Epidermolysis bullosa

Q17_EPIDERMOL_BULLOSA

epidermolysis bullosa: a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.

Suggest a new description

Endpoint definition

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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 — Q81 Cause of death: ICD-10 — Q81 2 out of 7 registries used, show all original rules.	53
4. Check minimum number of events None	53
5. Include endpoints None	53
6. Filter based on genotype QC (FinnGen only)	53

Control definitions (FinnGen only)

Control exclude: Q17_OTHER_CONGEN_MALFO

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF4
Parent code in ICD-10: Q8
Name in latin: Epidermolysis bullosa

NAME	Q17_EPIDERMOL_BULLOSA
CONTROL_EXCLUDE	Q17_OTHER_CONGEN_MALFO
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q81
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q81
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 Epidermolysis bullosa 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	489	266	222
Only index persons	416	226	190
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	22.22	27.80	15.49
Only index persons	22.99	28.57	16.35

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	53	32	21
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	27.83	35.61	15.99

-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)

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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

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

6.76

6.63

19.9

7.0

116.9

121.4

g/l

0.34

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

6.05

6.36

18.5

6.9

5.1

5.3

kpa

0.28

(3027801) Oxygen [Partial pressure] in Arterial blood

6.05

6.36

18.5

6.9

10.9

15.4

kpa

2.03

(3016502) Oxygen saturation in Arterial blood

5.67

5.58

19.9

7.1

93.0

97.2

0.53

(3019060) Gas panel - Arterial blood

8.76

4.56

20.2

7.5

—

(3008152) Bicarbonate [Moles/volume] in Arterial blood

8.08

4.37

21.7

9.7

22.8

24.6

mmol/l

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

6.14

3.69

8.0

5.9

0.6

0.8

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

6.14

3.69

8.0

5.9

1.2

—

(3014007) Fractional oxyhemoglobin in Arterial blood

6.14

3.69

8.0

5.8

89.2

95.3

—

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

6.51

3.49

27.9

11.4

—

(3000494) Fungus identified in Specimen by Culture

3.79

3.46

1.4

1.7

—

(3032080) INR in Blood by Coagulation assay

126

2.86

3.40

16.6

6.9

1.1

inr

—

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

7.34

2.95

2.5

1.4

—

(3020891) Body temperature

6.60

2.78

5.5

—

(3037467) Urinalysis macro (dipstick) panel - Urine

277

2.54

2.33

4.9

4.3

—

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

3.40

2.27

13.8

20.2

8.6

6.2

mmol/l

—

(3018405) Lactate [Moles/volume] in Arterial blood

6.00

2.26

2.8

2.4

0.9

1.1

mmol/l

—

(40768443) Skin Pathology biopsy report

4.68

2.22

1.0

1.1

—

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

2.70

2.18

1.7

2.0

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.82

2.09

3.1

1.8

—

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

135

2.24

2.08

3.2

3.9

—

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

154

2.18

1.99

12.0

7.3

35.3

37.2

g/l

0.98

147

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

2.85

1.97

1.6

1.9

—

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

105

2.26

1.96

3.9

3.3

0.0

estimate

—

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

2.77

1.88

1.9

1.8

—

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

202

2.12

1.88

3.9

3.2

0.0

estimate

—

(3023368) Bacteria identified in Blood by Culture

2.30

1.84

5.6

4.1

—

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

203

2.10

1.84

3.9

3.2

0.0

estimate

—

(3044889) 12 lead EKG panel

255

2.10

1.72

4.0

3.0

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

2.43

1.70

4.0

4.9

29.5

29.6

0.03

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

172

2.00

1.65

7.0

4.1

—

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

200

1.99

1.63

5.4

4.6

0.0

estimate

—

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

3.25

1.63

1.7

2.3

—

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

2.72

1.51

5.0

3.7

—

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

116

1.99

1.48

2.8

2.9

21.1

20.1

ng/l

0.04

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

3.34

1.47

3.8

11.4

3.3

2.8

g/l

—

(40761536) Microorganisms panel - Urine sediment

2.62

1.45

5.4

2.7

—

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

2.81

1.41

4.5

22.4

1.0

1.4

mg/l

—

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

2.14

1.39

3.1

2.3

60.8

74.2

ng/l

—

(3018095) Leukocytes [#/volume] in Urine

148

1.83

1.26

4.3

4.4

291.1

16.1

e6/l

0.47

105

(3012544) pH of Venous blood

2.18

1.20

7.8

13.1

—

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

2.65

1.18

8.4

14.6

114.6

126.4

g/l

—

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

160

1.77

1.16

21.8

10.4

1.2

mmol/l

2.30

148

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

2.05

1.13

1.6

445.0

521.8

pmol/l

0.43

(3000991) Gas panel - Venous blood

2.20

1.12

13.6

10.3

—

(3042936) Bacteria identified in Isolate by Culture

2.09

1.10

3.1

2.4

—

(3044640) Blood type and Crossmatch panel - Blood

118

1.80

1.10

3.1

2.7

—

(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma

