Risteys · E4_AMINOTRANSPORT

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 — E72.0 Hospital discharge: ICD-9 — 2700 Hospital discharge: ICD-8 — 270[1-3] Cause of death: ICD-10 — E72.0 Cause of death: ICD-9 — 2700 Cause of death: ICD-8 — 270[1-3] 2 out of 7 registries used, show all original rules.	69
4. Check minimum number of events None	69
5. Include endpoints None	69
6. Filter based on genotype QC (FinnGen only)	62

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	504	254	247
Only index persons	411	212	199
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.01
Only index persons	0.01	0.01	0.01
Median age at first event (years)
Whole population	46.24	47.45	44.84
Only index persons	47.91	49.69	46.01

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	62	28	34
Unadjusted period prevalence (%)	0.01	0.01	0.02
Median age at first event (years)	50.90	40.60	59.38

-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

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
65: Matched controls
650

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

E72.0

ICD-10 Finland

Disorders of amino-acid transport

+∞

66.5

E78.01

ICD-10 Finland

Pure hypercholesterolaemia

7.1

11.2

103

Kela drug reimbursment

Diabetes, insulin-treated

5.5

10.5

E78.00

ICD-10 Finland

Familial hypercholesterolaemia

58.1

8.9

A10BA02

ATC

metformin; oral

4.7

8.5

101

C10AA01

ATC

simvastatin; oral

4.5

8.3

155

XF400

NOMESCO Finland

ECG with 12 standard connections

5.7

8.0

KH1AE

NOMESCO Finland

Urinary tract ultrasound examination

12.4

8.0

E11.9

ICD-10 Finland

Type 2 diabetes mellitus, without complications

4.7

8.0

215

Kela drug reimbursment

Diabetes, non-insulin-treated

4.5

7.5

E78.5

ICD-10 Finland

Hyperlipidaemia, unspecified

14.4

7.4

N10

ICD-10 Finland

Acute tubulo-interstitial nephritis

5.4

7.3

C10AA05

ATC

atorvastatin; oral

3.9

6.8

143

B81

ICPC

Anaemia vit B12/folate deficiency

29.9

6.4

503

Kela drug reimbursment

Inborn metabolic disorders

+∞

6.3

N16.3*E72.0

ICD-10 Finland

Renal tubulo-interstitial disorders in cystinosis

+∞

6.3

124

Kela drug reimbursment

Inborn metabolic disorders

+∞

6.3

2700A

ICD-9 Finland

Disorders of amino-acid transport and metabolism, Disturbances of amino-acid transport[CYSTINURIA]

