Other and unspecified pemphigus

L12_PEMPHIGUS_NAS

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

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	557745
1. Apply sex-specific rule None	557745
2. Check conditions None	557745
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.	131
4. Check minimum number of events None	131
5. Include endpoints None	131
6. Filter based on genotype QC (FinnGen only)	114

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	114	53	61
Unadjusted period prevalence (%)	0.02	0.02	0.03
Median age at first event (years)	58.08	53.54	62.02

-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
122: Matched controls
1220

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

L10.9

ICD-10 Finland

Pemphigus, unspecified

+∞

90.1

TQX10

NOMESCO Finland

Biopsy of skin and subcutaneous tissue

12.0

38.9

L10.8

ICD-10 Finland

Other pemphigus

+∞

35.1

D07BB04

ATC

hydrocortisone butyrate and antiseptics; topical

7.3

21.9

D07AD01

ATC

clobetasol; topical

6.4

20.6

106

135

Kela drug reimbursment

Pemphigus

+∞

19.3

L12.0

ICD-10 Finland

Bullous pemphigoid

+∞

18.2

L10.0

ICD-10 Finland

Pemphigus vulgaris

209.1

18.0

L04AX01

ATC

azathioprine; systemic

15.4

14.1

J04BA02

ATC

dapsone; oral

+∞

13.8

69400

ICD-8 Finland

Pemphigus, Vulgaris, vegetans, foliaceus

+∞

13.8

D07AC01

ATC

betamethasone; topical

4.0

13.2

297

L30.9

ICD-10 Finland

Dermatitis, unspecified

4.3

13.0

150

D07AB08

ATC

desonide; topical

5.1

12.3

H02AB06

ATC

prednisolone; systemic

4.1

12.1

439

A12AX

ATC

Calcium, combinations with vitamin D and/or other drugs

3.7

11.5

289

L10.2

ICD-10 Finland

Pemphigus foliaceus

+∞

10.6

L04AX03

ATC

methotrexate; systemic

4.8

10.1

D07AC13

ATC

mometasone; topical

3.5

9.8

198

TQW80

NOMESCO Finland

Local dermatologic skincare

13.0

8.8

SBA00

NOMESCO Finland

Microbiological examinations

17.1

7.4

L12.9

ICD-10 Finland

Pemphigoid, unspecified

+∞

7.4

L12.8

ICD-10 Finland

Other pemphigoid

+∞

7.4

Q82.80

ICD-10 Finland

Benign familial pemphigus [Hailey-Hailey]

+∞

7.4

R21

ICD-10 Finland

Rash and other nonspecific skin eruption

7.5

7.1

A41.9

ICD-10 Finland

Sepsis, unspecified

9.1

7.0

K13.79

ICD-10 Finland

Change in the oral mucosa UNS

11.9

7.0

R50.9

ICD-10 Finland

Fever, unspecified

3.2

6.4

113

XQ848

NOMESCO Finland

Dermatological photography

9.4

6.2

S97

ICPC

Chronic ulcer skin

4.0

6.0

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

82.08

28.52

1.8

1.0

18.00

—

u/ml

—

(40768443) Skin Pathology biopsy report

8.24

16.85

1.5

1.2

—

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

+∞

10.56

1.2

0.0

—

(3013115) Eosinophils [#/volume] in Blood

549

3.44

8.63

14.8

6.3

0.20

0.19

e9/l

0.20

474

(3006315) Basophils [#/volume] in Blood

532

3.35

8.52

14.3

6.2

0.05

0.04

e9/l

0.72

447

(3001604) Monocytes [#/volume] in Blood

531

3.23

8.12

14.4

6.2

0.60

0.58

e9/l

0.28

447

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

607

3.39

7.82

17.9

10.3

4.37

4.12

e9/l

0.47

514

(3019198) Lymphocytes [#/volume] in Blood

542

3.11

7.62

14.5

6.2

1.81

1.78

e9/l

0.12

474

(3007853) Bacteria identified in Skin by Aerobe culture

111

3.26

6.62

2.7

1.6

—

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

109

3.18

6.21

1.9

2.2

355.52

397.65

nmol/l

0.43

101

(3004588) Protein electrophoresis panel - Serum or Plasma

3.55

6.15

1.4

2.7

—

(42870588) Differential panel, method unspecified - Blood

356

2.43

5.45

13.6

5.4

—

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

157

2.51

4.47

3.2

2.6

21.11

21.81

0.10

147

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

525

2.19

4.17

9.5

6.8

1.18

1.21

mmol/l

2.14

453

(3000494) Fungus identified in Specimen by Culture

127

2.56

4.17

2.4

1.4

—

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

129

2.52

4.03

4.2

5.3

240.50

245.31

u/l

0.08

121

(3023520) Reticulocytes [#/volume] in Blood

2.76

3.99

2.7

3.4

73.83

67.60

e9/l

0.32

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

453

2.06

3.75

2.2

2.6

77.48

76.03

nmol/l

0.14

407

(3025159) Blasts/Leukocytes in Blood

2.64

3.56

4.3

4.5

0.60

0.47

—

(3002179) Metamyelocytes/Leukocytes in Blood

2.61

3.48

4.2

1.50

0.37

—

(3017181) Myelocytes/Leukocytes in Blood

2.55

3.44

5.0

4.0

0.75

1.11

—

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

7.34

3.41

1.9

1.0

—

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

2.83

3.38

3.6

3.2

145.18

157.12

ng/l

0.08

(3023368) Bacteria identified in Blood by Culture

296

2.02

3.38

8.1

4.4

—

(3042936) Bacteria identified in Isolate by Culture

163

2.21

3.29

3.6

2.1

—

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

186

2.15

3.27

4.4

3.9

436.15

232.76

ng/l

0.37

144

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

469

1.95

3.24

8.8

6.1

1.19

1.21

mmol/l

1.53

434

(3044941) Cell count panel - Synovial fluid

5.27

3.10

1.9

1.3

—

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

2.86

3.10

1.1

—

(3021589) Normoblasts [#/volume] in Blood

484

1.91

3.08

21.4

11.9

0.00

0.01

e9/l

0.50

385

(3018095) Leukocytes [#/volume] in Urine

412

1.90

3.01

4.5

4.0

20.09

103.13

e6/l

1.40

293

(3032080) INR in Blood by Coagulation assay

502

1.86

2.84

14.3

15.0

1.23

1.27

inr

0.29

413

(40758558) Short blood count panel - Blood

294

1.91

2.84

17.0

6.7

—

(3013742) Prealbumin [Mass/volume] in Serum or Plasma

2.43

2.81

3.1

2.1

0.20

0.22

g/l

0.34

(3018418) pH of Serum or Plasma

324

1.86

2.70

5.7

4.3

7.39

7.40

0.07

235

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

316

1.86

2.68

4.1

3.0

0.21

0.30

e6/l

0.54

226

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

3.54

2.67

2.0

1.4

—

(40760892) CBC W Ordered Manual Differential panel - Blood

242

1.90

2.60

9.4

5.7

—

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

3.51

2.45

2.2

1.2

—

(3021788) Differential panel - Synovial fluid

4.06

2.29

2.6

1.4

—

(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection

5.74

2.23

1.0

1.3

—

(3045142) Bone marrow Pathology biopsy report

5.74

2.23

1.2

1.3

—

(1616796) Gas panel - Central venous blood

3.84

2.18

4.9

1.8

—

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

2.42

2.17

1.8

1.4

—

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

5.16

2.09

1.2

1.3

143.40

102.10

pmol/l

—

(3000093) Morphology [Interpretation] in Blood Narrative

5.16

2.09

1.0

—

(3037522) Nuclear Ab [Titer] in Serum

159

1.90

2.08

1.3

1.4

272.00

567.37

titre

—

(36304419) Bacteria [Presence] in Urine

297

1.69

1.94

4.1

2.9

—

estimate

—

(3002582) Erythrocytes [#/volume] in Urine

378

1.65

1.94

4.2

3.2

110.09

229.59

e6/l

0.27

288

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

3.31

1.91

1.7

1.6

—

(3019977) pH of Arterial blood

125

1.93

1.87

10.5

6.7

7.41

7.42

0.54

(3012544) pH of Venous blood

110

1.98

1.86

4.1

3.6

7.35

7.39

—

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

189

1.78

1.86

2.2

1.9

—

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

594

1.62

1.82

8.2

6.6

10.14

12.10

umol/l

1.22

558

(3044290) Cell count panel - Cerebral spinal fluid

3.45

1.77

1.3

1.1

—

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

136

1.85

1.74

2.6

1.8

—

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

280

1.64

1.69

4.2

3.0

375.09

358.06

umol/l

0.35

239

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

2.02

1.64

3.2

2.6

11.60

10.04

g/l

0.89

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

239

1.65

1.62

5.7

4.1

—

0.33

—

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

459

1.55

1.58

2.8

2.1

100.69

98.88

pmol/l

0.10

240

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

2.69

1.54

1.4

1.8

—

(3026008) Bacteria identified in Urine by Culture

322

1.57

1.53

4.1

3.4

—

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

142

1.76

1.52

2.5

1.7

—

(40768797) Stomach Pathology biopsy report

143

1.75

1.49

1.3

—

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

237

1.60

1.44

1.4

1.2

0.86

0.90

u/ml

—

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

220

1.62

1.44

1.7

1.5

2.33

2.82

g/l

0.48

133

(3012516) Albumin [Mass/volume] in Urine

345

1.54

1.43

4.1

3.2

88.29

58.80

mg/l

0.26

218

(3020682) Albumin/Creatinine [Ratio] in Urine

356

1.52

1.39

5.0

3.9

13.61

10.42

mg/mmol

0.18

215

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

114

1.79

1.38

4.5

3.6

—

(3001334) Neutrophil cytoplasmic Ab [Units/volume] in Serum

2.23

1.37

1.2

—

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

2.23

1.37

3.4

2.6

—

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

240

1.58

1.37

2.1

1.7

2.78

1.34

mg/l

0.59

193

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

0.00

1.35

0.0

1.5

—

950.05

—

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

569

1.49

1.34

4.7

4.2

0.00

0.03

estimate

0.50

124

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

2.47

1.26

1.3

1.8

—

(3037756) Immunofixation for Serum or Plasma

2.47

1.26

1.3

—

(3019060) Gas panel - Arterial blood

1.93

1.25

5.4

3.5

—

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

1.90

1.20

1.9

0.80

1.26

g/l

1.34

(3015736) pH of Urine

443

1.44

1.16

4.5

3.9

6.26

0.01

257

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

560

1.44

1.15

4.8

4.2

0.00

12.40

estimate

0.50

131

(3013707) Erythrocyte sedimentation rate [Velocity] in Red Blood Cells by Westergren method

