Risteys · E4_PURINEPYRINAS

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 — E79.8, E79.9 Hospital discharge: ICD-9 — 2772 Hospital discharge: ICD-8 — 27050 Cause of death: ICD-10 — E79.8, E79.9 Cause of death: ICD-9 — 2772 Cause of death: ICD-8 — 27050 2 out of 7 registries used, show all original rules.	31
4. Check minimum number of events None	31
5. Include endpoints None	31
6. Filter based on genotype QC (FinnGen only)	31

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	261	127	133
Only index persons	225	113	112
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	66.23	68.45	64.17
Only index persons	66.10	68.11	64.08

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	31	18	13
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	62.72	61.00	65.10

-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

(3041096) Erythrocytes [Presence] in Urine by Automated

3.47

2.80

4.9

3.2

—

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

3.33

2.66

5.2

3.6

—

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

8.22

2.65

2.0

1.4

—

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

110

3.31

2.54

5.4

3.6

estimate

0.0

—

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

111

3.26

2.48

5.3

3.6

estimate

0.0

—

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

4.70

2.41

2.4

4.1

—

(3019225) pH of Specimen

4.70

2.41

3.7

5.2

—

(3013512) EKG study

3.12

2.41

4.8

3.6

—

(3044640) Blood type and Crossmatch panel - Blood

3.10

2.36

2.5

2.1

—

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

108

2.96

2.17

8.8

5.0

estimate

0.0

—

(3023368) Bacteria identified in Blood by Culture

2.94

2.16

5.8

3.9

—

(3020961) Endomysium IgA Ab [Titer] in Serum

5.72

2.15

1.0

1.1

—

(40768443) Skin Pathology biopsy report

4.68

2.15

1.2

1.1

—

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

2.95

2.08

3.4

3.8

estimate

0.0

—

(3042936) Bacteria identified in Isolate by Culture

3.12

1.99

3.1

2.4

—

(42870588) Differential panel, method unspecified - Blood

2.65

1.81

10.1

5.5

—

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

3.31

1.77

1.7

1.6

—

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

2.59

1.75

6.5

3.9

ng/l

41.4

51.8

0.17

(3015736) pH of Urine

2.45

1.53

6.3

3.6

—

(3024561) Albumin [Mass/volume] in Serum or Plasma

113

2.41

1.52

5.0

3.0

g/l

34.3

34.5

0.08

106

(36660697) Celiac disease serology panel - Serum

3.30

1.41

1.4

1.1

—

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

2.29

1.36

3.5

3.0

—

(3000991) Gas panel - Venous blood

3.10

1.34

7.0

3.9

—

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

2.44

1.14

1.1

1.8

—

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

2.26

1.12

1.8

1.7

nmol/l

18.1

22.8

—

(3026008) Bacteria identified in Urine by Culture

2.13

1.08

5.5

3.0

—

(3012544) pH of Venous blood

2.51

1.07

3.6

3.9

—

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

2.21

1.07

2.8

2.2

—

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

107

2.02

1.04

3.5

—

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

2.10

0.95

3.1

1.8

—

(40768804) Tissue Pathology biopsy report

1.95

0.94

1.2

2.2

—

(40768797) Stomach Pathology biopsy report

2.23

0.93

1.8

1.3

—

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

2.15

0.90

4.8

4.9

mmol/l

105.0

103.6

—

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

2.39

0.80

3.6

4.0

kpa

5.4

6.2

—

(3001604) Monocytes [#/volume] in Blood

126

1.77

0.74

6.6

6.7

e9/l

0.7

0.6

0.41

110

(3006315) Basophils [#/volume] in Blood

127

1.75

0.71

6.9

6.7

e9/l

0.0

0.14

112

(3022145) Colonoscopy Study observation

1.93

0.69

1.4

1.6

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.72

0.66

3.3

6.3

—

(3019198) Lymphocytes [#/volume] in Blood

129

1.70

0.66

7.1

6.8

e9/l

2.0

1.8

0.40

116

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

0.00

0.62

0.0

4.1

—

63.6

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.77

0.60

2.2

1.4

—

(3002385) Erythrocyte distribution width [Ratio]