+∞

6.3

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

4.5

6.3

C01DA02

ATC

glyceryl trinitrate; oral, oral aerosol, sublingual, transdermal

4.2

6.1

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3012544) pH of Venous blood

6.35

8.98

10.9

2.4

7.36

7.39

0.98

(3009508) Creatinine [Moles/volume] in Urine

163

4.48

8.23

8.6

2.7

6.57

8.13

mmol/l

1.71

135

(3012516) Albumin [Mass/volume] in Urine

151

4.10

7.36

8.8

2.9

112.12

56.08

mg/l

0.56

(3007628) Bicarbonate [Moles/volume] standard in Venous blood

10.15

7.28

9.5

3.1

24.49

23.99

mmol/l

0.19

(3020682) Albumin/Creatinine [Ratio] in Urine

154

4.00

7.10

10.2

3.4

20.42

7.93

mg/mmol

0.79

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

4.38

6.75

5.4

5.0

102.59

104.50

mmol/l

1.12

(3032641) Amino acids panel - Urine

+∞

6.34

2.3

0.0

—

(3018418) pH of Serum or Plasma

137

3.63

6.11

15.8

3.2

7.38

7.40

1.17

100

(3000991) Gas panel - Venous blood

5.59

5.29

15.1

7.9

—

(3018081) Beta-2-Microglobulin [Mass/volume] in Urine

+∞

5.27

3.4

0.0

27.72

—

mg/l

—

(3013336) Amino acids [Identifier] in Serum or Plasma

+∞

5.27

11.6

0.0

—

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

6.49

5.25

8.5

7.2

25.88

25.45

mmol/l

0.09

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

105

3.24

4.72

5.7

3.8

—

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

240

3.12

4.62

25.5

4.9

1.20

1.21

mmol/l

0.34

211

(3015736) pH of Urine

198

3.02

4.56

6.5

3.4

6.30

6.16

0.39

116

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

173

2.84

4.12

11.0

3.1

—

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

3.21

4.12

7.5

2.7

3.77

2.22

e6/l

0.24

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

8.10

3.99

2.6

2.4

—

(36304419) Bacteria [Presence] in Urine

124

2.83

3.82

10.0

2.8

—

estimate

—

(3024928) Oxygen saturation in Venous blood

10.84

3.57

2.3

57.73

57.15

—

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

2.91

3.52

7.5

2.6

1.04

0.76

e6/l

0.11

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

203

2.57

3.42

3.8

1.8

93.81

101.58

pmol/l

0.39

(3022313) Gas panel - Capillary blood

4.72

3.36

7.2

1.8

—

(3014111) Lactate [Moles/volume] in Serum or Plasma

3.64

3.05

7.1

6.7

1.03

1.25

mmol/l

0.60

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

102

2.56

2.88

1.8

1.5

3.21

3.20

g/l

0.01

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

3.07

2.82

2.5

1.7

—

(3023368) Bacteria identified in Blood by Culture

142

2.38

2.77

5.4

4.5

—

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

2.86

2.66

6.7

7.4

—

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

5.88

2.60

1.8

1.3

—

(3037467) Urinalysis macro (dipstick) panel - Urine

328

2.38

2.56

12.4

4.2

—

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

2.62

2.53

2.3

1.8

—

(40758558) Short blood count panel - Blood

156

2.25

2.48

5.6

—

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

2.82

2.46

2.6

1.7

—

(3019230) Fractional oxyhemoglobin in Venous blood

6.65

2.41

2.6

1.9

60.40

61.96

—

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

255

2.18

2.39

9.2

3.6

0.00

estimate

—

(3042936) Bacteria identified in Isolate by Culture

2.50

2.32

1.9

2.2

—

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

260

2.11

2.22

9.4

3.6

0.00

estimate

—

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

4.00

2.22

12.7

7.9

15.24

15.31

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

2.49

2.19

5.3

1.9

27.80

29.25

0.67

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

3.50

2.18

2.4

2.2

0.90

1.72

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

3.50

2.18

2.4

2.2

0.61

0.68

—

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

263

2.07

2.12

9.4

3.6

0.00

estimate

—

(42870588) Differential panel, method unspecified - Blood

167

2.05

2.02

9.9

5.1

—

(3025941) Bacteria identified in Stool by Culture

3.23

2.01

1.5

1.3

—

(3009445) Proteinase 3 Ab [Units/volume] in Serum

4.02

1.98

1.2

1.1

—

(3010421) pH of Blood

4.02

1.98

7.5

2.0

7.40

7.43

—

(3015235) Bicarbonate [Moles/volume] in Capillary blood

4.02

1.98

3.0

1.8

22.38

25.75

mmol/l

—

(3027315) Oxygen [Partial pressure] in Blood

4.82

1.98

7.4

1.6

9.08

7.88

kpa

—

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

4.82

1.98

1.6

1.1

—

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

4.82

1.98

1.0

—

(3013290) Carbon dioxide [Partial pressure] in Blood

4.82

1.98

7.4

1.6

4.94

4.99

kpa

—

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

129

2.07

1.88

3.3

2.2

—

(3027801) Oxygen [Partial pressure] in Arterial blood

2.50

1.87

11.0

6.1

11.98

11.89

kpa

0.02

(3002173) Hemoglobin [Mass/volume] in Arterial blood

2.55

1.82

11.7

6.4

121.18

124.19

g/l

0.17

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

156

1.98

1.79

8.9

3.9

0.00

estimate

—

(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

3.14

1.78

1.6

1.7

—

(3019150) Specific gravity of Urine by Refractometry

124

2.02

1.75

7.3

4.0

1.02

kg/l

0.20

(40768443) Skin Pathology biopsy report

3.37

1.70

1.0

1.1

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.29

1.68

2.2

1.9

—

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

2.56

1.68

1.4

1.8

—

(3008152) Bicarbonate [Moles/volume] in Arterial blood

2.71

1.66

11.1

5.4

24.55

24.80

mmol/l

—

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

111

2.01

1.62

4.2

1.5

8.52

0.78

mg/l

0.65

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

137

1.92

1.56

2.1

1.6

24.12

21.52

nmol/l

0.27

113

(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood

2.68

1.50

5.1

2.3

57.87

49.44

—

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

2.29

1.48

3.9

2.5

2.60

10.85

umol/l

—

(3016502) Oxygen saturation in Arterial blood

2.29

1.48

10.6

6.0

95.79

94.22

0.36

(3045424) Erythrocytes [Presence] in Urine

2.90

1.47

2.8

1.5

—

0.00

estimate

—

(3049717) Cytology report of Urine Cyto stain

3.29

1.46

1.4

3.4

—

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

2.38

1.44

1.8

1.4

—

(3020961) Endomysium IgA Ab [Titer] in Serum

2.77

1.40

1.0

1.2

—

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

160

1.79

1.36

2.3

3.0

2296.47

1629.73

ng/l

0.25

133

(3014007) Fractional oxyhemoglobin in Arterial blood

2.54

1.35

10.0

7.4

94.15

94.06

—

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

118

1.86

1.34

1.5

1.3

0.88

2.07

u/ml

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

2.46

1.32

10.0

7.2

0.63

0.75

—

(3026008) Bacteria identified in Urine by Culture

144

1.80

1.32

5.5

2.8

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

2.39

1.29

10.0

6.4

1.66

1.54

—

(40761535) Cells panel - Urine sediment

2.39

1.29

4.4

3.3

—

(3020891) Body temperature

2.33

1.12

6.1

2.9

36.71

36.84

°c

—

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

1.82

1.09

5.0

2.6

606.70

58.60

ng/l

—

(1761868) Lipid panel - Serum or Plasma

201

0.56

1.04

5.3

2.9

—

(3032080) INR in Blood by Coagulation assay

239

1.57

0.96

18.7

10.9

1.43

1.22

inr

0.89

202

(3019060) Gas panel - Arterial blood

2.10

0.89

9.5

3.4

—

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

1.90

0.81

3.0

1.4

0.95

1.21

g/l

—

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

1.81

0.80

3.7

3.9

—

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

1.77

0.79

3.8

1.4

—

(3018405) Lactate [Moles/volume] in Arterial blood

2.08

0.74

5.4

2.3

1.20

1.31

mmol/l

—

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

2.08

0.74

1.2

1.0

—

(3017732) Neutrophils [#/volume] in Blood

1.72

0.74

4.0

3.6

4.12

3.82

e9/l

0.32

(40761536) Microorganisms panel - Urine sediment

1.79

0.72

12.9

3.0

—

(3044640) Blood type and Crossmatch panel - Blood

176

1.47

0.70

3.5

2.2

—

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

215

1.44

0.67

9.0

3.6

0.00

estimate

—

(3008898) HLA-B27 [Presence]