2.22

1.07

1.6

1.4

—

(40760892) CBC W Ordered Manual Differential panel - Blood

102

1.81

1.06

4.3

4.8

—

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

1.81

1.01

4.1

3.8

—

(3017446) Testosterone [Moles/volume] in Serum or Plasma

0.00

1.01

0.0

2.1

—

13.2

—

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

1.92

1.01

7.6

13.1

5.5

5.7

kpa

—

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

0.00

1.00

0.0

1.7

—

(40761535) Cells panel - Urine sediment

2.37

0.97

2.7

3.7

—

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

1.80

0.96

5.0

2.5

—

(3033658) Prothrombin time (PT) actual/Normal

105

1.75

0.96

5.3

6.4

83.3

93.8

0.68

105

(3002256) Pathology report gross observation

2.06

0.94

1.5

1.2

—

(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction

2.01

0.92

1.8

4.8

191.4

256.0

u/l

—

(3024354) Oxygen [Partial pressure] in Venous blood

1.91

0.89

6.1

13.5

4.1

5.0

kpa

—

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

431

2.20

0.89

27.8

12.9

139.0

139.7

mmol/l

1.33

423

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

431

2.20

0.89

28.1

13.2

3.8

3.9

mmol/l

1.20

422

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

1.76

0.79

2.3

2.9

2.4

mmol/l

—

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

1.86

0.75

14.7

15.5

24.7

24.9

mmol/l

—

(3000492) Spirometry study

1.77

0.72

1.3

1.5

—

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

1.77

0.72

1.3

1.5

—

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

441

1.94

0.62

22.7

12.9

29.4

20.6

mg/l

0.86

309

(3026008) Bacteria identified in Urine by Culture

108

1.54

0.62

4.4

2.5

—

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

163

1.48

0.62

3.8

2.9

—

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

0.00

0.61

0.0

1.1

—

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

0.00

0.61

0.0

1.5

—

2.6

—

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

1.86

0.61

1.3

1.6

—

(36304419) Bacteria [Presence] in Urine

118

1.51

0.59

3.4

3.5

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.55

0.55

1.5

1.6

—

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

1.61

0.55

7.7

13.7

24.0

23.6

mmol/l

—

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

1.60

0.51

2.3

1.5

1381.0

1138.7

nmol/l

—

(40761511) CBC panel - Blood by Automated count

448

1.76

0.50

19.0

11.0

—

(3013512) EKG study

0.59

0.50

1.2

2.9

—

(3041096) Erythrocytes [Presence] in Urine by Automated

123

1.43

0.48

3.2

2.3

—

(1761868) Lipid panel - Serum or Plasma

144

1.38

0.43

2.4

2.5

—

(3015736) pH of Urine

163

1.36

0.43

4.8

3.3

—

(42870588) Differential panel, method unspecified - Blood

163

1.36

0.43

6.0

9.6

—

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

1.57

0.42

1.0

1.6

—

(3015377) Calcium [Moles/volume] in Serum or Plasma

135

1.38

0.42

3.3

3.8

2.3

mmol/l

0.42

123

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

385

1.44

0.42

3.7

3.6

1.4

1.5

mmol/l

0.44

368

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.42

0.0

1.1

—

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

0.00

0.42

0.0

1.3

—

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

0.00

0.42

0.0

1.3

—

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

0.00

0.42

0.0

1.3

—

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

1.52

0.41

11.2

5.5

—

(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma

164

1.35

0.41

3.2

3.4

69.9

73.2

nmol/l

0.17

152

(3022145) Colonoscopy Study observation

1.43

0.39

1.4

1.3

—

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

0.63

0.39

1.4

2.2

2.0

1.4

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.46

0.38

1.5

1.8

—

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

388

1.40

0.37

3.9

3.6

4.7

mmol/l

0.09

373

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

389

1.38

0.35

4.3

3.8

3.0

2.8

mmol/l

0.37

373

(40768804) Tissue Pathology biopsy report

149

1.32

0.34

2.2

1.8

—

(3009542) Hematocrit [Volume Fraction] of Blood

425

1.39

0.33

25.3

14.8

39.7

40.8

0.69

367

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

1.39

0.31

1.1

1.7

17.8

20.8

nmol/l

—

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

1.29

0.29

5.3

3.0

2.1

2.6

g/l

—

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

300

1.26

0.29

4.6

4.0

60.3

40.2

u/l

0.59

289

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

107

1.28

0.24

2.0

1.7

—

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

1.39

0.24

1.2

1.5

—

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

386

1.27

0.23

3.5

—

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

1.21

0.22

1.2

1.8

—

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

0.00

0.21

0.0

1.6

—

(3016701) Glucose [Moles/volume] in Serum or Plasma --2 hours post dose glucose

0.00

0.21

0.0

1.5

—

7.8

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.4

—

51.8

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

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

1.5

—

(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

1.5

—

34.2

—

(40766183) Gliadin peptide IgA Ab [Units/volume] in Serum by Immunoassay

0.00

0.21

0.0

1.3

—

5.7

—

(40758558) Short blood count panel - Blood

128

1.24

0.21

5.8

9.2

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.3

—

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

1.27

0.18

2.2

4.5

323.8

329.8

umol/l

—

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

1.17

0.18

1.4

2.2

379.7

348.8

nmol/l

—

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

0.78

0.16

2.1

1.6

—

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

133

1.18

0.14

1.9

2.0

—

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

124

1.18

0.13

1.6

1.5

—

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

375

1.15

0.11

12.4

9.9

86.0

93.5

ml/min/173m2

0.82

282

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

1.12

0.10

1.8

1.7

—

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

137

1.13

0.08

2.1

1.5

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

350

0.92

0.05

4.2

35.3

38.0

mmol/mol

1.90

334

(3006504) Eosinophils/100 leukocytes in Blood

227

0.95

0.01

7.1

8.5

2.3

2.9

0.78

212

(3009508) Creatinine [Moles/volume] in Urine

106

0.93

0.01

3.6

3.3

6.9

7.6

mmol/l

—

(3019069) Monocytes/100 leukocytes in Blood

226

0.95

0.00

7.7

8.8

8.7

8.3

0.43

216

(3022096) Basophils/100 leukocytes in Blood

223

0.98

0.00

6.5

8.4

0.7

0.01

208

(3002030) Lymphocytes/100 leukocytes in Blood

234

0.97

0.00

6.9

8.4

25.0

30.9

2.13

223

(3018010) Neutrophils/100 leukocytes in Blood

228

1.02

0.00

6.8

8.2

61.5

54.6

2.13

217

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

0.00

0.0

1.1

—

(4268621)

0.00

0.0

2.0

—

(40765089) Chromosome analysis panel - Blood by G-banded

0.00

0.0

1.0

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.0

2.0

—

(40768797) Stomach Pathology biopsy report

1.00

0.00

1.0

1.2

—

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

0.00

0.0

2.7

—

6.2

—

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

0.00

0.0

1.0

—

(3029715) Chromosome analysis.interphase [Interpretation] in Bone marrow by FISH Narrative

0.00

0.0

1.2

—

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

0.00

0.0

1.3

—

(40763571) Iron/Transferrin [Ratio] in Serum or Plasma

1.04

0.00

6.7

3.2

16.3

19.8

—

(3018133) Calcium [Moles/volume] in Urine

0.00

0.0

4.0

—

2.4

—

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

0.00

0.0

1.0

—

(3034426) Prothrombin time (PT)

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.0

4.3

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

0.0

1.6

—

(3002823) Mycoplasma pneumoniae IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(40761849) Varicella zoster virus IgG Ab [Units/volume] in Cerebral spinal fluid by Immunoassay

0.00

0.0

1.2

—

(3035999) Lactate [Moles/volume] in Cerebral spinal fluid

0.00

0.0

1.4

—

1.4

—

(40766800) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ T-cells [Units/volume] corrected for background in Blood

0.00

0.0

1.0

—

(3006442) Creatine [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

(3005702) Mycobacterium sp identified in Specimen by Organism specific culture

0.00

0.0

1.2

—

(3020682) Albumin/Creatinine [Ratio] in Urine

0.95

0.00

6.6

3.6

12.7

4.1

mg/mmol

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

0.0

1.0

—

(3037677) Mycoplasma pneumoniae IgM Ab [Titer] in Cerebral spinal fluid

0.00

0.0

1.0

—

(42868421) Varicella zoster virus IgM Ab [Presence] in Cerebral spinal fluid by Immunoassay

0.00

0.0

1.2

—

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

0.00

0.0

2.7

—

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

0.00

0.0

1.1

—

(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH

0.00

0.0

1.2

—

(3018993) Complement total hemolytic CH100 [Units/volume] in Serum or Plasma

0.00

0.0

1.0

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.6

—

92.4

—

(21491868) Cryoglobulin [Mass/volume] in Serum

0.00

0.0

1.0

—

(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay

0.00

0.0

1.0

—

102.5

—

(3003985) Beta hydroxybutyrate [Moles/volume] in Serum or Plasma

0.00

0.0

1.0

—

2.4

—

(3012413) Glucose [Moles/volume] in Serum or Plasma --2 hours post meal

0.00

0.0

1.0

—

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

0.94

0.00

1.0

1.4

—

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

0.00

0.0

4.7

—

3.5

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.0

1.2

—

(3027544) Mycobacterium sp identified in Sputum by Organism specific culture

0.00

0.0

3.0

—

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

0.00

0.0

2.7

—

0.9

—

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

0.00

0.0

2.9

—

18.5

—

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

0.00

0.0

1.4

—

(3044212) Herpes simplex virus 1+2 IgM Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.4

—

(21494755) Public health laboratory ask at order entry panel

0.86

0.00

1.4

—

(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma

0.00

0.0

2.6

—

394.2

—

(3015076) Soybean IgE Ab [Units/volume] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3011547) Coagulation factor VII activity actual/normal in Platelet poor plasma by Coagulation assay

0.00

0.0

1.0

—

139.6

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_EPIDERMOL_BULLOSA and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_EPIDERMOL_BULLOSA.

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: Q17_EPIDERMOL_BULLOSA – Epidermolysis bullosa

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

Epidermolysis bullosa

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