Risteys · E4_PHENYLKETOUR

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 — E70.0 Hospital discharge: ICD-9 — 2701 Hospital discharge: ICD-8 — 27000 Cause of death: ICD-10 — E70.0 Cause of death: ICD-9 — 2701 Cause of death: ICD-8 — 27000 2 out of 7 registries used, show all original rules.	24
4. Check minimum number of events None	24
5. Include endpoints None	24
6. Filter based on genotype QC (FinnGen only)	24

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	290	145	141
Only index persons	194	90	104
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	58.05	60.84	55.27
Only index persons	52.36	53.17	51.65

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	24	13	11
Unadjusted period prevalence (%)	0.00	0.00	0.00
Median age at first event (years)	39.53	34.01	46.06

-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

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

4.29

2.93

4.3

2.3

96.4

86.0

ug/l

0.14

(3013115) Eosinophils [#/volume] in Blood

108

4.62

2.68

10.4

6.2

0.2

e9/l

0.49

101

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

8.61

2.68

1.4

1.0

—

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

5.75

2.44

3.7

7.5

7.1

8.6

mmol/l

—

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

5.32

2.31

4.7

3.6

69.9

58.2

ng/l

—

(3024354) Oxygen [Partial pressure] in Venous blood

4.95

2.19

2.5

5.8

4.4

kpa

—

(3007853) Bacteria identified in Skin by Aerobe culture

4.26

2.16

3.0

1.5

—

(40758558) Short blood count panel - Blood

3.32

2.09

10.5

7.6

—

(3019198) Lymphocytes [#/volume] in Blood

110

3.53

2.04

10.8

6.0

1.9

e9/l

0.11

104

(3012544) pH of Venous blood

4.33

1.98

4.7

5.6

—

(3005322) IgE [Units/volume] in Serum or Plasma

4.95

1.92

2.0

1.3

104.6

209.1

u/ml

—

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

3.07

1.83

1.8

2.4

45.3

56.7

u/l

1.27

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

104

3.16

1.78

8.2

7.7

7.5

11.8

umol/l

1.61

(3015736) pH of Urine

2.93

1.71

3.9

3.7

—

(3000492) Spirometry study

3.64

1.70

1.0

1.5

—

(3023368) Bacteria identified in Blood by Culture

2.81

1.56

3.2

5.5

—

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

2.81

1.56

4.1

4.0

—

(3026008) Bacteria identified in Urine by Culture

2.66

1.47

3.3

3.1

—

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

2.60

1.35

2.5

1.8

101.9

108.7

pmol/l

—

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

207

+∞

1.28

26.3

15.5

78.7

72.7

umol/l

0.29

207

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

2.73

1.27

2.0

1.6

1343.2

963.6

nmol/l

—

(40760892) CBC W Ordered Manual Differential panel - Blood

2.59

1.23

5.6

6.2

—

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

2.43

1.21

4.2

3.6

—

(3006504) Eosinophils/100 leukocytes in Blood

101

2.29

1.08

11.5

5.0

2.7

0.05

(3019069) Monocytes/100 leukocytes in Blood

102

2.25

1.08

11.6

5.1

8.1

8.6

0.32

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

2.62

1.02

1.8

2.0

—

(3019150) Specific gravity of Urine by Refractometry

2.22

0.99

3.6

4.7

—

1.0

—

(3018010) Neutrophils/100 leukocytes in Blood

107

2.07

0.88

11.5

4.9

54.7

55.9

0.18

102

(3002030) Lymphocytes/100 leukocytes in Blood

107

2.07

0.88

11.5

5.0

30.3

29.0

0.20

102

(3022096) Basophils/100 leukocytes in Blood

2.06

0.86

12.3

5.1

0.7

0.08

(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma

0.00

0.84

0.0

4.6

—

34.9

—

(3017446) Testosterone [Moles/volume] in Serum or Plasma

0.00

0.83

0.0

3.2

—

14.2

—

(36304419) Bacteria [Presence] in Urine

2.05

0.81

3.8

3.0

—

(3000494) Fungus identified in Specimen by Culture

2.36

0.80

2.4

1.4

—

(36660697) Celiac disease serology panel - Serum

2.36

0.80

1.4

1.2

—

(42870588) Differential panel, method unspecified - Blood

2.01

0.77

10.2

5.7

—

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

0.00

0.63

0.0

1.5

—

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

0.00

0.62

0.0

1.7

—

(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma

218

+∞

0.62

14.7

10.0

40.5

26.4

u/l

0.48

206

(3019832) Treponema pallidum Ab [Presence] in Serum

0.00

0.61

0.0

1.6

—

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

140

1.73

0.55

4.6

2.7

40.9

41.8

u/l

0.03

133

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

1.71

0.45

1.0

1.3

—

(3042936) Bacteria identified in Isolate by Culture

1.65

0.44

2.6

2.3

—

(4010399)

