Other and unspecified pemphigus

L12_PEMPHIGUS_NAS

pemphigus: a rare group of blistering autoimmune diseases that affect the skin and mucous membranes.

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 — L10.8, L10.9 Hospital discharge: ICD-8 — 69400\|69403 Cause of death: ICD-10 — L10.8, L10.9 Cause of death: ICD-8 — 69400\|69403 KELA reimbursements: KELA codes — ANY KELA reimbursements: ICD-10 — L10 3 out of 7 registries used, show all original rules.	115
4. Check minimum number of events None	115
5. Include endpoints None	115
6. Filter based on genotype QC (FinnGen only)	115

Control definitions (FinnGen only)

Control exclude: L12_BULLOUS

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2

NAME	L12_PEMPHIGUS_NAS
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	L10[8-9]
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	69400\|69403
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	L10[8-9]
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	69400\|69403
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB	ANY
KELA_REIMB_ICD	L10
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 and unspecified pemphigus 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	947	511	427
Only index persons	754	416	338
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.01
Only index persons	0.01	0.02	0.01
Median age at first event (years)
Whole population	62.24	64.49	59.23
Only index persons	60.83	62.22	59.12

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	115	54	61
Unadjusted period prevalence (%)	0.02	0.02	0.03
Median age at first event (years)	56.68	51.77	61.03

-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
102: Matched controls
1019