776

1.48

1.12

7.0

4.5

15.94

11.47

mm/h

1.55

719

(3048689) Calprotectin [Mass/mass] in Stool

114

1.68

1.10

1.2

2.1

232.76

131.84

ug/g

0.35

(3044889) 12 lead EKG panel

716

1.44

1.08

6.3

4.4

—

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

191

1.53

1.07

3.7

2.8

0.93

0.81

e6/l

0.11

102

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

115

1.66

1.07

4.4

3.6

5.86

5.60

kpa

0.46

108

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

556

1.41

1.05

4.8

4.1

0.00

estimate

-0.00

123

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

2.33

1.04

1.2

1.8

—

(3010421) pH of Blood

2.00

0.99

9.9

2.1

7.41

—

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

248

1.45

0.98

1.5

1.8

442.22

462.57

pmol/l

0.17

211

(3017732) Neutrophils [#/volume] in Blood

119

1.60

0.94

3.7

3.5

3.97

6.51

e9/l

0.69

107

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

1.87

0.88

1.5

2.3

—

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

125

0.53

0.83

1.6

1.5

—

(3013512) EKG study

382

0.72

0.82

3.3

4.0

—

(36660697) Celiac disease serology panel - Serum

1.66

0.82

1.2

—

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

1.69

0.81

5.5

3.4

50.43

67.43

ml/min/173m2

—

(3007930) Methemoglobin/Hemoglobin.total in Blood

1.71

0.80

5.5

3.5

0.94

0.88

—

(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma

0.00

0.80

0.0

1.2

—

1.58

—

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

0.00

0.79

0.0

1.2

—

0.93

—

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

159

0.60

0.79

1.6

—

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

1.80

0.77

1.0

1.1

—

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

126

1.50

0.75

1.2

1.5

—

(3049717) Cytology report of Urine Cyto stain

1.79

0.72

2.0

2.2

—

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

1.62

0.71

2.6

1.6

—

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

1.70

0.71

5.7

7.7

22.02

25.13

mmol/l

—

(1761868) Lipid panel - Serum or Plasma

394

0.75

0.69

3.5

3.3

—

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

1.82

0.67

1.4

1.7

—

(3019150) Specific gravity of Urine by Refractometry

238

1.35

0.65

6.1

4.5

1.01

1.02

kg/l

1.48

165

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

1.75

0.64

1.4

1.1

—

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

1.75

0.64

1.4

1.7

—

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

1.75

0.64

1.4

1.1

—

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

1.53

0.63

2.7

2.4

33.00

30.80

u/l

—

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

176

1.38

0.62

1.7

1.9

—

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

1.69

0.62

1.4

1.2

—

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

1.69

0.62

1.2

1.7

—

(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

1.58

0.61

2.2

1.6

—

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

0.00

0.61

0.0

1.4

—

1.23

—

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

0.00

0.61

0.0

1.4

—

1.43

—

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

0.00

0.61

0.0

1.4

—

0.97

—

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

0.00

0.60

0.0

1.5

—

(3044640) Blood type and Crossmatch panel - Blood

345

0.76

0.60

4.7

2.3

—

(3023081) Carboxyhemoglobin/Hemoglobin.total in Blood

1.54

0.60

5.5

3.3

1.38

1.51

—

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

0.00

0.59

0.0

1.3

—

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

1.70

0.57

2.7

1.3

—

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

757

1.25

0.52

4.3

4.4

14.63

14.88

pmol/l

0.37

688

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

155

1.35

0.51

12.7

5.7

102.65

104.22

mmol/l

0.71

155

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

1.55

0.49

1.4

1.3

—

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

1.55

0.49

3.4

3.2

7.64

930.92

u/ml

—

(40761535) Cells panel - Urine sediment

1.51

0.48

7.0

3.9

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

1.51

0.48

3.0

2.7

0.99

0.67

—

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

899

1.26

0.43

5.6

5.4

1.71

1.96

mu/l

1.54

824

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

435

1.21

0.43

5.4

4.1

0.00

0.03

estimate

0.50

105

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

1.54

0.42

3.6

1.3

—

(3008401) Mugwort IgE Ab [Units/volume] in Serum

0.00

0.41

0.0

1.0

—

1.32

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.41

0.0

1.4

—

1.34

—

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

0.00

0.40

0.0

1.1

—

1.96

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.40

0.0

1.4

—

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

487

1.20

0.39

3.8

2.8

—

estimate

—

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

0.00

0.39

0.0

1.4

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.39

0.0

1.5

—

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

183

1.25

0.35

3.8

3.0

1.70

1.83

e6/l

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

1.36

0.33

1.5

1.3

—

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

321

0.83

0.31

5.7

4.6

18.27

21.83

0.77

151

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

111

1.30

0.31

9.4

8.9

—

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

920

1.20

0.31

4.6

4.3

1.41

1.26

mmol/l

1.23

841

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

237

0.81

0.31

6.1

2.3

—

(3020891) Body temperature

1.26

0.30

5.9

4.0

36.63

36.91

°c

—

(40761536) Microorganisms panel - Urine sediment

1.31

0.29

4.5

3.4

—

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

314

1.16

0.26

6.6

4.1

0.00

0.02

estimate

0.50

115

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

591

1.14

0.25

3.3

3.1

—

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

101

979

1.18

0.24

31.2

16.9

27.02

24.64

mg/l

0.36

807

(3000991) Gas panel - Venous blood

1.27

0.23

14.8

8.7

—

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

1.20

0.21

1.4

2.1

—

(3032700) Glomerular basement membrane Ab [Units/volume] in Serum

0.00

0.21

0.0

1.1

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.21

0.0

1.1

—

(3012441) Differential panel - Pleural fluid

0.00

0.21

0.0

2.0

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.4

—

(3005136) Cladosporium herbarum IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.0

—

0.03

—

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

417

1.13

0.21

2.2

1.9

1.44

1.31

mmol/l

0.37

334

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

0.00

0.21

0.0

1.5

—

63.77

—

(3014133) Dog dander IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.0

—

0.80

—

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

0.00

0.21

0.0

1.9

—

21.39

—

(40759850) Jo-1 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.3

—

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

213

1.16

0.20

1.2

1.4

25.83

25.32

iu/ml

—

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

0.00

0.20

0.0

1.4

—

(3010726) Horse dander IgE Ab [Units/volume] in Serum

0.00

0.20

0.0

1.0

—

0.19

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.24

0.20

1.3

1.5

—

(1002224) Polysomnography panel

1.19

0.19

1.0

1.1

—

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

963

1.15

0.19

5.3

5.1

1.35

1.46

mmol/l

1.78

886

(3025941) Bacteria identified in Stool by Culture

1.14

0.17

1.4

1.2

—

(21494755) Public health laboratory ask at order entry panel

0.71

0.17

1.0

1.2

—

(3041096) Erythrocytes [Presence] in Urine by Automated

335

0.90

0.15

3.5

0.00

estimate

-0.00

101

(3022145) Colonoscopy Study observation

128

0.85

0.14

1.6

1.3

—

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

968

1.12

0.14

5.3

5.2

4.54

mmol/l

0.00

894

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

171

1.13

0.13

2.0

1.7

—

(3002256) Pathology report gross observation

147

0.87

0.12

1.2

—

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

100

982

1.10

0.11

6.1

6.0

2.61

2.62

mmol/l

0.03

907

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

193

1.11

0.10

1.2

1.4

19.90

7.39

u/ml

—

(40761511) CBC panel - Blood by Automated count

103

1013

1.11

0.10

21.9

14.9

—

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

440

0.93

0.10

4.8

4.2

40.61

43.39

ng/l

0.06

325

(4035726) Immunohistochemistry procedure

1.15

0.09

1.8

1.5

—

(3026361) Erythrocytes [#/volume] in Blood

107

1056

1.11

0.08

45.9

25.5

4.34

4.49

e12/l

1.66

102

1038

(3010813) Leukocytes [#/volume] in Blood

107

1056

1.11

0.08

45.9

25.5

7.20

6.65

e9/l

2.01

102

1039

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

1.03

0.08

2.7

2.8

1.06

1.19

—

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

1.04

0.07

1.9

2.1

—

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

0.87

0.07

1.3

1.5

—

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

282

0.95

0.05

1.3

1.4

—

(40768804) Tissue Pathology biopsy report

412

0.96

0.04

2.2

—

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

409

1.04

0.04

5.5

5.4

1.92

2.74

ug/l

0.42

360

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

250

0.95

0.03

3.6

3.0

0.75

0.72

ug/l

0.03

159

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

952

1.04

0.02

30.7

17.0

76.44

78.78

ml/min/173m2

0.45

892

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

1.05

0.00

1.8

2.3

—

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

1.01

0.00

1.5

1.8

—

(3000492) Spirometry study

1.03

0.00

2.0

1.5

—

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

957

1.01

0.00

5.1

5.4

6.03

5.97

mmol/l

0.20

889

(3024354) Oxygen [Partial pressure] in Venous blood

1.02

0.00

3.6

3.1

3.75

4.34

kpa

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.94

0.00

1.0

1.8

—

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

0.00

-0.00

0.0

18.2

—

940.40

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

-0.00

0.0

1.0

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.00

-0.00

1.2

—

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

0.00

-0.00

0.0

2.4

—

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

0.00

-0.00

0.0

2.4

—

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

0.00

-0.00

0.0

1.0

—

3.54

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.8

—

(3002079) Sodium [Moles/time] in 24 hour Urine

0.00

-0.00

0.0

1.4

—

160.80

—

(3051651) Icteric interference index of Serum or Plasma

0.00

-0.00

0.0

2.9

—

0.63

—

(3019897) Erythrocyte [DistWidth] in Red Blood Cells by Automated count

0.00

-0.00

0.0

1.2

—

14.00

—

(3018333) Ribosomal P Ab [Presence] in Serum

0.00

-0.00

0.0

1.3

—

(40768441) Liver Pathology biopsy report

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.3

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.9

—

279.86

—

(42529528) Centromere protein B Ab [Units/volume] in Serum by Line blot

0.00

-0.00

0.0

1.5

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

0.00

-0.00

0.0

1.5

—

(44806420) Estimation of glomerular filtration rate

0.00

-0.00

0.0

2.0

—

(37208534) Antinuclear antibody arbitrary concentration in serum

0.00

-0.00

0.0

1.0

—

(3044927) Protein electrophoresis panel - Urine

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.7

—

(40760543) Extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.9

—

49.57

—

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

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints