Risteys · E4_POLYDYSNAS

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 — E31.8, E31.9 Hospital discharge: ICD-9 — 258[8-9] Hospital discharge: ICD-8 — 25810 Cause of death: ICD-10 — E31.8, E31.9 Cause of death: ICD-9 — 258[8-9] Cause of death: ICD-8 — 25810 2 out of 7 registries used, show all original rules.	35
4. Check minimum number of events None	35
5. Include endpoints None	35
6. Filter based on genotype QC (FinnGen only)	35

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	246	148	94
Only index persons	186	121	65
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.00	0.00
Median age at first event (years)
Whole population	40.23	37.92	43.29
Only index persons	37.08	34.94	41.05

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	35	25	10
Unadjusted period prevalence (%)	0.01	0.01	0.00
Median age at first event (years)	36.39	34.01	42.34

-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

Not a core endpoint, no data to show.

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

(3000067) Parathyrin.intact [Mass/volume] in Serum or Plasma

25.50

17.85

2.4

3.6

64.6

81.1

ng/l

—

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

11.97

11.67

9.4

7.0

1.3

1.0

mmol/l

1.56

(3020682) Albumin/Creatinine [Ratio] in Urine

6.45

7.03

5.5

3.3

28.7

9.4

mg/mmol

—

(3018418) pH of Serum or Plasma

6.42

6.91

15.3

6.0

7.4

—

(3012516) Albumin [Mass/volume] in Urine

6.19

6.74

3.9

2.7

167.8

84.5

mg/l

0.20

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

111

7.23

6.56

28.4

8.3

1.1

1.2

mmol/l

2.34

(3024354) Oxygen [Partial pressure] in Venous blood

7.60

3.74

5.3

3.7

5.0

5.1

kpa

—

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

4.28

3.61

2.6

2.0

—

(3012544) pH of Venous blood

6.56

3.42

5.6

3.5

—

(3023368) Bacteria identified in Blood by Culture

3.70

3.33

6.3

3.7

—

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

6.13

3.27

5.6

3.4

5.8

kpa

—

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

6.97

3.19

7.0

1.9

29.5

25.9

mmol/l

—

(3032080) INR in Blood by Coagulation assay

3.43

3.14

10.5

7.3

1.2

inr

—

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

11.34

3.07

4.8

1.2

26.1

25.6

mmol/l

—

(3000991) Gas panel - Venous blood

5.42

3.00

4.4

4.6

—

(3027315) Oxygen [Partial pressure] in Blood

9.44

2.84

9.4

1.3

8.5

kpa

—

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

9.44

2.84

3.2

1.2

—

(3026179) Normetanephrine [Moles/volume] in Serum or Plasma

9.44

2.84

2.8

1.2

0.6

0.5

nmol/l

—

(3013290) Carbon dioxide [Partial pressure] in Blood

9.44

2.84

9.4

1.3

5.9

5.3

kpa

—

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

9.44

2.84

3.2

1.2

—

(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

6.32

2.66

1.5

1.6

—

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

7.05

2.45

1.4

1.3

—

(42870588) Differential panel, method unspecified - Blood

2.90

2.37

9.9

5.1

—

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

2.84

2.31

5.1

1.8

96.9

104.2

pmol/l

—

(3020779) Urea [Moles/volume] in Serum or Plasma

4.93

2.25

11.7

8.1

9.3

5.7

mmol/l

—

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

3.42

2.19

3.3

1.4

1003.6

1254.8

nmol/l

—

(3037467) Urinalysis macro (dipstick) panel - Urine

183

3.07

2.17

6.3

4.2

—

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

2.61

1.97

7.0

2.9

—

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

4.03

1.93

1.8

1.5

—

(40768797) Stomach Pathology biopsy report

3.01

1.91

1.6

1.2

—

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

4.29

1.78

1.4

—

(40761536) Microorganisms panel - Urine sediment

3.40

1.66

3.0

3.6

—

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

3.70

1.58

1.8

1.1

—

(3013512) EKG study

2.41

1.54

4.7

3.8

—

(40758558) Short blood count panel - Blood

2.32

1.43

5.9

7.6

—

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

124

2.16

1.36

5.1

4.1

—

(3019225) pH of Specimen

3.06

1.33

18.8

4.3

—

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

2.50

1.32

2.5

2.3

2.4

mmol/l

—

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

2.68

1.30

2.3

1.8

—

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

2.68

1.30

2.2

1.6

—

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

2.25

1.29

5.9

4.4

0.0

estimate

—

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

2.89

1.26

3.6

3.9

—

(4035726)

2.74

1.19

2.0

1.4

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.74

1.19

1.4

1.5

—

(3000963) Hemoglobin [Mass/volume] in Blood

329

0.38

1.13

44.5

18.3

129.4

135.1

g/l

1.15

324

(3035941) MCH [Entitic mass]

329

0.38

1.13

43.6

18.1

29.8

30.1

0.45

324

(3024731) MCV [Entitic volume]