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

L10.9

ICD-10 Finland

Pemphigus, unspecified

+∞

72.9

L10.8

ICD-10 Finland

Other pemphigus

+∞

26.2

TQX10

NOMESCO Finland

Biopsy of skin and subcutaneous tissue

13.6

21.6

135

Kela drug reimbursment

Pemphigus

+∞

17.2

L10.0

ICD-10 Finland

Pemphigus vulgaris

+∞

16.0

69400

ICD-8 Finland

Pemphigus, Vulgaris, vegetans, foliaceus

+∞

13.9

L12.0

ICD-10 Finland

Bullous pemphigoid

+∞

11.7

L04AX01

ATC

azathioprine; systemic

13.4

11.1

H02AB06

ATC

prednisolone; systemic

4.2

10.6

340

J04BA02

ATC

dapsone; oral

122.0

10.6

D07BB04

ATC

hydrocortisone butyrate and antiseptics; topical

5.3

9.4

D07AD01

ATC

clobetasol; topical

5.5

9.3

D07AC01

ATC

betamethasone; topical

3.8

9.0

227

A12AX

ATC

Calcium, combinations with vitamin D and/or other drugs

3.6

8.3

214

D07AB08

ATC

desonide; topical

5.2

7.6

R21

ICD-10 Finland

Rash and other nonspecific skin eruption

10.6

7.6

L30.9

ICD-10 Finland

Dermatitis, unspecified

3.9

7.0

103

L10.2

ICD-10 Finland

Pemphigus foliaceus

+∞

6.3

L30.0

ICD-10 Finland

Nummular dermatitis

16.3

6.0

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

9.14

16.29

1.5

1.2

—

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

+∞

10.57

1.2

0.0

—

(3022096) Basophils/100 leukocytes in Blood

398

3.41

9.21

12.7

5.4

0.7

0.33

367

(3013115) Eosinophils [#/volume] in Blood

457

3.47

8.90

14.0

5.8

0.2

e9/l

0.20

403

(3006504) Eosinophils/100 leukocytes in Blood

406

3.31

8.76

12.7

5.5

2.8

2.6

0.34

375

(3019069) Monocytes/100 leukocytes in Blood

410

3.14

8.06

13.4

5.9

9.1

8.6

0.56

380

(3002030) Lymphocytes/100 leukocytes in Blood

420

3.14

8.00

13.3

5.7

25.8

27.2

0.59

388

(3006315) Basophils [#/volume] in Blood

442

3.12

7.80

13.7

5.7

0.0

e9/l

0.83

381

(3001604) Monocytes [#/volume] in Blood

442

3.00

7.35

13.9

5.7

0.6

e9/l

0.48

378

(3018010) Neutrophils/100 leukocytes in Blood

416

2.95

7.30

13.3

5.5

60.4

57.9

0.94

388

(3013650) Neutrophils [#/volume] in Blood by Automated count

530

3.17

7.22

17.1

9.8

4.5

4.1

e9/l

0.74

452

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

3.61

7.07

1.6

2.0

350.6

383.0

nmol/l

0.27

(3019198) Lymphocytes [#/volume] in Blood

453

2.88

6.83

14.0

5.6

1.8

e9/l

0.14

401

(42870588) Differential panel, method unspecified - Blood

301

2.59

5.83

12.9

5.0

—

(3004588) Protein electrophoresis panel - Serum or Plasma

3.73

5.59

1.4

2.7

—

(3017181) Myelocytes/100 leukocytes in Blood

3.06

4.36

4.0

3.6

0.6

1.2

—

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

435

2.21

4.18

8.1

6.2

1.2

mmol/l

1.79

364

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

10.54

4.06

1.4

1.0

—

(40758558) Short blood count panel - Blood

210

2.30

4.02

17.8

7.6

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.71

3.96

2.7

1.5

—

(3044941) Cell count panel - Synovial fluid

9.22

3.83

1.7

1.5

—

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

150

2.35

3.63

3.8

3.7

383.3

64.8

ng/l

0.73

116

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

389

2.06

3.56

7.6

5.5

1.2

mmol/l

1.02

357

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

3.50

3.45

1.5

2.5

—

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

2.89

3.29

3.1

3.0

128.1

164.5

ng/l

0.28

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

363

1.99

3.22

1.9

2.2

73.1

76.1

nmol/l

0.38

317

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

108

2.41

3.17

3.8

4.6

236.4

251.2

u/l

0.27

101

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

125

2.28

2.99

2.8

2.2

2.1

2.4

g/l

1.21

108

(3021788) Differential panel - Synovial fluid

6.26

2.73

2.7

1.7

—

(3021589) Normoblasts [#/volume] in Blood

416

1.86

2.70

18.9

9.5

0.0

e9/l

0.50

333

(3018095) Leukocytes [#/volume] in Urine

335

1.87

2.69

4.2

3.6

18.3

52.1

e6/l

1.46

243

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

345

1.86

2.65

4.7

3.1

—

(40760892) CBC W Ordered Manual Differential panel - Blood

201

1.98

2.64

8.9

5.5

—

(3018418) pH of Serum or Plasma

268

1.89

2.61

5.2

4.2

7.4

—

(3050238) Crystals [Presence] in Synovial fluid by Light microscopy

4.01

2.51

2.1

1.3

—

(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma

493

1.80

2.42

7.3

6.3

10.3

11.8

umol/l

0.78

461

(3023368) Bacteria identified in Blood by Culture

245

1.82

2.24

7.6

4.3

—

(3000093) Morphology [Interpretation] in Blood Narrative

5.75

2.23

1.0

—

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

3.50

2.22

2.1

1.3

—

(3037467) Urinalysis macro (dipstick) panel - Urine

621

1.80

2.22

5.9

4.3

—

(3032080) INR in Blood by Coagulation assay

360

1.75

2.22

6.5

8.7

1.2

inr

0.21

111

(3013826) Glucose [Moles/volume] in Serum or Plasma

544

1.73

2.13

7.2

4.3

6.9

6.6

mmol/l

0.45

497

(3000494) Fungus identified in Specimen by Culture

105

2.10

2.12

2.6

1.5

—

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

4.16

2.06

1.8

1.6

—

(3012516) Albumin [Mass/volume] in Urine

255

1.73

1.93

3.8

2.9

1825.4

317.9

mg/l

0.40

158

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

459

1.64

1.84

4.3

4.0

0.0

estimate

0.00

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

2.04

1.83

4.3

3.7

—

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

454

1.62

1.74

5.2

5.5

0.0

estimate

0.00

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

106

1.95

1.71

2.2

1.5

—

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

2.70

1.69

3.4

2.5

—

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

154

1.80

1.68

1.9

1.8

—

(3042936) Bacteria identified in Isolate by Culture

138

1.83

1.68

4.1

2.0

—

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

449

1.59

1.64

4.4

3.9

0.0

estimate

0.00

(3002582) Erythrocytes [#/volume] in Urine

302

1.62

1.61

4.1

3.0

130.2

287.0

e6/l

0.30

235

(3013707) Erythrocyte sedimentation rate by Westergren method

682

1.63

1.59

6.3

4.2

15.3

11.6

mm/h

1.01

626

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

109

1.89

1.58

2.2

1.6

—

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

2.39

1.58

5.6

4.4

22.0

25.0

mmol/l

—

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

2.13

1.56

11.8

5.6

1.2

1.3

mmol/l

0.19

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

2.48

1.49

1.1

1.0

—

(3020682) Albumin/Creatinine [Ratio] in Urine

272

1.59

1.47

4.8

3.7

15.3

9.6

mg/mmol

0.30

162

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

281

1.59

1.47

3.7

2965.6

1210.4

ng/l

1.16

240

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

266

1.58

1.40

4.3

2.9

0.2

0.3

e6/l

0.84

199

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

3.03

1.37

1.4

2.0

—

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

0.00

1.37

0.0

1.5

—

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

2.00

1.35

2.7

2.6

11.1

9.7

g/l

0.65

(3012544) pH of Venous blood

1.90

1.34

2.9

3.7

—

(3044889) 12 lead EKG panel

637

1.51

1.27

5.5

4.0

—

(36304419) Bacteria [Presence] in Urine

254

1.54

1.26

4.3

2.7

—

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

356

1.49

1.22

2.6

1.9

104.9

99.6

pmol/l

0.29

181

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

213

1.55

1.18

1.4

1.8

450.8

461.2

pmol/l

0.08

181

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

1.99

1.16

1.7

1.4

—

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

188

1.57

1.15

1.3

1.2

0.8

1.0

u/ml

—

(3026008) Bacteria identified in Urine by Culture

278

1.49

1.12

4.2

3.3

—

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

198

1.55

1.12

5.7

3.9

—

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

198

1.55

1.12

1.7

1.8

3.2

1.2

mg/l

0.72

156

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.02

1.11

1.5

2.2

—

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

1.92

1.07

1.5

1.9

0.7

1.3

g/l

1.61

(40760888) Immunoglobulin light chains.free panel - Serum

2.33

1.04

1.6

5.2

—

(3002385) Erythrocyte distribution width [Ratio]

755

1.48

1.04

29.6

17.6

13.8

0.02

742

(3049717) Cytology report of Urine Cyto stain

2.06

1.02

2.0

2.2

—

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

238

1.48

1.01

6.1

4.1

0.0

estimate

—

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

0.00

0.99

0.0

2.1

—

10.1

—

(3013512) EKG study

283

0.64

0.97

4.0

4.2

—

(3052851) Hemolysis interference index of Serum or Plasma

2.29

0.95

3.8

3.7

—

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

179

1.51

0.95

1.6

1.5

2.4

2.8

g/l

0.36

111

(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum

2.20

0.93

1.0

1.2

—

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

163

1.51

0.91

2.1

3.1

2.4

2.5

mmol/l

0.48

142

(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)

1.79

0.90

3.5

3.6

45.2

66.8

ml/min/173m2

—

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

245

1.42

0.87

4.3

2.8

368.4

9724.1

umol/l

1.57

206

(3019060) Gas panel - Arterial blood

1.74

0.82

5.3

3.7

—

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

1.72

0.80

20.8

6.6

—

(3050129) First trimester maternal screen panel - Serum or Plasma

0.00

0.80

0.0

1.3

—

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

116

1.55

0.80

1.2

1.4

—

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

133

0.57

0.79

1.4

1.6

—

(3009542) Hematocrit [Volume Fraction] of Blood

787

1.37

0.71

27.3

14.9

38.1

39.6

0.63

583

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

1.89

0.69

1.4

1.1

—

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

1.89

0.69

2.6

1.3

—

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

1.89

0.69

1.8

1.5

—

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

1.89

0.69

1.4

1.1

—

(3004716) Salmonella sp identified in Stool by Organism specific culture

1.67

0.68

1.4

1.3

—

(4010399)

