Cicatricial pemphigoid

L12_PEMPHIGOID_CICA

mucous membrane pemphigoid: Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane.

Suggest a new description

Endpoint definition

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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 — L12.1 Cause of death: ICD-10 — L12.1 2 out of 7 registries used, show all original rules.	72
4. Check minimum number of events None	72
5. Include endpoints None	72
6. Filter based on genotype QC (FinnGen only)	72

Control definitions (FinnGen only)

Control exclude: L12_BULLOUS

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: L12
Name in latin: Pemphigoides cicatricalis

NAME	L12_PEMPHIGOID_CICA
CONTROL_EXCLUDE	L12_BULLOUS
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	L121
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	L121
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

↥

List of similar endpoints to Cicatricial pemphigoid 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	410	265	143
Only index persons	375	247	128
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.00
Only index persons	0.01	0.01	0.00
Median age at first event (years)
Whole population	68.93	68.40	69.73
Only index persons	67.68	66.93	69.13

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	72	52	20
Unadjusted period prevalence (%)	0.02	0.02	0.01
Median age at first event (years)	64.51	62.31	70.22

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

No data

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS

↥

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
72: Matched controls
720

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

L12.1

ICD-10 Finland

Cicatricial pemphigoid

+∞

103.5

L12.0

ICD-10 Finland

Bullous pemphigoid

+∞

43.1

D07AD01

ATC

clobetasol; topical

12.5

26.8

ECA20

NOMESCO Finland

Biopsy of gingiva

117.5

23.3

J04BA02

ATC

dapsone; oral

290.8

21.8

TQX10

NOMESCO Finland

Biopsy of skin and subcutaneous tissue

10.9

20.8

L04AX01

ATC

azathioprine; systemic

44.2

18.3

L12.9

ICD-10 Finland

Pemphigoid, unspecified

+∞

16.2

D07AC01

ATC

betamethasone; topical

6.7

14.2

173

L12.8

ICD-10 Finland

Other pemphigoid

+∞

14.0

H02AB06

ATC

prednisolone; systemic

8.5

13.1

267

SBB00

NOMESCO Finland

Clinical photography of mouth and teeth

24.2

12.3

135

Kela drug reimbursment

Pemphigus

+∞

10.7

SBA00

NOMESCO Finland

Microbiological examinations

19.4

8.9

K13.79

ICD-10 Finland

Change in the oral mucosa UNS

19.4

8.9

EKA10

NOMESCO Finland

iopsy of buccal mucosa

14.1

7.4

M05BA04

ATC

alendronic acid; oral

5.0

6.5

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(40760848) Basement membrane zone BP180 Ab [Units/volume] in Serum by Immunoassay

78.82

26.77

2.4

1.3

20.88

—

u/ml

—

(40760892) CBC W Ordered Manual Differential panel - Blood

263

5.21

9.32

11.8

5.5

—

(3037522) Nuclear Ab [Titer] in Serum

4.79

8.28

1.2

1.4

370.00

404.71

titre

—

(42870298) TPMT gene c.238G>C+460G>A+719A>G [Identifier] in Blood or Tissue by Molecular genetics method Narrative

+∞

7.41

1.0

0.0

—

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

16.85

6.08

1.8

1.0

—

(3021589) Normoblasts [#/volume] in Blood

263

3.07

4.99

12.5

9.7

0.00

e9/l

0.50

212

(3022096) Basophils/100 leukocytes in Blood

262

2.91

4.59

12.0

5.1

0.80

0.63

1.43

239

(3002030) Lymphocytes/100 leukocytes in Blood

273

2.90

4.49

12.3

5.4

30.53

27.80

0.74

252

(40768443) Skin Pathology biopsy report

5.54

4.42

1.2

1.4

—

(3004588) Protein electrophoresis panel - Serum or Plasma

3.90

4.30

1.6

3.7

—

(3006504) Eosinophils/100 leukocytes in Blood

269

2.79

4.26

12.2

5.2

3.04

2.63

0.60

248

(3019069) Monocytes/100 leukocytes in Blood

272

2.75

4.12

12.6

5.5

9.17

8.19

1.52

251

(3013707) Erythrocyte sedimentation rate by Westergren method

442

3.49

3.83

5.0

3.9

16.82

13.84

mm/h

0.60

395

(3018010) Neutrophils/100 leukocytes in Blood

270

2.62

3.80

12.0

5.2

55.42

57.65

0.51

250

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

154

2.63

3.73

1.8

1.6

17.04

23.28

nmol/l

1.32

123

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

299

2.49

3.37

4.9

4.1

0.00

estimate

-0.00

(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma

460

3.13

3.21

8.1

7.4

71.23

79.37

u/l

1.86

427

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

304

2.42

3.18

4.9

4.1

0.00

estimate

—

(3045424) Erythrocytes [Presence] in Urine

8.05

3.11

1.3

1.5

—

(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis

4.74

3.11

1.2

3.3

0.00

g/l

—

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

167

2.37

3.04

5.7

4.0

0.00

estimate

-0.00

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

4.13

3.01

1.3

2.8

—

(3020961) Endomysium IgA Ab [Titer] in Serum

4.32

2.88

1.0

—

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

8.83

2.79

1.6

1.7

2.85

4.56

e9/l

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

8.83

2.79

1.6

4.2

49.40

55.17

—

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

259

2.22

2.77

2.5

2.0

92.02

99.52

pmol/l

0.46

126

(3000494) Fungus identified in Specimen by Culture

2.70

2.72

1.4

—

(40758558) Short blood count panel - Blood

167

2.23

2.65

15.2

6.3

—

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

120

2.35

2.64

1.6

1.2

1.18

1.29

u/ml

—

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

300

2.20

2.64

6.1

5.6

0.00

estimate

-0.00

(3037467) Urinalysis macro (dipstick) panel - Urine

422

2.47

2.63

5.3

4.5

—

(40768804) Tissue Pathology biopsy report

246

2.15

2.58

2.6

2.3

—

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

4.72

2.54

1.7

1.3

—

(3015736) pH of Urine

241

2.10

2.44

5.4

3.9

—

5.98

—

(3018418) pH of Serum or Plasma

191

2.09

2.35

2.8

4.6

7.38

7.40

—

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

4.19

2.31

2.1

1.2

1.04

1.18

g/l

—

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

273

2.05

2.28

5.0

4.0

34.67

35.33

g/l

0.28

259

(3044889) 12 lead EKG panel

414

2.22

2.23

3.7

3.9

—

(3045414) Leukocytes [Presence] in Urine

3.96

2.21

1.4

2.1

—

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

286

2.01

2.16

4.5

5.9

1.22

mmol/l

0.10

258

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

2.32

2.04

12.6

8.8

—

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

585

3.09

2.03

4.8

5.3

2.81

2.70

mmol/l

0.33

526

(40761535) Cells panel - Urine sediment

2.57

2.00

6.6

3.0

—

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

137

2.00

1.84

6.6

3.9

—

(3001122) Ferritin [Mass/volume] in Serum or Plasma

260

1.87

1.82

2.6

2.5

240.62

112.90

ug/l

1.09

234

(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma

4.05

1.74

1.4

1.2

—

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

310

1.85

1.74

4.5

6.4

1.22

mmol/l

0.11

265

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

275

1.81

1.65

2.5

2.2

76.52

75.43

nmol/l

0.11

235

(40760888) Immunoglobulin light chains.free panel - Serum

3.75

1.64

1.0

10.4

—

(3026008) Bacteria identified in Urine by Culture

204

1.81

1.59

2.5

3.4

—

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

573

2.38

1.55

4.4

4.8

4.80

4.65

mmol/l

0.51

521

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

225

1.76

1.50

3.4

3.2

2.41

2.36

mmol/l

1.00

198

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

2.05

1.49

3.3

4.3

1.01

1.08

mmol/l

0.45

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

443

1.88

1.48

4.8

4.0

14.93

14.95

pmol/l

0.02

397

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

371

1.77

1.45

3.6

2.8

47.68

46.15

u/l

0.06

344

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

554

2.10

1.42

3.8

4.2

1.24

1.23

mmol/l

0.03

495

(40761536) Microorganisms panel - Urine sediment

2.31

1.41

2.4

3.7

—

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

238

1.71

1.39

5.7

4.1

—

(3031040) Bacteria [#/volume] in Urine by Automated count

416

1.77

1.36

5.5

4.9

—

949.67

—

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

568

2.14

1.34

4.3

4.8

1.61

1.54

mmol/l

0.64

509

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

2.63

1.33

1.8

1.6

—

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

111

1.83

1.27

1.9

1.3

3.69

2.32

g/l

0.94

(40768797) Stomach Pathology biopsy report

1.91

1.27

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

2.30

1.26

1.5

1.8

—

(4200892) Spirometry reversibility

2.24

1.23

1.4

1.3

—

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

2.42

1.21

2.0

1.7

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

2.61

1.17

1.0

1.3

—

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

537

1.89

1.11

5.8

4.9

1.83

1.94

mu/l

0.25

475

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

550

1.92

1.08

20.6

15.3

73.45

75.49

ml/min/173m2

0.31

452

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

223

1.59

1.07

3.0

—

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

1.95

1.05

2.6

3.7

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

556

1.83

0.95

7.1

6.1

40.37

40.34

mmol/mol

0.01

513

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

1.79

0.84

1.3

1.6

—

(40768793) Breast Pathology biopsy report

0.00

0.79

0.0

1.3

—

(3022313) Gas panel - Capillary blood

2.16

0.76

7.0

3.8

—

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

105

1.54

0.67

2.1

1.3

—

(3022217) INR in Platelet poor plasma by Coagulation assay

303

1.38

0.62

23.0

14.2

1.20

1.29

inr

—

(3012516) Albumin [Mass/volume] in Urine

180

1.41

0.60

4.9

3.0

66.27

41.68

mg/l

0.26

112

(4035726) Immunohistochemistry procedure

1.54

0.56

1.3

1.4

—

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

184

1.37

0.52

2.1

2.3

49.44

81.85

u/l

0.71

174

(3002256) Pathology report gross observation

1.55

0.50

1.3

1.2

—

(3020682) Albumin/Creatinine [Ratio] in Urine

195

1.35

0.49

5.8

3.6

10.91

7.88

mg/mmol

0.17

117

(36660697) Celiac disease serology panel - Serum

1.54

0.49

1.6

1.2

—

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

104

1.43

0.47

1.3

23.32

45.70

iu/ml

—

(3012544) pH of Venous blood

1.48

0.44

1.9

3.9

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

1.60

0.43

4.6

2.6

0.96

0.67

—

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

0.00

0.41

0.0

1.5

—

(3006184) Hemoglobin [Mass/volume] in Capillary blood

0.00

0.41

0.0

2.1

—

127.73

—

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

0.00

0.40

0.0

3.4

—

53.44

—

(3009343) pH of Capillary blood

1.46

0.40

8.8

3.3

—

7.44

—

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

1.39

0.40

1.7

—

(3051387) C reactive protein [Mass/volume] in Capillary blood

0.00

0.39

0.0

4.4

—

35.15

—

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

100

1.37

0.37

1.1

1.3

1.86

10.55

u/ml

—

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

100

1.37

0.37

2.1

1.8

—

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

1.33

0.34

2.3

1.1

—

(3018095) Leukocytes [#/volume] in Urine

225

1.24

0.32

3.2

3.9

53.22

112.48

e6/l

0.58

152

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

324

1.22

0.31

1.9

2.8

—

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

1.35

0.29

1.3

1.5

—

(3019225) pH of Specimen

1.30

0.29

7.4

3.8

—

(3041096) Erythrocytes [Presence] in Urine by Automated

170

1.24

0.28

3.1

3.7

—

(3013512) EKG study

200

1.22

0.27

5.1

4.3

—

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

1.30

0.26

2.3

2.6

1.00

0.85

e6/l

—

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

124

1.26

0.26

2.1

1.6

982.78

1172.01

nmol/l

—

(3025941) Bacteria identified in Stool by Culture

1.38

0.24

1.0

1.2

—

(21494755) Public health laboratory ask at order entry panel

1.38

0.24

1.8

1.4

—

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

1.30

0.23

1.4

1.3

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.27

0.23

1.0

1.4

—

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

1.29

0.22

1.2

1.4

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

1.3

—

128.80

—

(3035637) Corticotropin [Mass/volume] in Plasma

0.00

0.21

0.0

1.8

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.21

0.0

1.2

—

(3028271) Lactate [Moles/volume] in Capillary blood

0.00

0.21

0.0

2.6

—

1.49

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

4.7

—

137.06

—

(3021901) Oxygen saturation in Capillary blood

0.00

0.21

0.0

2.0

—

(3009340) Metanephrine [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

1.5

—

(40767503) Oxygen content in Capillary blood by calculation

0.00

0.21

0.0

2.7

—

15.87

—

(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing

0.00

0.20

0.0

1.9

—

(3028626) Oxygen [Partial pressure] in Capillary blood

0.00

0.20

0.0

1.9

—

8.47

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.18

0.18

1.9

1.5

—

(1761868) Lipid panel - Serum or Plasma

178

1.17

0.17

3.6

3.2

—

(3026782) Osmolality of Urine

130

0.82

0.17

2.3

3.1

482.91

550.49

mosm/kgh2o

0.66

109

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

277

1.14

0.16

2.0

2.4

—

(3022145) Colonoscopy Study observation

1.13

0.16

1.1

1.2

—

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

172

1.14

0.13

2.8

3.1

0.64

0.53

e6/l

0.08

128

(3000492) Spirometry study

1.17

0.10

1.6

1.2

—

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

1.12

0.09

1.3

1.4

—

(3002582) Erythrocytes [#/volume] in Urine

194

0.90

0.08

2.8

3.2

89.95

70.02

e6/l

0.11

146

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

1.11

0.08

1.4

1.5

—

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

139

1.10

0.06

1.9

2.4

—

(3042936) Bacteria identified in Isolate by Culture

1.10

0.03

1.6

1.7

—

(3044640) Blood type and Crossmatch panel - Blood

197

0.95

0.01

2.2

2.3

—

(36304419) Bacteria [Presence] in Urine

167

1.02

0.00

2.8

3.0

—

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

145

0.96

0.00

1.4

1.3

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.0

1.3

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.0

—

(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma

0.00

0.0

1.8

—

13.47

—

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

0.00

0.0

1.4

—

(3045788) Cell count panel - Pleural fluid

0.00

0.0

1.5

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.0

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.0

1.3

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.0

5.5

—

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

0.00

0.0

1.1

—

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

0.00

0.0

3.0

—

(40762485) Glomerular basement membrane Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.2

—

(3016417) Amylase.pancreatic [Enzymatic activity/volume] in Serum or Plasma

1.02

0.00

3.0

3.3

23.33

31.00

u/l

—

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

0.00

0.0

1.0

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.0

3.0

—

(3017817) Protein [Mass] in Urine collected for unspecified duration

0.00

0.0

4.6

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.0

2.7

—

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

0.00

0.0

1.3

—

46.17

—

(3011391) Calcitriol [Moles/volume] in Serum or Plasma

0.00

0.0

1.5

—

(3019473) Protein [Mass/volume] in Cerebral spinal fluid

0.00

0.0

1.3

—

355.44

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.9

—

(3001788) Aldosterone [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

251.00

—

(3044941) Cell count panel - Synovial fluid

0.00

-0.00

0.0

1.9

—

(3045716) Anion gap in Serum or Plasma

0.00

-0.00

0.0

2.2

—

5.78

—

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

0.00

-0.00

0.0

1.1

—

(3016879) Cocaine [Presence] in Urine

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

(3023368) Bacteria identified in Blood by Culture

190

1.00

-0.00

5.3

3.5

—

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

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.0

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

-0.00

0.0

2.8

—

88.20

—

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

1.00

-0.00

1.9

1.8

—

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

0.00

-0.00

0.0

1.4

—

0.93

—

(3020013) Alkaline phosphatase.intestinal [Enzymatic activity/volume] in Serum or Plasma

0.00

-0.00

0.0

1.8

—

3.40

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.0

—

(3011288) Drugs identified in Urine by Screen method

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.4

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

-0.00

0.0

2.0

—

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.3

—

107.00

—

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

0.00

-0.00

0.0

1.5

—

(3028300) Cannabinoids [Presence] in Urine

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

2.0

—

(3040151) Glucose [Moles/volume] in Capillary blood

0.00

-0.00

0.0

23.6

—

6.41

—

(3036535) Thyroglobulin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

4.6

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.6

—

(3009991) Angiotensin converting enzyme [Enzymatic activity/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

0.94

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.1

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

(21494890) Protein electrophoresis panel - 24 hour Urine

0.00

-0.00

0.0

5.3

—

(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

(3027008) Opiates [Presence] in Urine

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.1

—

(3047189) Immunofixation for 24 hour Urine

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

3.9

—

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

0.00

-0.00

0.0

1.1

—

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.6

—

(3006270) Folate [Moles/volume] in Blood

0.00

-0.00

0.0

1.1

—

402.43

—

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

0.00

-0.00

0.0

1.8

—

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

0.96

-0.00

1.4

1.3

—

(3021788) Differential panel - Synovial fluid

0.00

-0.00

0.0

1.8

—

(40768795) Lymph node Pathology biopsy report

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.1

—

Mortality – FinRegistry

↥

Association

Association between endpoint L12_PEMPHIGOID_CICA and mortality.

Females

Parameter	HR [95% CI]	p-value
L12_PEMPHIGOID_CICA	1.164 [0.85, 1.6]	0.353
Birth year	0.997 [0.99, 1.01]	0.51

During the follow-up period (1.1.1998 — 31.12.2019), 67 out of 250 females with L12_PEMPHIGOID_CICA died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have L12_PEMPHIGOID_CICA.

N-year risk	Females	Males
1	0.123%	No data
5	0.767%	No data
10	1.93%	No data
15	3.849%	No data
20	6.67%	No data

Relationships between endpoints

↥

Index endpoint: L12_PEMPHIGOID_CICA – Cicatricial pemphigoid

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

Cicatricial pemphigoid

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