329

0.38

1.13

43.8

18.2

90.4

90.3

0.05

324

(3000492) Spirometry study

2.60

1.13

1.4

1.2

—

(3006315) Basophils [#/volume] in Blood

142

1.95

1.06

8.7

5.6

0.0

e9/l

0.30

133

(3001604) Monocytes [#/volume] in Blood

142

1.95

1.06

8.7

5.6

0.6

0.5

e9/l

0.61

133

(3044889) 12 lead EKG panel

182

2.01

1.05

4.5

3.6

—

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

2.02

1.05

5.2

1.9

5.5

4.9

e6/l

—

(36304419) Bacteria [Presence] in Urine

2.01

1.01

5.5

2.6

—

(3021589) Normoblasts [#/volume] in Blood

126

1.88

0.97

16.9

9.0

0.0

e9/l

0.48

109

(3000494) Fungus identified in Specimen by Culture

2.28

0.94

2.0

1.6

—

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

128

1.84

0.91

6.5

5.4

0.0

estimate

—

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

2.01

0.91

1.5

5.0

159.0

906.8

ng/l

—

(3019198) Lymphocytes [#/volume] in Blood

149

1.80

0.86

8.9

5.4

2.0

1.8

e9/l

0.37

138

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

130

1.79

0.85

5.3

3.8

0.0

estimate

—

(3026008) Bacteria identified in Urine by Culture

1.84

0.84

4.3

3.0

—

(3002173) Hemoglobin [Mass/volume] in Arterial blood

2.36

0.80

10.6

7.5

110.8

119.2

g/l

—

(3025941) Bacteria identified in Stool by Culture

2.36

0.80

1.2

1.1

—

(3016502) Oxygen saturation in Arterial blood

2.16

0.76

10.6

7.2

95.3

96.3

—

(3003785) Carcinoembryonic Ag [Mass/volume] in Serum or Plasma

2.07

0.74

2.0

5.0

2.9

9.1

ug/l

—

(36660697) Celiac disease serology panel - Serum

1.99

0.71

1.2

1.1

—

(3003396) Base excess in Arterial blood by calculation

1.99

0.71

10.6

7.2

6.5

2.3

mmol/l

—

(3027946) Carbon dioxide [Partial pressure] in Arterial blood

1.91

0.69

10.6

6.9

5.9

5.1

kpa

—

(3027801) Oxygen [Partial pressure] in Arterial blood

1.91

0.69

10.6

6.9

11.0

12.9

kpa

—

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

1.75

0.64

6.5

3.9

—

(3017732) Neutrophils [#/volume] in Blood

0.00

0.62

0.0

1.3

—

3.2

—

(3033658) Prothrombin time (PT) actual/Normal

1.72

0.60

6.0

3.3

92.4

94.1

—

(1761868) Lipid panel - Serum or Plasma

115

0.61

0.59

5.0

2.7

—

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

1.57

0.58

3.8

2.1

—

(3044640) Blood type and Crossmatch panel - Blood

1.63

0.56

3.2

2.1

—

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

1.69

0.53

1.7

4.8

1.3

2.0

ug/l

—

(3009542) Hematocrit [Volume Fraction] of Blood

271

0.64

0.48

28.3

11.8

40.1

39.8

0.08

215

(3002256) Pathology report gross observation

1.60

0.43

1.4

1.2

—

(3042936) Bacteria identified in Isolate by Culture

1.55

0.42

1.2

1.8

—

(3037522) Nuclear Ab [Titer] in Serum

1.55

0.42

1.4

1.6

—

413.3

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.42

0.0

1.4

—

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

102

1.44

0.37

6.8

3.8

—

(3048689) Calprotectin [Mass/mass] in Stool

1.44

0.37

1.5

2.1

521.0

59.4

ug/g

—

(40761511) CBC panel - Blood by Automated count

305

0.71

0.36

32.6

11.6

—

(3015736) pH of Urine

106

1.36

0.28

5.2

3.3

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.29

0.28

5.0

6.1

—

(3017895) Helicobacter pylori Ab [Units/volume] in Serum

0.00

0.22

0.0

1.9

—

(4094501)

0.00

0.22

0.0

1.0

—

(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma

0.00

0.21

0.0

1.6

—

(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum

0.00

0.21

0.0

1.7

—

325.8

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.20

0.0

1.6

—

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

0.72

0.19

3.0

1.3

—

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

0.69

0.19

2.0

1.4

—

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

102

1.27

0.18

3.5

2.6

30.3

28.3

u/l

0.15

(40768804) Tissue Pathology biopsy report

104

1.23

0.15

2.4

1.8

—

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

214

1.22

0.14

3.0

3.2

—

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

307

0.84

0.10

38.2

14.0

88.2

71.1

umol/l

1.02

307

(3019150) Specific gravity of Urine by Refractometry

1.16

0.09

8.6

3.3

—

1.0

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.09

0.08

4.1

3.1

—

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

1.08

0.08

2.1

1.5

—

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

0.00

0.0

1.2

—

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

293

1.17

0.00

41.3

12.8

139.0

139.8

mmol/l

0.60

284

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

0.00

0.0

3.4

—

29.5

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

0.00

0.0

1.2

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.0

1.6

—

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

0.00

0.0

1.2

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.4

—

46.8

—

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

0.00

0.0

1.2

—

(4034850)

0.00

0.0

6.3

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.0

1.6

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.7

—

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

0.94

0.00

1.7

1.6

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.0

1.2

—

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

0.98

0.00

1.7

1.9

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.2

—

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

294

1.14

0.00

42.2

13.0

4.0

3.9

mmol/l

0.59

285

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

0.00

0.0

1.1

—

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

0.00

0.0

1.1

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

2.5

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.0

1.2

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.1

—

(1002224) Polysomnography panel

0.00

0.0

1.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_POLYDYSNAS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_POLYDYSNAS.

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: E4_POLYDYSNAS – Polyglandular dysfunction, other/unspecified

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	E4_POLYDYSNAS
CONTROL_EXCLUDE	E4_ENDOGLAND
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E31[8-9]
HD_ICD_9	258[8-9]
HD_ICD_8	25810
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E31[8-9]
COD_ICD_9	258[8-9]
COD_ICD_8	25810
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

Polyglandular dysfunction, other/unspecified

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