207

0.60

0.59

25.8

16.9

14.1

13.9

0.25

201

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

142

0.65

0.44

5.6

2.9

—

(3037522) Nuclear Ab [Titer] in Serum

1.61

0.44

1.6

—

208.0

—

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

1.56

0.42

1.4

1.7

—

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

1.51

0.41

1.4

1.7

—

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

1.41

0.36

2.0

1.8

pmol/l

562.3

499.9

—

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

237

1.60

0.30

4.1

4.5

mmol/l

5.9

6.0

0.10

210

(36304419) Bacteria [Presence] in Urine

1.33

0.29

4.4

2.8

—

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

228

1.50

0.28

23.3

13.4

ml/min/173m2

79.0

77.3

0.13

191

(3008898) HLA-B27 [Presence]

0.00

0.22

0.0

1.1

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.22

0.0

1.5

—

(3052851) Hemolysis interference index of Serum or Plasma

0.00

0.21

0.0

5.3

—

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

1.25

0.21

5.2

3.7

—

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

0.00

0.20

0.0

1.8

—

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

1.21

0.19

1.1

1.4

—

(3044889) 12 lead EKG panel

168

0.79

0.18

4.4

4.0

—

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

1.19

0.10

5.0

3.3

ug/l

0.7

0.6

—

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

237

1.28

0.08

4.5

4.8

mmol/l

2.4

2.6

0.43

210

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

228

1.23

0.08

3.4

3.8

mmol/l

1.5

1.3

0.70

198

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

233

1.13

0.00

4.2

4.1

mmol/l

1.4

1.5

0.70

205

(1761868) Lipid panel - Serum or Plasma

0.98

0.00

2.8

2.6

—

(3027544) Mycobacterium sp identified in Sputum by Organism specific culture

0.00

0.0

4.8

—

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

0.00

0.0

1.2

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.3

—

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

0.00

0.0

1.4

—

55.1

—

(4094501)

0.00

0.0

1.0

—

(44790048)

0.00

0.0

1.3

—

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

0.00

0.0

4.0

—

106.6

—

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

0.00

0.0

4.0

—

3.9

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.0

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

3.5

—

(3051651) Icteric interference index of Serum or Plasma

0.00

0.0

1.3

—

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.3

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

0.0

1.9

—

(3023150) Myeloperoxidase Ab [Units/volume] in Serum

0.00

0.0

2.6

—

(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence

0.00

0.0

1.4

—

(44790047)

0.00

0.0

1.3

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.0

4.8

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.0

1.0

—

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

0.00

0.0

2.9

—

(3003327) Ova and parasites identified in Stool by Light microscopy

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

(3007566) Smooth muscle Ab [Titer] in Serum

0.00

0.0

1.4

—

(3023183) Ammonium ion [Moles/volume] in Plasma

0.00

0.0

1.5

—

33.7

—

(44790049)

0.00

0.0

1.3

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.5

—

(3009542) Hematocrit [Volume Fraction] of Blood

222

0.97

0.00

24.8

14.7

36.3

39.5

0.41

156

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

0.00

0.0

4.0

—

(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma

0.00

0.0

2.3

—

2.1

—

(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.4

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.0

—

(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.7

—

(44806118)

0.00

0.0

1.3

—

(40758558) Short blood count panel - Blood

1.00

0.00

4.4

7.5

—

(3020891) Body temperature

0.00

0.0

5.6

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_PURINEPYRINAS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_PURINEPYRINAS.

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_PURINEPYRINAS – Disorders of purine and pyrimidine metabolism, other/unspecified

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_PURINEPYRINAS
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	E79[8-9]
HD_ICD_9	2772
HD_ICD_8	27050
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E79[8-9]
COD_ICD_9	2772
COD_ICD_8	27050
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

Disorders of purine and pyrimidine metabolism, other/unspecified

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