Other acantholytic disorders

L12_ACANTHOLYTIC

liver disease: A disease involving the liver.

Endpoint definition

↥

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 — L11 Cause of death: ICD-10 — L11 2 out of 7 registries used, show all original rules.	85
4. Check minimum number of events None	85
5. Include endpoints L12_KERATFOLL L12_GROVER L12_ACANTHNAS	85
6. Filter based on genotype QC (FinnGen only)	85

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	85	26	59
Unadjusted period prevalence (%)	0.02	0.01	0.03
Median age at first event (years)	70.06	64.92	72.32

-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)

↥

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
78: Matched controls
778

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

L11.1

ICD-10 Finland

Transient acantholytic dermatosis [Grover]

+∞

61.9

D05BB02

ATC

acitretin; oral

132.2

19.6

TQX10

NOMESCO Finland

Biopsy of skin and subcutaneous tissue

12.8

17.3

L11.0

ICD-10 Finland

Acquired keratosis follicularis

+∞

16.2

L30.9

ICD-10 Finland

Dermatitis, unspecified

8.3

14.4

E0000UV

ATC

5.3

10.9

189

L11.9

ICD-10 Finland

Acantholytic disorder, unspecified

+∞

10.6

D07BB04

ATC

hydrocortisone butyrate and antiseptics; topical

6.4

8.1

L82

ICD-10 Finland

Seborrhoeic keratosis

6.1

8.1

D07AC01

ATC

betamethasone; topical

3.6

6.6

183

D07AB02

ATC

hydrocortisone butyrate; topical

3.7

6.4

140

D07AD01

ATC

clobetasol; topical

4.8

6.4

D07AC13

ATC

mometasone; topical

3.6

6.3

143

XQ848

NOMESCO Finland

Dermatological photography

14.1

6.3

XQ845

NOMESCO Finland

Dermatoscopy

16.7

6.1

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(40768443) Skin Pathology biopsy report

13.14

20.27

2.0

1.1

—

(3002256) Pathology report gross observation

3.12

4.38

1.4

1.3

—

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

3.16

4.16

1.7

2.4

66.3

66.1

g/l

0.04

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

6.57

3.93

1.4

1.3

0.2

0.3

g/l

—

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

6.15

3.77

1.4

1.3

1.1

1.2

g/l

—

(40768804) Tissue Pathology biopsy report

277

2.33

3.57

3.0

2.2

—

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

313

2.34

3.57

2.3

2.2

88.7

89.5

pmol/l

0.04

182

(3004588) Protein electrophoresis panel - Serum or Plasma

3.05

3.46

1.4

2.4

—

(40760888) Immunoglobulin light chains.free panel - Serum

5.76

3.27

1.4

4.1

—

(3041423) Sjogrens syndrome-A extractable nuclear 60kD Ab [Units/volume] in Serum

10.50

3.01

1.0

—

(3041067) Sjogrens syndrome-A extractable nuclear 52kD Ab [Units/volume] in Serum

10.50

3.01

1.0

—

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

269

2.11

2.85

2.6

85.8

75.4

nmol/l

1.18

239

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

8.75

2.78

1.0

—

(3004616) Nuclear Ab [Presence] in Serum

8.75

2.78

1.2

—

(40768797) Stomach Pathology biopsy report

2.32

2.39

1.7

1.3

—

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

3.73

2.33

1.6

1.3

—

(42870588) Differential panel, method unspecified - Blood

249

1.95

2.31

9.2

5.1

—

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

3.92

2.20

1.1

1.2

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

5.23

2.10

1.6

1.9

33.6

—

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

123

2.06

2.05

5.6

6.3

1.0

mmol/l

0.13

114

(3037522) Nuclear Ab [Titer] in Serum

2.26

2.01

1.4

1.3

208.0

390.6

titre

—

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

184

1.87

1.88

2.1

1.7

1.1

1.3

mmol/l

0.59

157

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

151

1.93

1.87

5.3

1.8

0.9

1.5

mg/l

1.16

121

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

2.48

1.79

2.0

2.1

9.5

9.8

g/l

0.12

(3032080) INR in Blood by Coagulation assay

331

1.76

1.78

7.7

10.6

1.4

inr

0.17

103

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

3.08

1.76

1.6

—

(3008898) HLA-B27 [Presence]

