Risteys · E4_PORCUTTAR

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 — E80.1 Hospital discharge: ICD-9 — 2771B Hospital discharge: ICD-8 — 27310 Cause of death: ICD-10 — E80.1 Cause of death: ICD-9 — 2771B Cause of death: ICD-8 — 27310 2 out of 7 registries used, show all original rules.	35
4. Check minimum number of events None	35
5. Include endpoints None	35
6. Filter based on genotype QC (FinnGen only)	35

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	274	100	165
Only index persons	215	85	130
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.00	0.00
Median age at first event (years)
Whole population	54.68	54.55	54.79
Only index persons	53.46	53.04	53.73

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	35	13	22
Unadjusted period prevalence (%)	0.01	0.00	0.01
Median age at first event (years)	58.25	56.16	59.49

-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

Not a core endpoint, no data to show.

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.

No data available

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

unit

cases

controls

-log₁₀(p)

N cases

N controls

(3020123) Porphyrins [Interpretation] in Serum or Plasma

+∞

8.67

1.9

0.0

—

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

101

7.08

6.74

8.1

2.1

ug/l

213.5

183.2

0.18

(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma

5.43

5.55

2.6

1.9

mg/l

3.3

3.4

0.05

(3000494) Fungus identified in Specimen by Culture

5.37

4.71

1.3

1.4

—

(42870588) Differential panel, method unspecified - Blood

4.60

4.70

8.6

6.1

—

(3006504) Eosinophils/100 leukocytes in Blood

120

4.18

3.86

10.5

6.9

3.0

2.6

0.38

115

(3003396) Base excess in Arterial blood by calculation

4.72

3.84

8.0

4.2

mmol/l

1.9

0.4

—

(3019069) Monocytes/100 leukocytes in Blood

122

4.08

3.73

10.7

7.3

10.1

8.3

1.54

117

(3032080) INR in Blood by Coagulation assay

115

3.92

3.63

7.7

7.6

inr

1.0

1.2

—

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

144

4.12

3.60

6.2

6.9

umol/l

10.3

13.0

0.70

135

(3022096) Basophils/100 leukocytes in Blood

117

3.82

3.50

11.0

6.8

0.7

0.6

0.56

111

(40758558) Short blood count panel - Blood

3.58

3.31

6.2

7.1

—

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

132

3.60

3.12

13.9

5.9

mmol/l

1.2

0.81

117

(3034770) Mitochondria Ab [Titer] in Serum

11.34

3.07

1.0

1.6

—

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

3.63

3.03

1.3

1.5

g/l

4.2

2.3

—

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

3.88

3.00

2.2

1.7

—

(3012544) pH of Venous blood

4.67

2.92

3.8

2.5

—

(3042936) Bacteria identified in Isolate by Culture

3.63

2.90

2.5

1.7

—

(3007566) Smooth muscle Ab [Titer] in Serum

9.44

2.84

1.0

1.5

—

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

3.84

2.78

2.9

1.7

—

(3000991) Gas panel - Venous blood

4.86

2.76

10.1

6.0

—

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

3.09

2.63

4.2

3.4

mmol/l

2.3

0.23

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

5.78

2.51

5.7

6.6

mmol/l

22.8

23.7

—

(3004588) Protein electrophoresis panel - Serum or Plasma

4.86

2.50

1.1

1.4

—

(3013707) Erythrocyte sedimentation rate by Westergren method

201

3.57

2.47

5.2

4.2

mm/h

22.9

11.8

1.31

191

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

7.05

2.45

1.2

1.5

—

(3044640) Blood type and Crossmatch panel - Blood

2.77

2.19

3.6

2.8

—

(3020961) Endomysium IgA Ab [Titer] in Serum

5.62

2.14

1.0

1.1

—

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

4.59

2.14

3.3

1.9

—

(3007853) Bacteria identified in Skin by Aerobe culture

3.31

2.12

3.4

1.5

—

(3019060) Gas panel - Arterial blood

4.29

2.03

7.7

2.0

—

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

225

3.32

1.87

12.2

7.7

u/l

91.1

75.8

1.37

216

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

4.29

1.78

15.8

4.3

—

(40768443) Skin Pathology biopsy report

4.29

1.78

1.0

1.2

—

(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma

2.49

1.74

1.2

1.7

u/l

198.8

152.4

0.15

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

3.10

1.68

1.0

1.6

nmol/l

423.3

462.8

—

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

126

2.37

1.64

14.7

4.0

—

(3004119) Hemoglobin [Mass/volume] in Venous blood

3.70

1.58

1.8

2.1

g/l

121.2

131.6

—

(3037467) Urinalysis macro (dipstick) panel - Urine

191

2.40

1.51

4.6

3.7

—

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

2.76

1.48

7.7

3.2

—

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

105

2.20

1.41

4.1

2.9

—

(40760892) CBC W Ordered Manual Differential panel - Blood

2.33

1.39

7.4

7.3

—

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

2.66

1.38

7.0

4.4

mmol/l

98.1

102.7

—

(4035726)

2.80

1.37

1.5

1.4

—

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

2.80

1.37

2.2

1.7

—

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

198

2.21

1.32

4.9

2.8

u/l

67.5

49.0

0.78

192

(36304419) Bacteria [Presence] in Urine

2.14

1.25

4.1

2.6

—

(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma

2.66

1.20

2.6

2.8

umol/l

7.1

10.8

—

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

204

2.06

1.14

3.4

3.5

pmol/l

14.8

15.0

0.17

187

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

2.23

1.13

2.9

1.9

—

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

2.17

1.12

1.3

—

34.7

—

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

2.12

1.09

2.2

2.1

—

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

173

1.96

1.01

3.7

3.0

—

(3022145) Colonoscopy Study observation

2.37

0.97

1.7

1.5

—

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

1.90

0.97

4.0

3.2

—

(3023368) Bacteria identified in Blood by Culture

1.93

0.95

15.5

4.8

—

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

137

1.85

0.92

3.8

3.1

estimate

0.0

—

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

1.97

0.92

4.2

2.8

—

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

2.12

0.89

2.8

1.5

—

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

139

1.80

0.87

3.8

3.1

estimate

0.0

—

(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma

0.00

0.83

0.0

2.2

—

(3013512) EKG study

1.85

0.82

2.7

4.0

—

(3000492) Spirometry study

2.36

0.80

2.8

1.3

—

(40761536) Microorganisms panel - Urine sediment

2.26

0.78

6.4

4.0

—

(3019832) Treponema pallidum Ab [Presence] in Serum

2.16

0.76

1.6

1.7

—

(3048689) Calprotectin [Mass/mass] in Stool

2.16

0.76

4.2

2.0

ug/g

137.8

82.4

—

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

106

1.73

0.74

1.5

1.9

pmol/l

94.5

100.2

—

(40768797) Stomach Pathology biopsy report

1.78

0.72

1.1

1.3

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.77

0.69

3.4

2.8

—

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

1.92

0.62

2.8

1.7

—

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

139

1.61

0.61

4.9

4.0

estimate

0.0

—

(40768804) Tissue Pathology biopsy report

112

1.59

0.58

2.7

2.3

—

(3026008) Bacteria identified in Urine by Culture

1.46

0.43

4.8

2.3

—

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

1.50

0.41

6.0

9.1

—

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

1.45

0.40

1.2

1.6

—

(3044889) 12 lead EKG panel

202

1.40

0.34

4.7

3.9

—

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

1.32

0.30

4.1

3.0

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.22

0.0

2.0

—

(3008898) HLA-B27 [Presence]

0.00

0.22

0.0

1.3

—

(3036489) Thrombin time

0.00

0.22

0.0

1.8

—

19.5

—

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

0.00

0.22

0.0

2.7

—

(40768800) Prostate Pathology biopsy report

0.00

0.21

0.0

1.2

—

(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal

0.00

0.21

0.0

1.0

—

(3027238) Thyroperoxidase Ab [Units/volume] in Serum or Plasma

0.00

0.20

0.0

1.2

—

56.2

—

(3015736) pH of Urine

102

1.27

0.18

3.9

2.9

—

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

1.18

0.18

1.1

1.3

—

(3009542) Hematocrit [Volume Fraction] of Blood

247

1.20

0.15

40.8

13.3

38.4

39.6

0.18

187

(1761868) Lipid panel - Serum or Plasma

113

0.96

0.00

2.5

2.7

—

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

111

0.99

0.00

4.5

4.8

21.9

22.9

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

104.8

—

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

0.00

0.0

4.8

—

22.4

—

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

0.97

0.00

3.4

3.3

ug/l

0.7

0.8

—

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

0.00

0.0

2.0

—

0.8

—

(3027529) Toxoplasma gondii IgM Ab [Units/volume] in Serum

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(3018301) Testosterone Free [Moles/volume] in Serum or Plasma

0.00

0.0

1.6

—

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

0.00

0.0

2.0

—

(3014959) Toxoplasma gondii IgG Ab [Units/volume] in Serum

0.00

0.0

2.6

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.0

1.0

—

(3036782) Glucose [Moles/volume] in Pleural fluid

0.00

0.0

1.6

—

6.8

—

(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]

0.00

0.0

2.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(40761511) CBC panel - Blood by Automated count

297

1.07

0.00

44.5

11.9

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

0.00

0.0

1.6

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

0.00

0.0

1.9

—

213.9

—

(4034850)

0.00

0.0

28.1

—

(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma

0.00

0.0

1.5

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.0

3.0

—

(4094501)

0.00

0.0

1.3

—

(3027008) Opiates [Presence] in Urine

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.0

1.0

—

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

0.00

0.0

3.0

—

6.6

—

(3016879) Cocaine [Presence] in Urine

0.00

0.0

1.0

—

(3024172) Erythropoietin (EPO) [Units/volume] in Serum or Plasma

0.00

0.0

1.0

—

15.7

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_PORCUTTAR and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_PORCUTTAR.

N-year risk	Females	Males
1	No data	No data
5	No data	No data
10	No data	No data
15	No data	No data
20	No data	No data

Relationships between endpoints

↥

Index endpoint: E4_PORCUTTAR – Porphyria cutanea tarda

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

NAME	E4_PORCUTTAR
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E801
HD_ICD_9	2771B
HD_ICD_8	27310
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E801
COD_ICD_9	2771B
COD_ICD_8	27310
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

Porphyria cutanea tarda

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)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints