Urine

115

2.74

3.11

3.3

3.4

—

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

5.32

3.05

1.1

1.7

—

(3004588) Protein electrophoresis panel - Serum or Plasma

3.58

3.00

1.3

2.5

—

(1761482) Bacteria [#/volume] in Urine by Culture

7.33

2.95

8.2

6.1

—

(3020630) Protein [Mass/volume] in Serum or Plasma

3.38

2.77

1.4

3.4

68.7

67.7

g/l

0.16

(3018095) Leukocytes [#/volume] in Urine

155

2.48

2.69

4.1

4.2

11.2

48.1

e6/l

1.61

117

(3037467) Urinalysis macro (dipstick) panel - Urine

279

2.67

2.58

6.5

4.5

—

(3037756) Immunofixation for Serum or Plasma

6.74

2.42

1.0

1.1

—

(3009445) Proteinase 3 Ab [Units/volume] in Serum

4.68

2.21

1.0

1.1

—

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

3.27

2.19

1.8

1.4

—

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

101

2.36

2.16

2.9

3.0

4.4

4.3

e6/l

0.04

(3007853) Bacteria identified in Skin by Aerobe culture

2.75

2.00

1.9

2.0

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

3.50

1.95

3.1

2.9

1.1

1.2

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

3.50

1.95

3.1

2.9

0.8

—

(3019150) Specific gravity of Urine by Refractometry

2.30

1.92

6.0

5.3

1.0

kg/l

—

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

2.49

1.90

2.6

3.5

0.1

2.1

e6/l

—

(3015736) pH of Urine

156

2.12

1.90

7.3

4.1

—

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

115

2.17

1.86

2.2

3.2

28.6

36.5

u/l

0.63

109

(3023368) Bacteria identified in Blood by Culture

128

2.05

1.66

4.7

—

(40768797) Stomach Pathology biopsy report

2.40

1.57

1.5

1.3

—

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

2.44

1.50

1.2

1.7

—

(40761535) Cells panel - Urine sediment

2.43

1.45

3.3

3.9

—

(42870588) Differential panel, method unspecified - Blood

137

1.87

1.32

5.3

4.7

—

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

1.98

1.28

1.9

2.2

—

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

113

1.89

1.27

1.6

1.5

17.6

21.0

nmol/l

0.31

(3041096) Erythrocytes [Presence] in Urine by Automated

113

1.89

1.27

5.9

3.8

—

(3018010) Neutrophils/100 leukocytes in Blood

195

1.77

1.21

6.0

5.1

59.4

57.7

0.37

188

(3042936) Bacteria identified in Isolate by Culture

2.13

1.15

1.8

2.0

—

(3013512) EKG study

143

1.77

1.13

6.3

4.6

—

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

266

1.75

1.12

3.7

4.7

6.8

6.7

mmol/l

0.12

252

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

2.20

1.12

1.1

1.4

—

(3000494) Fungus identified in Specimen by Culture

2.20

1.12

1.2

1.5

—

(3006504) Eosinophils/100 leukocytes in Blood

192

1.68

1.03

6.1

5.2

2.6

2.8

0.12

183

(3019069) Monocytes/100 leukocytes in Blood

193

1.67

1.01

6.2

5.5

9.3

8.7

0.39

184

(3030981) Hyaline casts [#/volume] in Urine by Automated count

2.37

0.97

2.2

3.8

0.2

0.1

e6/l

—

(3022313) Gas panel - Capillary blood

2.20

0.92

5.2

4.2

—

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

178

1.63

0.91

4.5

4.2

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.75

0.89

3.3

4.9

—

(3026008) Bacteria identified in Urine by Culture

125

1.66

0.88

5.0

3.1

—

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

162

1.60

0.85

7.5

4.4

—

(3026782) Osmolality of Urine

1.68

0.79

3.9

3.2

586.7

576.3

mosm/kgh2o

0.05

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

1.72

0.76

1.9

1.4

2.9

3.4

g/l

—

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

1.91

0.76

2.6

1.6

—

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

2.10

0.75

2.2

1.3

2.2

1.1

g/l

—

(3026493) Urate [Moles/volume] in Serum or Plasma

112

1.61

0.75

2.6

2.9

304.0

4203.5

umol/l

0.50

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

1.76

0.71

1.0

1.4

—

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

1.94

0.70

4.0

2.0

14.3

9.8

g/l

—

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

179

1.50

0.67

2.3

1.9

98.5

93.8

pmol/l

0.23

(3044889) 12 lead EKG panel

301

0.68

0.63

4.0

4.2

—

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

1.73

0.63

1.0

2.5

1.3

1.5

—

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

0.00

0.62

0.0

1.7

—

(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation

1.86

0.61

5.8

4.5

2.8

1.8

mmol/l

—

(3014111) Lactate [Moles/volume] in Serum or Plasma

1.80

0.60

1.3

4.5

1.4

1.6

mmol/l

—

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

1.63

0.57

6.1

8.2

—

(3000991) Gas panel - Venous blood

1.65

0.56

3.7

5.8

—

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

1.60

0.55

3.3

1.2

—

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

1.64

0.51

1.3

1.5

—

(3044640) Blood type and Crossmatch panel - Blood

124

1.41

0.45

2.1

2.4

—

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

200

1.36

0.45

2.4

2.5

—

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

1.67

0.44

1.6

1.3

—

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

1.57

0.42

1.2

1.4

—

(3012501) Base excess in Blood by calculation

0.00

0.42

0.0

2.3

—

3.0

—

(3027315) Oxygen [Partial pressure] in Blood

0.00

0.42

0.0

2.3

—

7.7

—

(3013290) Carbon dioxide [Partial pressure] in Blood

0.00

0.42

0.0

2.3

—

5.3

—

(3014218) Bicarbonate [Moles/volume] standard in Arterial blood

0.00

0.40

0.0

6.7

—

25.0

—

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

1.52

0.37

3.3

1.8

—

(3009542) Hematocrit [Volume Fraction] of Blood

346

1.33

0.36

21.4

16.3

34.5

39.4

0.95

224

(3036481) Cortisol [Moles/volume] in Serum or Plasma

1.34

0.34

2.5

1.7

389.3

358.3

nmol/l

—

(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma

1.34

0.34

1.2

2.7

5.8

10.3

umol/l

—

(3019225) pH of Specimen

1.34

0.34

2.7

4.6

—

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

1.36

0.30

2.9

1.9

—

(3000963) Hemoglobin [Mass/volume] in Blood

454

0.74

0.29

33.0

23.6

130.5

133.7

g/l

0.88

448

(3035941) MCH [Entitic mass]

454

0.74

0.29

32.8

23.4

30.2

30.4

0.20

448

(3022217) INR in Platelet poor plasma by Coagulation assay

1.27

0.29

61.1

32.5

—

1.5

—

(3007461) Platelets [#/volume] in Blood

453

0.75

0.27

33.0

23.5

247.8

244.6

e9/l

0.10

445

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

1.33

0.27

1.5

1.4

—

(3024731) MCV [Entitic volume]

453

0.75

0.27

32.8

23.5

91.1

91.4

0.12

447

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

0.70

0.26

6.3

3.5

2.5

mmol/l

—

(40768804) Tissue Pathology biopsy report

164

0.80

0.22

2.3

2.1

—

(3002256) Pathology report gross observation

1.21

0.22

1.0

1.2

—

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

0.00

0.21

0.0

1.3

—

(3052851) Hemolysis interference index of Serum or Plasma

0.00

0.21

0.0

3.9

—

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

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

2.6

—

(3022145) Colonoscopy Study observation

1.22

0.20

1.5

1.3

—

(4034850)

0.00

0.20

0.0

20.8

—

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

0.00

0.20

0.0

1.5

—

(3002385) Erythrocyte distribution width [Ratio]

340

1.18

0.16

22.8

19.7

13.7

0.01

333

(3018418) pH of Serum or Plasma

124

1.17

0.13

3.4

4.5

—

7.4

—

(4035726)

1.05

0.09

1.0

1.3

—

(1761868) Lipid panel - Serum or Plasma

138

1.12

0.07

3.1

3.4

—

(40761511) CBC panel - Blood by Automated count

428

0.92

0.03

19.1

16.3

—

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

433

0.97

0.00

25.2

18.8

139.8

139.6

mmol/l

0.19

418

(40758558) Short blood count panel - Blood

105

0.94

0.00

9.9

6.9

—

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

435

0.94

0.00

24.6

18.6

4.0

mmol/l

0.38

420

(3005013) Prostate Specific Ag Free [Mass/volume] in Serum or Plasma

112

0.98

0.00

3.5

2.7

1.3

0.8

ug/l

0.45

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

0.00

0.0

1.6

—

4.3

—

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

0.00

0.0

1.1

—

(4146454)

0.00

0.0

2.7

—

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

0.00

0.0

5.1

—

142.9

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

0.00

0.0

1.9

—

60.6

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

1.1

—

90.0

—

(3024928) Oxygen saturation in Venous blood

0.00

0.0

2.0

—

(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain

0.00

0.0

1.0

—

(3027456) Digoxin [Moles/volume] in Serum or Plasma

0.00

0.0

3.2

—

0.7

—

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

1.00

0.00

8.8

4.2

—

(3017569) Oxygen content in Arterial blood

0.00

0.0

14.6

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.3

—

(40768806) Pleura Pathology biopsy report

0.00

0.0

1.0

—

(40764126) Parainfluenza virus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.2

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.0

1.8

—

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

0.00

0.0

1.2

—

(3010156) C reactive protein [Mass/volume] in Serum or Plasma by High sensitivity method

0.00

0.0

1.6

—

5.3

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

3.2

—

(3042631) Mycobacterium sp identified in Specimen

0.00

0.0

1.4

—

(3034274) Bile acid [Moles/volume] in Serum --fasting

0.00

0.0

3.0

—

10.0

—

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

0.00

0.0

1.8

—

11.3

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.0

1.2

—

Mortality – FinRegistry

↥

Association

Association between endpoint G6_IPNEUROP and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have G6_IPNEUROP.

N-year risk	Females	Males
1	No data	No data
5	No data	No data
10	No data	No data
15	No data	No data
20	No data	No data

Relationships between endpoints

↥

Index endpoint: G6_IPNEUROP – Idiopathic progressive neuropathy

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

NAME	G6_IPNEUROP
CONTROL_EXCLUDE	G6_POLYNEU
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	G603
HD_ICD_9	3564A
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	G603
COD_ICD_9	3564A
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

Idiopathic progressive neuropathy

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

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

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

CodeWAS (R11)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints