Other acantholytic disorders

L12_ACANTHOLYTIC

liver disease: A disease involving the liver.

Endpoint definition

↥

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 Registry filters: Hospital discharge: ICD-10 — L11 Cause of death: ICD-10 — L11 2 out of 7 registries used, show all original rules.	95
4. Check minimum number of events None	95
5. Include endpoints L12_KERATFOLL L12_GROVER L12_ACANTHNAS	95
6. Filter based on genotype QC (FinnGen only)	92

Control definitions (FinnGen only)

Control exclude: L12_BULLOUS

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: L10-L14
Name in latin: Aliae morbositates acantholyticae

NAME	L12_ACANTHOLYTIC
CONTROL_EXCLUDE	L12_BULLOUS
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE	L12_KERATFOLL\|L12_GROVER\|L12_ACANTHNAS
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	L11
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	L11
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

↥

List of similar endpoints to Other acantholytic disorders 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

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	473	161	310
Only index persons	425	134	291
Unadjusted period prevalence (%)
Whole population	0.01	0.00	0.01
Only index persons	0.01	0.00	0.01
Median age at first event (years)
Whole population	71.40	69.04	72.62
Only index persons	70.72	67.25	72.32

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	92	33	59
Unadjusted period prevalence (%)	0.02	0.01	0.03
Median age at first event (years)	70.87	67.84	72.56

-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
95: Matched controls
950

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

L11.1

ICD-10 Finland

Transient acantholytic dermatosis [Grover]

+∞

82.8

TQX10

NOMESCO Finland

Biopsy of skin and subcutaneous tissue

10.3

26.7

L30.9

ICD-10 Finland

Dermatitis, unspecified

7.7

22.1

103

E0000UV, ,

ATC

7.1

19.5

230

L11.0

ICD-10 Finland

Acquired keratosis follicularis

+∞

17.2

D05BB02

ATC

acitretin; oral

25.5

16.0

D07BB04

ATC

hydrocortisone butyrate and antiseptics; topical

6.5

14.7

L11.9

ICD-10 Finland

Acantholytic disorder, unspecified

+∞

12.8

D07AC01

ATC

betamethasone; topical

4.5

12.0

216

D07AC13

ATC

mometasone; topical

4.2

10.8

167

D07AD01

ATC

clobetasol; topical

4.6

9.4

D07AB02

ATC

hydrocortisone butyrate; topical

3.6

8.3

173

D07AB08

ATC

desonide; topical

4.7

8.3

XQ845

NOMESCO Finland

Dermatoscopy

24.6

8.2

WXQ27

NOMESCO Finland

UVB narrow spectrum light therapy

+∞

7.4

L29.8

ICD-10 Finland

Other pruritus

43.3

6.9

XQ848

NOMESCO Finland

Dermatological photography

13.6

6.8

L82

ICD-10 Finland

Seborrhoeic keratosis

3.3

6.4

121

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(40768443) Skin Pathology biopsy report