0.00

0.61

0.0

1.1

—

(3018010) Neutrophils/Leukocytes in Blood

248

1.39

0.59

11.5

5.9

56.76

57.53

0.15

238

(3019832) Treponema pallidum Ab [Presence] in Serum

1.55

0.53

3.8

2.0

—

(3013512) EKG study

186

1.37

0.50

3.4

2.9

—

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

245

1.33

0.47

4.3

2.6

—

estimate

—

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

470

1.40

0.45

6.2

4.7

2.13

1.87

mu/l

0.84

426

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

1.61

0.43

1.4

1.3

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.56

0.42

10.8

2.6

—

(3051387) C reactive protein [Mass/volume] in Capillary blood

0.00

0.41

0.0

6.2

—

31.00

—

(3022145) Colonoscopy Study observation

1.42

0.41

1.3

1.2

—

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

1.46

0.40

1.8

1.3

—

(40768797) Stomach Pathology biopsy report

1.44

0.37

1.1

1.3

—

(3000494) Fungus identified in Specimen by Culture

1.44

0.37

1.6

1.3

—

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

1.42

0.35

3.8

1.4

—

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

387

1.24

0.30

8.0

4.0

19.15

11.93

mm/h

1.06

364

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

209

1.24

0.28

2.6

3.6

105.72

52.14

ng/l

0.31

158

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

1.34

0.28

3.6

1.9

—

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

167

0.79

0.25

4.3

4.4

23.18

22.09

—

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

318

0.84

0.23

4.1

2.9

—

(36660697) Celiac disease serology panel - Serum

1.21

0.22

1.0

1.3

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.9

—

6.65

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

3.4

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.20

0.0

1.4

—

(40768793) Breast Pathology biopsy report

0.00

0.20

0.0

1.5

—

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

208

1.16

0.17

4.6

5.0

1.68

2.36

ug/l

0.54

184

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

0.77

0.16

1.7

1.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

160

0.84

0.16

12.6

2.9

0.00

estimate

—

(40760892) CBC W Ordered Manual Differential panel - Blood

126

1.14

0.10

12.2

5.8

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

1.05

0.09

1.4

—

(40761511) CBC panel - Blood by Automated count

529

1.12

0.06

28.6

13.1

—

(40768804) Tissue Pathology biopsy report

222

0.92

0.06

2.2

1.9

—

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

149

1.01

0.00

1.9

1.3

—

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

0.00

0.0

2.2

—

1.21

—

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

0.00

0.0

2.2

—

4.25

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.0

1.0

—

(4062490) Immunoglobulin typing, IgG

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3043453) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.5

—

104.00

—

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

0.00

0.0

2.2

—

105.67

—

(3004451) EKG impression Narrative

0.00

-0.00

0.0

1.2

—

(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain

0.00

-0.00

0.0

1.4

—

(3022756) Ceruloplasmin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

315.20

—

(3007821) Glucose [Moles/volume] in Serum or Plasma --baseline

0.00

-0.00

0.0

1.0

—

10.05

—

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

0.00

-0.00

0.0

1.3

—

(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence

0.00

-0.00

0.0

1.2

—

(3023410) Appearance of Cerebral spinal fluid

0.00

-0.00

0.0

2.6

—

(3000492) Spirometry study

0.92

-0.00

2.2

1.4

—

(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.7

—

(3041423) Sjogrens syndrome-A extractable nuclear 60kD Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

(4268621) Lupus anticoagulant assay

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.0

—

(40768441) Liver Pathology biopsy report

0.00

-0.00

0.0

1.2

—

(3028167) CD3+CD4+ (T4 helper) cells [#/volume] in Blood

0.00

-0.00

0.0

2.6

—

0.48

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.6

—

2.24

—

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

0.00

-0.00

0.0

1.4

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

-0.00

0.0

1.1

—

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH

0.00

-0.00

0.0

1.2

—

(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight

0.00

-0.00

0.0

1.2

—

(4281824) Cell count and differential, peritoneal fluid

0.00

-0.00

0.0

1.0

—

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.7

—

14.68

—

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

0.97

-0.00

1.1

1.3

—

(3035637) Corticotropin [Mass/volume] in Plasma

0.00

-0.00

0.0

2.0

—

20.20

—

(40764126) Parainfluenza virus RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.4

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_AMINOTRANSPORT and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_AMINOTRANSPORT.

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_AMINOTRANSPORT – Disorders of amino-acid transport

GWS hits: 1

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_AMINOTRANSPORT
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	E720
HD_ICD_9	2700
HD_ICD_8	270[1-3]
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E720
COD_ICD_9	2700
COD_ICD_8	270[1-3]
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 amino-acid transport

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