Risteys · E4_HERERYPOR

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 — E80.0 Cause of death: ICD-10 — E80.0 2 out of 7 registries used, show all original rules.	29
4. Check minimum number of events None	29
5. Include endpoints None	29
6. Filter based on genotype QC (FinnGen only)	29

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	227	116	108
Only index persons	204	104	100
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	45.49	50.79	38.79
Only index persons	44.42	50.75	37.84

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	29	16	13
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	53.15	54.20	51.86

-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

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

6.01

5.26

2.5

1.8

mg/l

1.8

1.4

—

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

6.22

4.93

11.0

5.1

mmol/l

1.2

0.15

(3018418) pH of Serum or Plasma

5.03

4.40

5.1

2.6

—

7.4

—

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

10.50

4.38

7.7

2.1

ng/l

77.0

74.7

—

(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay

12.64

4.26

3.6

2.3

g/l

3.2

—

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

12.64

4.26

3.9

2.3

142.1

185.9

—

(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method

9.79

3.79

4.0

1.9

104.1

93.7

—

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

4.45

3.76

6.6

3.4

u/l

33.2

32.2

0.09

(3033658) Prothrombin time (PT) actual/Normal

4.37

3.62

8.2

3.2

90.3

97.3

0.44

(40758558) Short blood count panel - Blood

4.19

3.47

8.7

6.3

—

(3042936) Bacteria identified in Isolate by Culture

4.60

3.47

2.4

2.1

—

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

4.10

3.24

2.4

2.0

mg/l

2.4

3.5

1.42

(3020779) Urea [Moles/volume] in Serum or Plasma

7.28

3.23

8.6

4.8

mmol/l

5.6

9.5

—

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

4.02

3.16

6.8

2.3

nmol/l

74.9

67.6

0.53

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

3.82

3.01

8.9

4.6

mmol/l

1.2

0.14

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

118

3.81

2.86

9.1

7.1

umol/l

10.4

11.5

0.24

111

(42870588) Differential panel, method unspecified - Blood

3.40

2.60

12.3

4.6

—

(3022096) Basophils/100 leukocytes in Blood

114

3.42

2.56

12.7

5.5

0.6

0.02

103

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

4.39

2.49

6.0

7.3

mmol/l

105.3

103.1

—

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

3.18

2.33

3.1

1.9

pmol/l

88.0

93.1

0.20

(3019069) Monocytes/100 leukocytes in Blood

117

3.27

2.29

13.1

5.7

7.7

8.1

0.38

108

(3006504) Eosinophils/100 leukocytes in Blood

117

3.27

2.29

13.0

5.4

2.5

2.7

0.28

106

(3018010) Neutrophils/100 leukocytes in Blood

117

3.27

2.29

13.0

5.2

57.6

57.4

0.02

107

(3000494) Fungus identified in Specimen by Culture

3.61

2.24

10.1

1.7

—

(3002030) Lymphocytes/100 leukocytes in Blood

122

3.05

2.21

13.0

5.5

30.9

28.2

0.55

112

(3000991) Gas panel - Venous blood

4.74

2.16

5.2

6.1

—

(3000492) Spirometry study

3.92

1.85

2.2

1.3

—

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

163

2.98

1.76

5.0

2.7

u/l

50.3

54.9

0.11

154

(3012544) pH of Venous blood

3.16

1.52

3.8

2.3

—

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

3.16

1.52

3.7

2.3

kpa

6.3

5.8

—

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

252

+∞

1.47

27.1

14.9

umol/l

83.9

72.6

1.18

252

(3024354) Oxygen [Partial pressure] in Venous blood

2.96

1.27

1.2

2.3

kpa

4.8

4.4

—

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

2.21

1.17

4.5

3.1

—

(3013707) Erythrocyte sedimentation rate by Westergren method

177

2.44

1.16

7.6

3.8

mm/h

18.0

10.5

0.75

164

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

2.47

1.15

3.4

1.8

nmol/l

753.4

1158.8

—

(36304419) Bacteria [Presence] in Urine

2.25

1.14

4.4

2.8

—

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

2.20

1.03

6.5

2.2

umol/l

431.2

353.4

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.34

0.96

3.3

1.4

—

(3044889) 12 lead EKG panel

154

1.96

0.92

5.7

3.4

—

(40768797) Stomach Pathology biopsy report

2.03

0.84

1.0

1.4

—

(3002179) Metamyelocytes/100 leukocytes in Blood

0.00

0.83

0.0

3.8

—

0.4

—

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

2.04

0.80

4.1

2.1

—

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

145

1.90

0.79

5.9

4.1

—

16.6

—

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

2.20

0.77

4.8

1.3

—

(3044640) Blood type and Crossmatch panel - Blood

1.85

0.72

2.0

2.5

—

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

2.02

0.72

5.0

1.4

—

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

1.87

0.70

2.0

2.6

—

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

1.94

0.69

2.2

1.5

—

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

1.78

0.68

4.0

3.0

—

(1761868) Lipid panel - Serum or Plasma

0.53

0.67

1.3

2.4

—

(40761536) Microorganisms panel - Urine sediment

0.00

0.63

0.0

3.3

—

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

0.00

0.63

0.0

1.6

—

(3010813) Leukocytes [#/volume] in Blood

269

+∞

0.63

34.9

18.7

e9/l

6.8

6.5

0.34

264

(3026361) Erythrocytes [#/volume] in Blood

269

+∞

0.63

34.9

18.7

e12/l

4.6

4.5

0.36

264

(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma

0.00

0.62

0.0

1.8

—

(3026008) Bacteria identified in Urine by Culture

1.69

0.53

2.3

2.5

—

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

170

1.57

0.49

2.9

3.2

—

(3037467) Urinalysis macro (dipstick) panel - Urine

147

1.59

0.48

5.4

4.0

—

(3002256) Pathology report gross observation

1.68

0.45

1.2

1.3

—

(3008898) HLA-B27 [Presence]

0.00

0.42

0.0

1.0

—

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

140

1.52

0.41

7.6

4.1

mmol/l

6.1

6.6

1.02

124

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

1.36

0.33

1.3

2.4

—

(3023368) Bacteria identified in Blood by Culture

1.43

0.32

5.6

5.0

—

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

0.70

0.28

5.1

3.5

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.22

0.0

2.6

—

(3045414) Leukocytes [Presence] in Urine

0.00

0.22

0.0

1.7

—

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

0.00

0.22

0.0

1.9

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

0.00

0.21

0.0

2.0

—

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

0.00

0.21

0.0

3.3

—

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

0.00

0.21

0.0

1.5

—

(3030981) Hyaline casts [#/volume] in Urine by Automated count

0.00

0.21

0.0

2.3

—

0.1

—

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

1.27

0.20

3.1

2.8

ng/l

717.9

1963.2

—

(40768804) Tissue Pathology biopsy report

107

0.77

0.16

3.1

2.0

—

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

104

0.81

0.16

2.6

4.1

—

(3015736) pH of Urine

1.19

0.08

2.6

3.0

—

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

114

1.09

0.01

6.8

4.4

—

0.0

—

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

117

1.04

0.00

3.7

3.5

—

0.0

—

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

115

1.07

0.00

3.8

3.5

—

0.0

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.0

1.7

—

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

0.00

0.0

1.7

—

(3041354) Potassium [Moles/volume] in Venous blood

0.00

0.0

2.6

—

3.8

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(3010521) Mycoplasma 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

6.4

—

(4094501)

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

2.4

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.6

—

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

0.90

0.00

1.7

2.8

u/l

57.9

57.7

—

(3035285) Chloride [Moles/volume] in Venous blood

0.00

0.0

2.6

—

107.6

—

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

1.05

0.00

2.0

1.6

pmol/l

790.4

520.2

—

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

0.98

0.00

1.2

1.6

—

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

0.00

0.0

2.4

—

(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method

0.00

0.0

1.2

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.0

1.4

—

(3038515) Glucose [Moles/volume] in Venous blood

0.00

0.0

4.3

—

6.9

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.4

—

(3033705) Calcium.ionized [Moles/volume] in Venous blood

0.00

0.0

2.6

—

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

0.00

0.0

1.0

—

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

0.00

0.0

6.0

—

30.1

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

0.00

0.0

1.2

—

52.4

—

(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma

0.00

0.0

3.0

—

42.0

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.0

1.4

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.00

0.00

6.3

5.3

—

(3014051) Protein [Presence] in Urine by Test strip

0.00

0.0

2.2

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.0

1.4

—

(3008037) Lactate [Moles/volume] in Venous blood

0.00

0.0

4.3

—

1.7

—

(1761482) Bacteria [#/volume] in Urine by Culture

0.00

0.0

4.1

—

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

0.00

0.0

1.4

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.3

—

(3035637) Corticotropin [Mass/volume] in Plasma

0.00

0.0

2.0

—

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

226

1.09

0.00

4.8

4.4

mmol/l

5.8

5.9

0.09

205

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

0.00

-0.00

0.0

1.4

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_HERERYPOR and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_HERERYPOR.

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_HERERYPOR – Hereditary erythropoietic porphyria

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_HERERYPOR
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	E800
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	E800
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

Hereditary erythropoietic porphyria

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