0.00

0.43

0.0

1.4

—

(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.43

0.0

1.6

—

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

0.00

0.43

0.0

1.5

—

45.0

—

(3044889) 12 lead EKG panel

127

1.48

0.40

3.4

—

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

1.52

0.39

2.2

1.5

—

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

1.54

0.35

4.2

3.9

—

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

1.52

0.34

10.4

4.0

1.2

mmol/l

0.12

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

1.35

0.25

1.4

1.5

24.7

21.6

nmol/l

—

(3024891) Influenza virus A+B Ag [Presence] in Specimen

0.00

0.22

0.0

1.0

—

(3000330) Specific gravity of Urine by Test strip

0.00

0.22

0.0

2.3

—

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.22

0.0

1.3

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.22

0.0

2.7

—

(3025941) Bacteria identified in Stool by Culture

0.00

0.22

0.0

1.1

—

(3048929) Epstein Barr virus Ab [Presence] in Serum

0.00

0.22

0.0

1.4

—

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.22

0.0

1.3

—

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

0.00

0.21

0.0

1.2

—

(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.20

0.0

1.4

—

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

146

1.29

0.18

3.0

—

(3037467) Urinalysis macro (dipstick) panel - Urine

125

1.29

0.15

6.0

3.9

—

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

195

0.88

0.10

4.4

4.3

1.3

1.5

mmol/l

0.51

179

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

1.16

0.09

3.6

3.8

2.4

mmol/l

—

(40768804) Tissue Pathology biopsy report

1.17

0.09

3.6

1.8

—

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

1.10

0.09

7.0

4.2

—

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

149

1.22

0.08

6.9

3.6

15.2

14.6

pmol/l

0.33

136

(3043109) Cytology report of Tissue fine needle aspirate Cyto stain

0.00

0.0

1.2

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.8

—

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.2

—

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

0.00

0.0

1.5

—

(3021387) Prolactin [Units/volume] in Serum or Plasma

0.00

0.0

2.0

—

571.0

—

(3008898) HLA-B27 [Presence]

0.00

0.0

1.0

—

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

0.00

0.0

1.7

—

(3041096) Erythrocytes [Presence] in Urine by Automated

0.85

0.00

3.8

2.8

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.5

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.3

—

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

0.00

0.0

2.0

—

(3026361) Erythrocytes [#/volume] in Blood

231

+∞

0.00

33.8

18.0

4.4

4.6

e12/l

0.84

223

(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain

0.00

0.0

1.4

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.0

2.3

—

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

0.00

0.0

1.4

—

18.9

—

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

0.00

0.0

1.5

—

(3009214) Lutropin [Units/volume] in Serum or Plasma

0.00

0.0

3.7

—

7.7

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.0

1.6

—

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

0.00

0.0

2.6

—

(40768443) Skin Pathology biopsy report

0.00

0.0

1.3

—

(3000963) Hemoglobin [Mass/volume] in Blood

231

+∞

0.00

34.0

18.1

130.5

136.9

g/l

1.44

224

(3016879) Cocaine [Presence] in Urine

0.00

0.0

2.3

—

(36032269) Testosterone Free [Moles/volume] in Serum or Plasma by calculation

0.00

0.0

1.4

—

203.1

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.0

3.6

—

(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum

0.00

0.0

1.4

—

(1002224) Polysomnography panel

0.00

0.0

1.3

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.0

2.3

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

(3010813) Leukocytes [#/volume] in Blood

231

+∞

0.00

33.9

17.9

7.1

6.6

e9/l

0.46

223

(3024731) MCV [Entitic volume]

231

+∞

0.00

33.7

17.9

90.0

90.2

0.03

224

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.0

—

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

1.03

0.00

2.2

1.4

—

(3007461) Platelets [#/volume] in Blood

231

+∞

0.00

33.9

18.0

229.2

250.2

e9/l

0.61

222

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

0.00

0.0

1.5

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.0

1.2

—

(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum

0.00

0.0

1.9

—

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

0.00

0.0

1.3

—

(3027008) Opiates [Presence] in Urine

0.00

0.0

2.3

—

(3035941) MCH [Entitic mass]

231

+∞

0.00

33.6

17.9

30.0

30.1

0.15

224

(3028300) Cannabinoids [Presence] in Urine

0.00

0.0

2.3

—

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

0.00

0.0

1.3

—

(3016888) Borrelia burgdorferi IgG Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma

0.00

0.0

1.6

—

70.5

—

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

0.00

0.0

2.2

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_PHENYLKETOUR and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_PHENYLKETOUR.

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_PHENYLKETOUR – Classical phenylketonuria

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_PHENYLKETOUR
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	E700
HD_ICD_9	2701
HD_ICD_8	27000
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E700
COD_ICD_9	2701
COD_ICD_8	27000
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

Classical phenylketonuria

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