1.67

0.67

1.5

1.4

—

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

1.82

0.67

1.4

1.2

—

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

666

1.31

0.66

3.9

14.7

14.8

pmol/l

0.08

603

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

1.56

0.66

3.2

3.7

6.1

5.6

kpa

0.72

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

1.76

0.64

1.0

1.7

—

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

803

1.34

0.64

4.9

4.7

1.7

2.0

mu/l

1.75

731

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

159

1.39

0.61

3.8

2.6

0.6

0.9

e6/l

0.48

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

0.00

0.61

0.0

1.5

—

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

1.62

0.61

2.8

1.6

—

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

0.00

0.60

0.0

1.6

—

(40768797) Stomach Pathology biopsy report

124

1.44

0.60

1.3

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.59

0.0

1.1

—

(1761868) Lipid panel - Serum or Plasma

322

0.75

0.58

3.3

3.0

—

(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

1.54

0.56

2.0

1.6

—

(40761536) Microorganisms panel - Urine sediment

1.50

0.54

4.5

3.3

—

(40761535) Cells panel - Urine sediment

1.44

0.53

7.6

4.0

—

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

1.44

0.53

8.2

6.0

22.9

24.1

mmol/l

—

(3044640) Blood type and Crossmatch panel - Blood

285

0.76

0.52

3.8

2.2

—

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

107

0.63

0.51

1.3

1.5

—

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

364

1.24

0.47

5.3

4.1

—

(3022217) INR in Platelet poor plasma by Coagulation assay

122

1.36

0.45

26.3

26.2

1.0

1.2

inr

—

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

150

1.32

0.44

1.5

1.9

—

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

534

1.22

0.43

3.1

—

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

894

1.28

0.42

25.8

14.7

25.9

24.1

mg/l

0.24

701

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.41

0.0

1.4

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.41

0.0

1.4

—

(3000991) Gas panel - Venous blood

1.45

0.41

15.2

6.4

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.40

0.0

1.5

—

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

152

1.30

0.40

1.9

1.6

—

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

201

0.76

0.40

4.5

2.2

—

(36660697) Celiac disease serology panel - Serum

1.39

0.39

1.2

—

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

0.00

0.39

0.0

1.4

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

0.00

0.39

0.0

1.4

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

0.00

0.39

0.0

1.4

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

0.00

0.39

0.0

1.4

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.31

0.38

1.3

1.5

—

(3022914) Cancer Ag 19-9 [Units/volume] in Serum or Plasma

1.45

0.36

3.5

3.2

7.4

259.2

u/ml

—

(3014218) Bicarbonate [Moles/volume] standard in Arterial blood

1.38

0.35

23.0

6.7

21.2

25.1

mmol/l

—

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

238

0.81

0.32

1.3

1.4

—

(3022145) Colonoscopy Study observation

107

0.73

0.30

1.6

1.3

—

(3025941) Bacteria identified in Stool by Culture

1.24

0.29

1.4

1.2

—

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

844

1.18

0.27

4.2

4.0

1.4

1.3

mmol/l

0.58

772

(3000492) Spirometry study

1.20

0.25

2.0

1.4

—

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

1.37

0.24

1.0

2.2

—

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

154

1.20

0.23

3.7

2.7

1.7

1.9

e6/l

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.21

0.0

1.1

—

(40768806) Pleura Pathology biopsy report

0.00

0.21

0.0

2.4

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.21

0.0

2.2

—

(40763082) Lactate dehydrogenase [Enzymatic activity/volume] in Pleural fluid by Lactate to pyruvate reaction

0.00

0.21

0.0

1.4

—

244.7

—

(3012441) Differential panel - Pleural fluid

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

1.2

—

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

1.5

—

(4268621)

0.00

0.21

0.0

1.9

—

(3023351) European house dust mite IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.1

—

3.2

—

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

0.00

0.21

0.0

1.5

—

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

289

0.87

0.20

5.4

4.4

18.0

20.6

0.59

134

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

167

1.16

0.18

1.3

20.8

26.8

iu/ml

—

(3019225) pH of Specimen

1.24

0.17

4.0

4.3

—

(3022621) pH of Urine by Test strip

1.14

0.17

3.4

2.3

—

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

875

1.13

0.17

4.5

4.4

1.4

1.5

mmol/l

1.18

808

(3019832) Treponema pallidum Ab [Presence] in Serum

0.78

0.16

1.0

1.7

—

(40761511) CBC panel - Blood by Automated count

938

1.14

0.15

19.0

13.7

—

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

103

1.18

0.14

9.9

8.3

—

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

426

1.09

0.13

4.7

4.3

—

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

848

1.11

0.13

24.6

14.0

77.2

79.3

ml/min/173m2

0.36

694

(4035726)

1.19

0.13

1.9

1.5

—

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

881

1.10

0.11

4.5

4.6

mmol/l

0.03

818

(3007461) Platelets [#/volume] in Blood

100

984

1.12

0.10

38.2

21.5

260.6

243.3

e9/l

1.13

967

(21494755) Public health laboratory ask at order entry panel

0.80

0.08

1.0

1.2

—

(3026361) Erythrocytes [#/volume] in Blood

100

986

1.11

0.08

38.2

21.5

4.3

4.5

e12/l

1.64

965

(3010813) Leukocytes [#/volume] in Blood

100

986

1.11

0.08

38.2

21.5

7.2

6.7

e9/l

1.68

966

(3024354) Oxygen [Partial pressure] in Venous blood

1.09

0.07

2.1

3.1

3.5

4.3

kpa

—

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

946

1.09

0.07

31.5

17.5

82.6

79.6

umol/l

0.41

946

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

157

1.10

0.07

1.3

26.2

8.6

u/ml

—

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

0.87

0.07

1.6

1.9

—

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

897

1.07

0.06

5.0

2.7

mmol/l

0.08

829

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

378

1.05

0.04

3.8

4.1

43.0

44.5

ng/l

0.03

270

(40768804) Tissue Pathology biopsy report

361

1.04

0.02

2.2

2.1

—

(3002256) Pathology report gross observation

117

0.93

0.02

1.3

1.2

—

(3041096) Erythrocytes [Presence] in Urine by Automated

273

1.03

0.01

3.3

3.6

—

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

215

1.03

0.00

3.3

2.9

0.8

0.7

ug/l

0.08

139

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

866

1.02

0.00

4.2

4.8

6.1

6.0

mmol/l

0.36

801

(3036428) Adenosine deaminase [Enzymatic activity/volume] in Pleural fluid

0.00

0.0

1.4

—

7.9

—

(21493195) Respiratory pathogens DNA and RNA tested for in Respiratory system specimen by NAA with probe detection

0.00

0.0

2.4

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

(36306090) Helicobacter pylori [Presence] in Tissue by Organism specific culture

0.00

0.0

1.0

—

(3005156) Respiratory syncytial virus A RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.4

—

(3000330) Specific gravity of Urine by Test strip

1.00

0.00

2.0

4.9

—

(40768441) Liver Pathology biopsy report

0.00

0.0

1.0

—

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

0.00

0.0

2.0

—

20.4

—

(3000108) Respiratory syncytial virus B RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.4

—

(3008832) Norclozapine [Moles/volume] in Serum or Plasma

0.00

0.0

16.4

—

791.6

—

(40765096) Chromosome analysis panel by Banding

0.00

0.0

1.0

—

(40757494) Bilirubin.total [Moles/volume] in Blood

0.00

0.0

1.8

—

(3043410) Blood group antigens tested for on Red Blood Cells

0.00

0.0

1.6

—

(3045788) Cell count panel - Pleural fluid

0.00

0.0

1.4

—

(3000081) cloZAPine [Moles/volume] in Serum or Plasma

0.00

0.0

18.0

—

1664.6

—

(40757349) CD3+CD4+ (T4 helper) cells/CD3+CD8+ (T8 suppressor cells) cells [# Ratio] in Blood

0.00

0.0

1.6

—

(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay

0.00

0.0

1.3

—

(3044927) Protein electrophoresis panel - Urine

0.00

0.0

1.1

—

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

240

1.00

0.00

2.0

1.6

1.5

1.3

mmol/l

0.67

195

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

0.94

0.00

1.1

1.5

—

(3038297) Parainfluenza virus 4 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.1

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.2

—

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

0.00

0.0

2.1

—

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

0.00

0.0

1.2

—

(4024509)

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3030136) 5-Hydroxyindoleacetate [Moles/volume] in Serum or Plasma

0.00

0.0

1.5

—

66.7

—

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

0.90

0.00

2.0

2.3

—

(3048469) 10-Hydroxycarbazepine [Moles/volume] in Serum or Plasma

0.00

0.0

1.5

—

52.5

—

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

0.00

0.0

1.2

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

0.96

0.00

1.2

2.9

0.9

1.1

—

(3051651) Icteric interference index of Serum or Plasma

0.00

0.0

2.9

—

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

0.88

0.00

2.1

—

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

0.00

0.0

1.2

—

(3035880) pH of Pleural fluid

0.00

0.0

1.2

—

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

0.00

0.0

2.1

—

(3047826) Mullerian inhibiting substance [Mass/volume] in Serum or Plasma

0.00

0.0

1.0

—

3.5

—

(3025634) Parainfluenza virus 1 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.1

—

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

0.00

0.0

1.2

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.0

1.1

—

Mortality – FinRegistry

↥

Association

Association between endpoint L12_PEMPHIGUS_NAS and mortality.

Females

Parameter	HR [95% CI]	p-value
L12_PEMPHIGUS_NAS	1.776 [1.31, 2.42]	< 0.001
Birth year	0.994 [0.99, 1.0]	0.151

During the follow-up period (1.1.1998 — 31.12.2019), 128 out of 395 females with L12_PEMPHIGUS_NAS died.

Males

Parameter	HR [95% CI]	p-value
L12_PEMPHIGUS_NAS	2.465 [1.66, 3.65]	< 0.001
Birth year	0.987 [0.98, 1.0]	0.015

During the follow-up period (1.1.1998 — 31.12.2019), 119 out of 329 males with L12_PEMPHIGUS_NAS died.

Mortality risk

Mortality risk for people of age

years, who have L12_PEMPHIGUS_NAS.

N-year risk	Females	Males
1	0.127%	0.394%
5	0.996%	2.721%
10	2.44%	6.725%
15	4.76%	12.756%
20	7.928%	21.022%

Relationships between endpoints

↥

Index endpoint: L12_PEMPHIGUS_NAS – Other and unspecified pemphigus

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 and unspecified pemphigus

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