13.50

15.25

1.8

1.1

—

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

345

2.63

4.99

2.3

2.1

91.49

89.54

pmol/l

0.12

191

(40768804) Tissue Pathology biopsy report

311

2.59

4.93

3.0

2.2

—

(3013115) Eosinophils [#/volume] in Blood

388

2.60

4.73

9.0

6.0

0.20

e9/l

0.01

333

(40768797) Stomach Pathology biopsy report

104

2.91

4.53

1.5

1.3

—

(3001604) Monocytes [#/volume] in Blood

376

2.50

4.45

9.2

5.4

0.62

0.63

e9/l

0.04

320

(3006315) Basophils [#/volume] in Blood

377

2.49

4.41

9.2

5.4

0.05

0.04

e9/l

0.63

320

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

3.02

4.13

1.6

2.3

66.56

65.71

g/l

0.22

(3002256) Pathology report gross observation

2.88

4.08

1.4

1.3

—

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

297

2.25

3.65

2.6

2.5

88.87

75.48

nmol/l

1.89

257

(40766048) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum by Immunoassay

10.55

3.54

1.0

—

(3004588) Protein electrophoresis panel - Serum or Plasma

2.97

3.53

1.4

2.3

—

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

5.40

3.46

1.4

1.2

0.24

0.25

g/l

—

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

5.11

3.33

1.4

1.3

1.10

1.22

g/l

—

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

4.34

3.19

1.5

1.2

—

(3038026) Centromere Ab [Units/volume] in Serum

7.91

3.10

1.0

—

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

132

2.34

3.08

1.7

1.4

2.42

2.41

g/l

0.01

(40760888) Immunoglobulin light chains.free panel - Serum

5.03

2.99

1.4

3.8

—

(3004616) Nuclear Ab [Presence] in Serum

7.02

2.91

1.2

1.1

—

(40760892) CBC W Ordered Manual Differential panel - Blood

355

2.03

2.86

10.0

5.8

—

(3037522) Nuclear Ab [Titer] in Serum

2.36

2.54

1.3

200.00

380.95

titre

—

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

4.06

2.52

1.1

1.2

—

(3022217) INR in Platelet poor plasma by Coagulation assay

418

1.91

2.40

19.3

16.6

1.43

1.38

inr

0.11

122

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

2.63

2.31

1.8

2.1

9.13

9.80

g/l

0.29

(3022145) Colonoscopy Study observation

2.26

2.24

1.7

1.3

—

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

134

2.06

2.22

5.3

6.0

0.98

1.03

mmol/l

0.43

124

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

143

2.02

2.16

1.6

1.3

0.57

1.51

u/ml

—

(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma

167

1.96

2.16

4.8

1.7

0.84

1.38

mg/l

1.17

137

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

201

1.89

2.12

2.1

1.7

1.18

1.29

mmol/l

0.43

170

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

5.21

2.09

1.6

1.9

33.60

—

(3043109) Cytology report of Tissue fine needle aspirate Cyto stain

4.19

2.07

1.3

—

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

3.26

2.06

1.5

—

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

734

2.25

1.77

4.6

4.7

1.48

1.41

mmol/l

0.71

659

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

301

1.71

1.74

5.7

3.4

—

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

465

1.71

2.5

3.0

43.42

55.37

u/l

0.73

434

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

739

2.18

1.65

5.7

4.8

4.47

4.45

mmol/l

0.05

671

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

681

1.95

1.64

5.4

4.5

1.98

2.04

mu/l

0.17

599

(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma

797

2.41

1.62

15.0

10.9

24.24

24.08

u/l

0.04

766

(3008898) HLA-B27 [Presence]

3.13

1.61

1.0

1.3

—

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

183

1.75

1.59

1.8

1.7

1125.67

1177.36

nmol/l

0.09

139

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

742

2.14

1.58

5.0

5.2

6.06

6.11

mmol/l

0.12

663

(3002179) Metamyelocytes/100 leukocytes in Blood

2.16

1.57

3.6

3.4

0.33

0.43

—

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

2.22

1.57

1.3

1.5

—

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

2.12

1.52

1.2

1.5

—

(3015322) Alpha 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

2.32

1.41

1.4

2.9

2.90

2.99

g/l

—

(3023465) Gamma globulin [Mass/volume] in Serum or Plasma by Electrophoresis

2.32

1.41

1.4

2.9

11.19

10.27

g/l

—

(3021440) Promyelocytes/100 leukocytes in Blood

2.06

1.41

3.5

3.9

0.17

0.04

—

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

2.15

1.31

1.4

2.7

—

(3005229) Alpha 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

2.15

1.31

1.4

2.7

7.09

7.16

g/l

—

(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

2.15

1.31

1.4

2.7

3.48

3.55

g/l

—

(3018418) pH of Serum or Plasma

246

1.60

1.30

5.9

4.4

7.39

7.40

—

(3052851) Hemolysis interference index of Serum or Plasma

2.49

1.26

2.2

4.0

—

(3049717) Cytology report of Urine Cyto stain

2.20

1.22

3.6

2.9

—

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

759

1.92

1.21

21.6

16.6

26.04

27.47

mg/l

0.17

629

(40761536) Microorganisms panel - Urine sediment

1.97

1.20

12.7

3.7

—

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

714

1.76

1.19

5.0

4.2

1.15

1.28

mmol/l

1.24

634

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

411

1.52

1.18

7.0

7.3

1.23

1.20

mmol/l

1.78

350

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

288

1.53

1.17

2.5

3.3

993.02

1606.09

ng/l

0.96

238

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

2.58

1.16

1.2

1.5

—

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

2.58

1.16

1.2

1.5

—

(3009542) Hematocrit [Volume Fraction] of Blood

825

2.25

1.14

33.5

23.9

39.48

40.04

0.34

772

(3017181) Myelocytes/100 leukocytes in Blood

1.88

1.13

3.5

3.8

0.50

0.83

—

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

765

1.85

1.09

5.4

2.55

2.61

mmol/l

0.24

690

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

358

1.49

1.09

3.7

2.5

—

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

2.01

1.06

1.6

1.5

2.88

1.01

g/l

—

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

2.14

1.05

1.7

2.1

—

(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum

2.34

1.04

1.4

1.0

—

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

142

1.61

1.04

1.8

1.9

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

722

1.68

1.03

6.9

6.6

40.76

41.26

mmol/mol

0.17

664

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

186

1.55

1.02

5.1

2.3

—

(3037467) Urinalysis macro (dipstick) panel - Urine

531

1.48

1.00

6.3

4.4

—

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

2.02

0.99

1.0

1.1

—

(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum

110

1.66

0.99

1.3

1.4

1.20

15.02

u/ml

—

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

1.69

0.94

4.7

3.7

—

(3002582) Erythrocytes [#/volume] in Urine

263

1.46

0.92

6.7

3.4

116.61

303.39

e6/l

0.33

209

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

201

1.48

0.88

1.3

1.9

425.64

442.89

pmol/l

0.12

165

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

400

1.40

0.85

2.3

2.7

—

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

176

1.49

0.84

1.5

1.3

—

(3019225) pH of Specimen

1.71

0.83

2.5

4.8

—

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

133

1.54

0.82

3.0

0.68

1.29

e6/l

—

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

1.87

0.80

2.5

1.9

—

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

1.87

0.80

2.5

1.8

—

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

0.00

0.80

0.0

1.5

—

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

0.00

0.80

0.0

1.5

—

(36304419) Bacteria [Presence] in Urine

232

1.43

0.80

6.9

3.2

—

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

223

1.43

0.80

3.2

3.1

0.70

0.77

ug/l

0.25

157

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

2.24

0.77

1.0

1.4

—

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

310

1.38

0.74

3.9

4.6

24.62

21.70

0.38

164

(3037756) Immunofixation for Serum or Plasma

2.05

0.74

1.2

1.4

—

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

245

1.39

0.73

7.0

3.3

0.21

0.46

e6/l

0.75

187

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

1.97

0.71

10.2

2.8

2.50

1.85

mg/l

—

(3044640) Blood type and Crossmatch panel - Blood

256

1.38

0.70

4.9

2.4

—

(3012516) Albumin [Mass/volume] in Urine

258

1.36

0.66

3.5

3.1

2505.04

68.09

mg/l

0.49

168

(3018095) Leukocytes [#/volume] in Urine

296

1.35

0.66

7.1

3.9

41.02

69.65

e6/l

0.45

219

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

140

1.45

0.65

2.8

0.22

0.98

e6/l

—

(3023368) Bacteria identified in Blood by Culture

259

1.36

0.65

4.9

4.6

—

(3000494) Fungus identified in Specimen by Culture

1.52

0.63

1.8

1.4

—

(36660697) Celiac disease serology panel - Serum

1.65

0.63

1.3

—

(3009508) Creatinine [Moles/volume] in Urine

260

1.35

0.63

3.5

3.1

5.88

7.51

mmol/l

1.57

207

(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

1.59

0.61

1.6

1.9

—

(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.61

0.0

1.5

—

(3026008) Bacteria identified in Urine by Culture

243

1.34

0.60

6.0

3.2

—

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

1.57

0.59

1.5

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)

726

1.42

0.58

24.4

16.1

72.90

75.20

ml/min/173m2

0.45

602

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

309

0.74

0.58

7.2

4.1

—

(3011960) Natriuretic peptide B [Mass/volume] in Serum or Plasma

1.58

0.57

4.1

2.0

158.44

233.26

ng/l

—

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

400

0.77

0.55

6.0

3.9

0.00

estimate

-0.00

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

163

1.37

0.54

5.8

2.3

12.22

11.79

umol/l

0.11

144

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

146

1.38

0.52

6.2

2.4

2.17

2.24

g/l

0.21

129

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

393

0.79

0.46

7.0

5.3

0.00

estimate

-0.00

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

1.43

0.46

1.1

1.2

—

(40758558) Short blood count panel - Blood

206

1.29

0.44

10.5

6.8

—

(3020682) Albumin/Creatinine [Ratio] in Urine

273

1.26

0.43

5.1

3.8

27.60

10.40

mg/mmol

0.38

172

(40763470) Parainfluenza virus 4 RNA [Presence] in Isolate by NAA with probe detection

0.00

0.41

0.0

1.3

—

(40763324) Parainfluenza virus 1 RNA [Presence] in Isolate by NAA with probe detection

0.00

0.41

0.0

1.3

—

(36032269) Testosterone Free [Moles/volume] in Serum or Plasma by calculation

0.00

0.41

0.0

1.5

—

213.60

—

(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.41

0.0

1.5

—

(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection

0.00

0.41

0.0

1.4

—

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

0.00

0.41

0.0

1.5

—

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

0.00

0.41

0.0

1.4

—

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

0.00

0.41

0.0

1.5

—

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

0.00

0.41

0.0

1.4

—

(3045414) Leukocytes [Presence] in Urine

1.50

0.41

1.6

1.9

—

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

1.36

0.39

1.8

4.2

95.56

88.51

ng/l

—

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

397

0.81

0.39

5.9

3.9

0.00

estimate

-0.00

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

178

0.75

0.39

2.9

3.6

—

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

1.30

0.37

1.3

1.5

1.51

1.79

—

(40761535) Cells panel - Urine sediment

1.30

0.37

2.8

3.4

—

(3015736) pH of Urine

303

0.80

0.37

3.8

3.7

—

6.00

—

(4035726) Immunohistochemistry procedure

1.41

0.36

1.3

1.4

—

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

100

1.35

0.36

1.7

1.8

—

(3013512) EKG study

260

1.22

0.35

3.4

4.6

—

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

105

0.74

0.31

8.1

9.3

—

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

1.35

0.29

1.7

1.4

—

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

104

1.29

0.28

1.7

1.8

—

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

1.30

0.28

1.7

1.6

—

(3019060) Gas panel - Arterial blood

0.70

0.27

3.0

4.1

—

(40761511) CBC panel - Blood by Automated count

781

1.25

0.26

21.5

16.0

—

(3028286) Albumin [Mass/volume] in Serum or Plasma by Electrophoresis

1.33

0.23

1.6

3.0

34.96

37.81

g/l

—

(3044889) 12 lead EKG panel

538

1.15

0.22

4.5

4.4

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.23

0.22

1.0

1.2

—

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

1.23

0.22

1.2

1.8

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.27

0.22

3.0

1.8

—

(3042936) Bacteria identified in Isolate by Culture

136

1.21

0.22

2.8

1.9

—

(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.2

—

(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.6

—

(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.5

—

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

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

410

1.14

0.20

6.1

5.2

2.28

2.15

ug/l

0.17

357

(3025941) Bacteria identified in Stool by Culture

1.21

0.20

1.2

1.3

—

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

128

1.20

0.19

4.4

6.5

103.67

103.94

mmol/l

0.06

128

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

1.22

0.18

1.4

1.5

—

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

1.18

0.18

1.0

1.5

—

(3041096) Erythrocytes [Presence] in Urine by Automated

224

0.86

0.17

7.9

3.8

—

(1761868) Lipid panel - Serum or Plasma

226

1.14

0.17

2.8

3.5

—

(3000991) Gas panel - Venous blood

1.19

0.16

3.8

8.1

—

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

546

1.11

0.15

4.8

3.7

15.53

14.87

pmol/l

0.98

477

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

1.14

0.10

1.2

1.9

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

136

1.12

0.09

8.5

2.1

31.87

29.56

0.35

131

(3000492) Spirometry study

1.04

0.08

1.5

—

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

229

0.95

0.03

7.7

4.0

0.00

estimate

-0.00

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

351

1.04

0.03

3.1

4.2

20.91

50.52

ng/l

2.15

280

(3020287) Protein C actual/normal in Platelet poor plasma by Coagulation assay

0.00

0.0

1.6

—

108.14

—

(3045156) Carbon dioxide [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

0.0

5.4

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.6

—

(40764127) Haemophilus influenzae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.6

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.5

—

(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3016879) Cocaine [Presence] in Urine

0.00

0.0

1.3

—

(3027008) Opiates [Presence] in Urine

0.00

0.0

1.3

—

(3032699) Streptococcus pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.7

—

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

0.00

0.0

1.5

—

(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.3

—

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

0.00

0.0

1.4

—

97.20

—

(3022803) Oxygen [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

0.0

5.4

—

(1001509) Gas and Carbon monoxide and Electrolytes panel - Arterial blood

0.00

0.0

2.0

—

(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma

0.00

0.0

2.0

—

0.99

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.0

1.3

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.0

1.3

—

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

0.00

0.0

1.5

—

(3023601) Vancomycin resistant enterococcus [Presence] in Specimen by Organism specific culture

0.00

0.0

1.4

—

(3037875) Bordetella parapertussis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.6

—

(3052649) Adenosine deaminase [Enzymatic activity/volume] in Serum or Plasma

0.00

0.0

2.1

—

12.14

—

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

0.00

0.0

1.5

—

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

0.00

0.0

4.6

—

222.53

—

(46235689) Lupus anticoagulant aPTT, dRVVT and PT screening panel W Reflex

0.00

0.0

2.3

—

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

0.00

0.0

4.8

—

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

0.00

0.0

1.0

—

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

0.88

0.00

1.3

1.6

—

(3009595) Pneumocystis jiroveci DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.6

—

(3017569) Oxygen content in Arterial blood

0.00

0.0

2.0

—

(3011544) Albumin [Mass/volume] in Pleural fluid

0.00

0.0

1.0

—

17.32

—

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

0.00

0.0

1.7

—

15.87

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3016436) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma

0.00

0.0

7.6

—

228.80

—

(1001926) Buprenorphine [Presence] in Urine by Screen method

0.00

0.0

1.3

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.0

1.3

—

(3044242) Glucose [Moles/volume] in Arterial blood

0.00

0.0

1.7

—

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

0.00

-0.00

0.0

1.0

—

(3051593) INR in Capillary blood by Coagulation assay

0.00

-0.00

0.0

11.7

—

(4281824) Cell count and differential, peritoneal fluid

0.00

-0.00

0.0

1.0

—

(3026389) Candida sp identified in Specimen by Organism specific culture

0.00

-0.00

0.0

1.2

—

(4200892) Spirometry reversibility

0.92

-0.00

1.3

1.4

—

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

0.00

-0.00

0.0

2.0

—

(40768441) Liver Pathology biopsy report

0.00

-0.00

0.0

1.0

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

(3050898) Methicillin resistant Staphylococcus aureus [Presence] in Genital specimen by Organism specific culture

0.00

-0.00

0.0

2.0

—

(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.3

—

(3036603) Volume of Urine

0.00

-0.00

0.0

1.3

—

1731.67

—

(3016018) Differential panel - Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

4.3

—

3.48

—

(3017315) Amylase [Enzymatic activity/volume] in Urine

0.00

-0.00

0.0

1.0

—

120.83

—

(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination

0.00

-0.00

0.0

2.2

—

(3013727) Leukocytes other/100 leukocytes in Blood

0.00

-0.00

0.0

6.5

—

50.83

—

(3011288) Drugs identified in Urine by Screen method

0.00

-0.00

0.0

2.2

—

(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.3

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

-0.00

0.0

1.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint L12_ACANTHOLYTIC and mortality.

Females

No data

Males

Parameter	HR [95% CI]	p-value
L12_ACANTHOLYTIC	1.27 [0.84, 1.93]	0.261
Birth year	0.987 [0.98, 1.0]	0.007

During the follow-up period (1.1.1998 — 31.12.2019), 67 out of 245 males with L12_ACANTHOLYTIC died.

Mortality risk

Mortality risk for people of age

years, who have L12_ACANTHOLYTIC.

N-year risk	Females	Males
1	No data	0.234%
5	No data	1.37%
10	No data	3.526%
15	No data	6.809%
20	No data	11.671%

Relationships between endpoints

↥

Index endpoint: L12_ACANTHOLYTIC – Other acantholytic disorders

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

Other acantholytic disorders

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