3.32

1.69

1.0

1.3

—

(3022145) Colonoscopy Study observation

2.09

1.69

1.6

1.3

—

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

3.72

1.64

1.4

1.3

—

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

656

2.22

1.57

4.6

4.7

1.5

1.4

mmol/l

0.67

594

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

119

1.89

1.55

1.8

1.4

2.3

2.4

g/l

0.11

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

2.20

1.52

1.3

1.4

—

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

661

2.14

1.46

5.7

4.7

4.5

4.4

mmol/l

0.11

604

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

261

1.66

1.42

2.6

3.4

801.9

1572.5

ng/l

1.57

220

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

2.33

1.42

1.4

2.9

—

(40761536) Microorganisms panel - Urine sediment

2.13

1.41

12.8

3.7

—

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

664

2.10

1.39

4.6

5.2

6.0

6.1

mmol/l

0.38

595

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

282

1.63

1.36

6.1

3.5

—

(3052851) Hemolysis interference index of Serum or Plasma

2.61

1.33

2.3

4.3

—

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

2.88

1.30

1.2

1.6

—

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

2.88

1.30

1.2

1.6

—

(3018418) pH of Serum or Plasma

221

1.63

1.29

6.2

4.5

7.4

—

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

612

1.81

1.26

5.3

4.5

2.0

mu/l

0.09

546

(3049717) Cytology report of Urine Cyto stain

2.28

1.25

3.6

2.9

—

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

170

1.67

1.24

1.7

1.8

1205.6

1146.7

nmol/l

0.10

130

(40760892) CBC W Ordered Manual Differential panel - Blood

129

1.72

1.19

6.8

5.0

—

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

131

1.69

1.13

1.8

1.9

—

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

123

1.70

1.12

1.7

1.3

0.6

1.7

u/ml

—

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

717

2.07

1.10

15.6

10.9

24.5

24.3

u/l

0.05

692

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

1.79

1.09

4.7

3.7

—

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

2.22

1.08

1.7

2.0

—

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

323

1.52

1.08

5.9

3.9

—

(3037756) Immunofixation for Serum or Plasma

2.35

1.05

1.2

1.5

—

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

101

1.72

1.02

1.3

1.4

1.2

15.1

u/ml

—

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

681

1.86

1.02

23.1

16.8

27.2

27.6

mg/l

0.04

576

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

187

1.56

1.02

1.3

1.9

430.5

437.1

pmol/l

0.04

154

(3021440) Promyelocytes/100 leukocytes in Blood

1.89

0.99

3.6

4.1

0.2

0.0

—

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

638

1.69

0.97

5.2

4.2

1.2

1.3

mmol/l

1.01

572

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

684

1.82

0.96

5.3

5.4

2.6

mmol/l

0.22

622

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

1.83

0.91

3.2

2.2

316.4

391.7

nmol/l

0.73

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

1.95

0.90

1.6

1.4

3.2

1.0

g/l

—

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

2.07

0.89

1.0

1.2

—

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

167

1.52

0.86

5.6

2.3

—

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

1.81

0.85

1.4

1.5

—

(3023368) Bacteria identified in Blood by Culture

240

1.46

0.85

5.0

4.6

—

(36304419) Bacteria [Presence] in Urine

214

1.46

0.81

7.3

3.3

—

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

125

1.56

0.81

3.1

0.7

1.3

e6/l

—

(3017181) Myelocytes/100 leukocytes in Blood

1.71

0.76

3.6

3.9

0.6

0.8

—

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

1.98

0.72

10.2

2.8

2.5

1.8

mg/l

—

(3002582) Erythrocytes [#/volume] in Urine

247

1.40

0.71

7.2

3.5

130.1

322.6

e6/l

0.31

196

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

229

1.40

0.70

7.4

3.4

0.1

0.5

e6/l

2.51

173

(3026008) Bacteria identified in Urine by Culture

211

1.41

0.69

6.4

3.3

—

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

296

1.38

0.69

4.0

4.6

24.6

21.5

0.42

158

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

374

1.37

0.68

7.5

7.1

1.2

mmol/l

1.71

316

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

131

1.47

0.66

2.9

2.8

0.2

0.9

e6/l

—

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

213

1.39

0.65

3.3

3.1

0.7

0.8

ug/l

0.28

150

(3037467) Urinalysis macro (dipstick) panel - Urine

477

1.36

0.64

7.0

4.5

—

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

159

1.43

0.63

1.5

1.3

—

(3012516) Albumin [Mass/volume] in Urine

233

1.37

0.63

3.6

3.2

2652.3

71.3

mg/l

0.49

155

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

0.00

0.61

0.0

1.4

—

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

0.00

0.61

0.0

1.4

—

(3009508) Creatinine [Moles/volume] in Urine

235

1.36

0.59

3.6

3.2

6.0

7.5

mmol/l

1.27

193

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

1.51

0.57

1.7

1.8

—

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

362

1.32

0.56

2.4

2.5

—

(3018095) Leukocytes [#/volume] in Urine

275

1.33

0.56

7.6

4.0

45.4

70.4

e6/l

0.33

204

(3012544) pH of Venous blood

1.52

0.55

3.8

4.3

—

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

154

1.39

0.55

6.0

2.4

12.4

11.9

umol/l

0.12

136

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

652

1.42

0.53

6.8

6.7

41.2

41.3

mmol/mol

0.03

605

(4035726)

1.56

0.52

1.3

1.4

—

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

364

0.77

0.51

6.5

4.0

0.0

estimate

0.00

(3044640) Blood type and Crossmatch panel - Blood

232

1.31

0.49

5.4

2.4

—

(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

1.50

0.48

1.7

1.9

—

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

279

0.76

0.47

7.7

4.3

—

(40758558) Short blood count panel - Blood

186

1.32

0.47

11.2

6.9

—

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

1.43

0.47

1.7

1.8

—

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

1.50

0.44

4.4

2.1

171.1

238.5

ng/l

—

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

1.65

0.44

2.8

1.7

—

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

1.65

0.44

2.8

1.7

—

(3020682) Albumin/Creatinine [Ratio] in Urine

245

1.28

0.43

5.4

4.1

29.7

10.9

mg/mmol

0.38

161

(3000494) Fungus identified in Specimen by Culture

1.42

0.43

1.9

1.4

—

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

357

0.79

0.42

7.5

5.4

0.0

estimate

0.00

(3030692) Respiratory virus DNA+RNA [Identifier] 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

—

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

1.41

0.40

1.8

1.5

—

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

1.45

0.40

1.6

3.2

35.0

38.0

g/l

—

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

1.38

0.40

1.6

1.4

—

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

0.00

0.39

0.0

1.5

—

(3019225) pH of Specimen

1.34

0.39

2.7

4.1

—

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

1.34

0.39

1.8

1.3

—

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

363

0.81

0.36

6.2

4.0

0.0

estimate

0.00

(36660697) Celiac disease serology panel - Serum

1.39

0.35

1.3

—

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

0.64

0.35

10.2

10.1

—

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

1.33

0.34

1.2

—

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

139

1.28

0.32

6.8

2.4

2.1

2.2

g/l

0.49

123

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

1.35

0.32

1.0

1.4

—

(3044889) 12 lead EKG panel

483

1.20

0.29

4.6

4.4

—

(40761535) Cells panel - Urine sediment

1.30

0.29

3.0

3.6

—

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

1.28

0.28

1.4

1.6

1.5

1.8

—

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

1.30

0.27

5.3

7.1

1.1

1.6

mmol/l

—

(3000991) Gas panel - Venous blood

1.28

0.27

3.8

8.4

—

(3009542) Hematocrit [Volume Fraction] of Blood

567

1.20

0.26

28.5

18.7

38.7

40.0

0.41

378

(3042936) Bacteria identified in Isolate by Culture

124

1.25

0.26

2.9

1.9

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

124

1.25

0.26

8.5

2.1

31.9

29.6

0.35

119

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

652

1.21

0.24

26.3

16.2

73.0

74.6

ml/min/173m2

0.26

550

(1761868) Lipid panel - Serum or Plasma

202

1.19

0.23

3.0

3.5

—

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

1.30

0.23

1.2

1.8

—

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

1.23

0.22

1.2

1.9

—

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

390

1.15

0.21

6.4

5.3

2.3

2.2

ug/l

0.17

339

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

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.6

—

219.6

—

(44790047)

0.00

0.20

0.0

1.4

—

(44790048)

0.00

0.20

0.0

1.4

—

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

0.00

0.20

0.0

1.5

—

(44806118)

0.00

0.20

0.0

1.4

—

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

0.00

0.20

0.0

1.4

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.20

0.0

4.0

—

(44790049)

0.00

0.20

0.0

1.4

—

(3000492) Spirometry study

1.19

0.20

1.5

—

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

1.17

0.19

1.0

1.5

—

(3041096) Erythrocytes [Presence] in Urine by Automated

204

0.85

0.19

8.6

3.9

—

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

1.14

0.18

1.7

4.5

92.9

90.9

ng/l

—

(3019060) Gas panel - Arterial blood

0.76

0.17

3.0

4.1

—

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

161

0.84

0.17

2.9

3.7

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.12

0.15

3.4

1.8

—

(40761511) CBC panel - Blood by Automated count

701

1.18

0.15

22.4

16.1

—

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

320

1.10

0.12

3.2

4.2

21.7

53.0

ng/l

2.05

256

(3025941) Bacteria identified in Stool by Culture

1.17

0.10

1.2

1.3

—

(3013512) EKG study

238

1.07

0.05

3.7

4.5

—

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

208

0.95

0.02

8.3

4.1

0.0

estimate

0.00

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

492

0.99

0.00

5.1

3.6

15.4

14.9

pmol/l

0.71

430

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

0.00

0.0

1.3

—

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

0.00

0.0

1.3

—

(3016879) Cocaine [Presence] in Urine

0.00

0.0

1.3

—

(40768441) Liver Pathology biopsy report

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

120.6

—

(4268621)

0.00

0.0

2.3

—

(3016018) Differential panel - Cerebral spinal fluid

0.00

0.0

1.0

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.0

1.3

—

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

0.00

0.0

1.6

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.7

—

(3001467) Alkaline phosphatase.bone [Enzymatic activity/volume] in Serum or Plasma

0.00

0.0

1.0

—

46.4

—

(3021952) Alkaline phosphatase isoenzymes [Enzymatic activity/volume] in Serum or Plasma by Heat stability

0.00

0.0

1.0

—

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

0.00

0.0

1.6

—

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

0.90

0.00

1.3

1.6

—

(3027008) Opiates [Presence] in Urine

0.00

0.0

1.3

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.1

—

12.1

—

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

0.00

0.0

1.6

—

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

0.00

0.0

5.4

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.0

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.0

1.3

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.0

2.2

—

(3017569) Oxygen content in Arterial blood

0.00

0.0

2.2

—

(3037556) Urate [Mass/volume] in Serum or Plasma

0.00

0.0

1.6

—

(4281824)

0.00

0.0

1.0

—

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

0.00

0.0

1.6

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

0.0

1.0

—

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

0.00

0.0

5.4

—

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

0.00

0.0

1.6

—

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

0.00

0.0

2.0

—

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.7

—

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

0.00

0.0

1.0

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.0

—

(3005715) Vancomycin [Mass/volume] in Serum or Plasma

0.00

0.0

8.2

—

13.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(4010399)

0.84

0.00

1.4

—

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

0.00

0.0

1.6

—

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

0.00

0.0

2.0

—

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

0.00

0.0

2.2

—

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

0.00

0.0

4.3

—

3.5

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.7

—

110.2

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.0

—

(3045716) Anion gap in Serum or Plasma

0.00

0.0

4.2

—

8.6

—

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

0.00

0.0

1.0

—

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

0.00

0.0

4.8

—

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

0.00

0.0

1.0

—

17.3

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.6

—

(3013566) Clostridioides difficile [Presence] in Stool by Organism specific culture

0.00

0.0

1.0

—

(3013727) Leukocytes other/100 leukocytes in Blood

0.00

0.0

6.5

—

50.8

—

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

0.00

0.0

1.7

—

15.9

—

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 (R11)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints