Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism

E4_BRANCHAMINOFATAC

No definition available.

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

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 — E71 Cause of death: ICD-10 — E71 2 out of 7 registries used, show all original rules.	-
4. Check minimum number of events None	-
5. Include endpoints E4_MAPLESYRUP E4_BRANCHAMINONAS E4_FATTYACID	64
6. Filter based on genotype QC (FinnGen only)	54

Control definitions (FinnGen only)

Control exclude: E4_METABOLIA

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: E70-E90
Name in latin: Perturbationes metabolismi acidorum aminoicorum cum catenis ramosis et acidorum lipidicorum

NAME	E4_BRANCHAMINOFATAC
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE	E4_MAPLESYRUP\|E4_BRANCHAMINONAS\|E4_FATTYACID
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E71
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E71
COD_ICD_9
COD_ICD_8
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

Similar endpoints

↥

List of similar endpoints to Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism based on the number of shared cases.

Similar with more cases:

Similar with less cases:

Case counts by codes

↥

FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	385	180	205
Only index persons	278	139	139
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	-	28.25	29.73
Only index persons	37.55	38.78	36.31

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	54	30	24
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	60.75	54.95	68.00

-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
59: Matched controls
590

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

E71.3

ICD-10 Finland

Disorders of fatty-acid metabolism

+∞

48.9

E71.2

ICD-10 Finland

Disorder of branched-chain amino-acid metabolism, unspecified

+∞

8.5

XF400

NOMESCO Finland

ECG with 12 standard connections

5.1

8.0

R4110

NOMESCO Finland

Physiotherapy

4.5

7.5

104

503

Kela drug reimbursment

Inborn metabolic disorders

+∞

7.4

Z2221

NOMESCO Finland

Medical doctor

4.4

7.1

Z3226

NOMESCO Finland

Physiotherapist

4.6

7.1

G72.9

ICD-10 Finland

Myopathy, unspecified

45.4

6.9

R4190

NOMESCO Finland

Nutritional therapy

11.2

6.7

E71.0

ICD-10 Finland

Maple-syrup-urine disease

+∞

6.4

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3000722) Carnitine free (C0) [Moles/volume] in Serum or Plasma

+∞

10.73

3.3

0.0

30.00

—

umol/l

—

(3033882) Carnitine [Moles/volume] in Serum or Plasma

+∞

10.73

3.2

0.0

43.20

—

umol/l

—

(3000991) Gas panel - Venous blood

5.24

7.40

26.5

7.4

—

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

128

4.28

7.11

2.7

3.1

1634.09

1154.19

ng/l

0.47

109

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

5.19

7.06

29.7

17.2

24.68

25.41

mmol/l

0.45

(3004789) Transferrin [Mass/volume] in Serum or Plasma

3.85

5.46

4.5

1.7

2.53

2.40

g/l

0.39

(42870588) Differential panel, method unspecified - Blood

181

3.54

5.30

9.0

8.1

—

(36304419) Bacteria [Presence] in Urine

125

3.36

4.91

4.9

2.8

—

estimate

—

(3030467) Casts [#/volume] in Urine by Automated count

132

3.13

4.39

5.0

2.8

0.45

0.23

e6/l

0.31

(3018418) pH of Serum or Plasma

135

3.04

4.19

7.7

2.7

7.40

0.09

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

3.32

4.18

5.3

2.8

6.00

2.46

e6/l

—

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

3.20

4.05

6.8

2.9

32.86

664.78

ng/l

0.88

(3012544) pH of Venous blood

3.29

3.58

22.9

8.7

7.35

7.38

—

(3001604) Monocytes [#/volume] in Blood

270

2.93

3.48

5.6

7.7

0.53

0.54

e9/l

0.15

235

(3006315) Basophils [#/volume] in Blood

270

2.93

3.48

6.7

7.8

0.04

e9/l

0.26

233

(3002032) Base excess in Venous blood by calculation

3.23

3.48

22.8

8.6

1.66

1.58

mmol/l

0.03

(3019977) pH of Arterial blood

3.43

3.47

10.9

7.1

7.42

7.41

—

(3013650) Neutrophils [#/volume] in Blood by Automated count

301

3.09

3.45

10.4

11.9

3.25

3.74

e9/l

1.04

263

(3003396) Base excess in Arterial blood by calculation

3.36

10.9

6.9

0.13

0.91

mmol/l

—

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

3.77

3.33

27.5

11.4

24.54

23.84

mmol/l

0.49

(3019198) Lymphocytes [#/volume] in Blood

278

2.77

3.15

6.6

7.9

1.80

1.95

e9/l

0.46

249

(3013115) Eosinophils [#/volume] in Blood

280

2.74

3.08

8.3

0.17

0.18

e9/l

0.11

246

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

2.78

3.05

4.9

2.5

1.00

0.81

e6/l

—

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

2.71

2.98

2.5

2.7

319.90

342.37

umol/l

0.55

(3024928) Oxygen saturation in Venous blood

7.26

2.94

2.2

36.1

61.00

70.56

—

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

256

2.54

2.87

6.5

7.3

12.64

11.26

umol/l

0.28

244

(3024354) Oxygen [Partial pressure] in Venous blood

3.03

2.86

23.4

9.3

4.96

4.72

kpa

0.23

(3002582) Erythrocytes [#/volume] in Urine

167

2.45

2.83

5.5

2.9

21.52

22.14

e6/l

0.02

127

(3018095) Leukocytes [#/volume] in Urine

193

2.44

2.82

7.3

3.6

120.94

36.29

e6/l

0.63

128

(1616796) Gas panel - Central venous blood

8.95

2.80

6.0

2.5

—

(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

5.14

2.68

1.1

1.7

—

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

4.45

2.67

3.0

5.1

3.00

3.05

g/l

—

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

100

2.51

2.60

3.9

2.9

—

(3028626) Oxygen [Partial pressure] in Capillary blood

3.43

2.50

27.7

6.5

8.97

9.12

kpa

—

(3035637) Corticotropin [Mass/volume] in Plasma

6.70

2.42

1.6

2.8

16.80

61.33

ng/l

—

(3019230) Fractional oxyhemoglobin in Venous blood

6.70

2.42

2.2

39.5

65.20

69.38

—

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

203

2.26

2.40

2.5

1.9

93.29

98.18

pmol/l

0.20

102

(3004588) Protein electrophoresis panel - Serum or Plasma

3.47

2.34

1.2

1.5

—

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

4.26

2.33

3.9

5.4

178.00

185.72

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

5.95

2.26

2.4

1.3

—

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

174

2.16

2.15

5.5

2.9

—

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

5.34

2.11

2.4

1.3

—

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

5.34

2.11

1.2

1.1

—

(36660697) Celiac disease serology panel - Serum

2.70

2.11

1.2

1.3

—

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

112

2.19

1.96

2.8

2.3

1.77

1.70

mg/l

0.03

(3044640) Blood type and Crossmatch panel - Blood

137

2.11

1.93

5.1

2.7

—

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

4.44

1.86

1.0

1.3

—

(40760892) CBC W Ordered Manual Differential panel - Blood

126

0.34

1.77

4.2

5.5

—

(3022313) Gas panel - Capillary blood

2.82

1.73

37.8

6.4

—

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

205

1.94

1.68

3.7

3.2

—

estimate

—

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

2.24

1.58

14.5

11.1

105.15

105.05

mmol/l

0.04

(3021589) Normoblasts [#/volume] in Blood

237

1.89

1.56

10.6

12.9

0.00

0.01

e9/l

0.50

187

(3000850) Epithelial cells [#/volume] in Urine

105

2.03

1.56

3.1

2.4

3.05

5.74

e6/l

1.39

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

3.06

1.55

1.0

1.3

—

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

2.47

1.48

9.4

1.8

109.36

76.31

ng/l

—

(3014007) Fractional oxyhemoglobin in Arterial blood

2.60

1.44

19.4

9.0

93.00

94.02

—

(3023420) DNA double strand Ab [Units/volume] in Serum

3.11

1.39

1.8

1.7

—

9.08

—

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

127

1.87

1.34

1.6

1.5

1.41

2.05

g/l

1.55

(3032080) INR in Blood by Coagulation assay

207

1.79

1.34

21.7

11.6

1.34

1.23

inr

0.37

174

(40758558) Short blood count panel - Blood

164

1.78

1.27

9.7

7.4

—

(3002256) Pathology report gross observation

2.14

1.27

1.4

1.3

—

(3037467) Urinalysis macro (dipstick) panel - Urine

329

1.81

1.23

6.1

4.0

—

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

122

1.82

1.22

3.4

3.3

—

(3023368) Bacteria identified in Blood by Culture

131

1.80

1.21

6.0

4.4

—

(40768804) Tissue Pathology biopsy report

167

1.74

1.18

2.7

2.0

—

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

2.51

1.17

2.0

1.5

—

(3004490) Bicarbonate [Moles/volume] standard in Capillary blood

2.42

1.15

38.9

6.3

22.77

24.44

mmol/l

—

(3026008) Bacteria identified in Urine by Culture

154

1.68

1.04

5.0

2.9

—

(3022145) Colonoscopy Study observation

1.94

1.02

1.4

1.2

—

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

173

1.65

1.01

2.2

1.7

1.42

1.35

mmol/l

0.19

146

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

270

1.61

0.96

4.4

3.6

0.00

estimate

—

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

428

1.85

0.95

25.7

13.3

82.49

82.13

ml/min/173m2

0.04

382

(21494755) Public health laboratory ask at order entry panel

2.04

0.93

1.3

1.4

—

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

124

1.65

0.89

1.2

1.5

—

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

1.87

0.86

1.8

—

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

266

1.55

0.84

4.4

3.5

0.00

estimate

—

(40768797) Stomach Pathology biopsy report

1.76

0.78

1.3

1.2

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

2.28

0.78

2.2

15.6

1.18

1.57

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.28

0.78

2.6

2.2

—

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

269

1.51

0.78

4.5

3.5

0.00

estimate

—

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

1.80

0.78

1.8

1.7

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

2.18

0.76

2.2

14.9

0.50

0.63

—

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

218

0.63

0.76

4.9

3.3

0.00

estimate

—

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

1.70

0.75

1.8

—

(3042936) Bacteria identified in Isolate by Culture

1.70

0.71

2.2

1.7

—

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

323

1.50

0.70

2.4

3.3

—

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

1.71

0.69

5.4

3.0

—

(3020460) C reactive protein [Mass/volume] in Serum or Plasma

477

1.76

0.66

29.3

14.9

21.60

21.49

mg/l

0.01

375

(3019060) Gas panel - Arterial blood

1.79

0.65

2.4

3.4

—

(3000492) Spirometry study

1.66

0.64

1.6

1.3

—

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

1.66

0.64

1.9

1.6

—

(4034850) Laboratory test

0.00

0.61

0.0

16.8

—

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

1.64

0.56

1.0

—

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

1.53

0.50

1.7

1.8

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

1.55

0.50

1.6

1.4

—

(3015736) pH of Urine

216

1.36

0.49

3.4

3.1

6.38

6.28

—

117

(40768793) Breast Pathology biopsy report

0.00

0.42

0.0

1.3

—

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

0.00

0.42

0.0

1.1

—

0.91

—

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

173

1.33

0.41

5.1

3.4

27.05

36.49

ng/l

0.32

113

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

1.40

0.40

2.0

1.6

—

(4035726) Immunohistochemistry procedure

1.47

0.40

1.4

—

(1761868) Lipid panel - Serum or Plasma

152

0.74

0.35

2.3

3.0

—

(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection

1.31

0.31

1.9

2.2

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.28

0.31

2.0

1.6

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.65

0.28

1.4

1.8

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.5

—

(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.0

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

0.21

0.0

3.4

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.0

—

(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.4

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

0.00

0.21

0.0

1.6

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.4

—

(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection

1.25

0.21

1.7

2.0

—

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

162

0.82

0.19

5.1

3.6

0.00

estimate

—

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

109

1.13

0.07

1.8

1.9

—

(3041096) Erythrocytes [Presence] in Urine by Automated

148

0.93

0.03

5.2

3.0

0.00

estimate

—

(40761511) CBC panel - Blood by Automated count

497

0.92

0.02

24.0

12.1

—

(3000494) Fungus identified in Specimen by Culture

0.88

0.00

1.5

1.3

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

-0.00

0.0

1.0

—

31.60

—

(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.2

—

(3005033) Fetal Nuchal fold Thickness US

0.00

-0.00

0.0

1.6

—

1.31

—

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

1.03

-0.00

1.4

1.5

—

(44813793) Dust mix specific IgE antibody measurement

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.6

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

5.6

—

35.24

—

(3021788) Differential panel - Synovial fluid

0.00

-0.00

0.0

1.3

—

(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay

0.00

-0.00

0.0

1.0

—

92.67

—

(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.2

—

(3042810) Amyloid beta 42 peptide [Mass/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

594.40

—

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

0.00

-0.00

0.0

1.7

—

53.37

—

(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.1

—

(3041008) Bicarbonate [Moles/volume] standard in Arterial cord blood

0.00

-0.00

0.0

1.0

—

19.65

—

(3044941) Cell count panel - Synovial fluid

0.00

-0.00

0.0

1.3

—

(3026389) Candida sp identified in Specimen by Organism specific culture

0.00

-0.00

0.0

1.1

—

(40758897) Direct antiglobulin test.IgG specific reagent [Presence] on Red Blood Cells

0.00

-0.00

0.0

6.0

—

(44806420) Estimation of glomerular filtration rate

0.00

-0.00

0.0

2.0

—

(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method

0.00

-0.00

0.0

2.1

—

(3004959) Base excess in Arterial cord blood by calculation

0.00

-0.00

0.0

1.0

—

(3005570) Glucose [Moles/volume] in Urine

0.00

-0.00

0.0

2.8

—

(3023419) Bacteria identified in Sputum by Culture

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.8

—

(3006598) pH of Arterial cord blood

0.00

-0.00

0.0

1.0

—

(3003932) Carbon dioxide [Partial pressure] in Arterial cord blood

0.00

-0.00

0.0

1.0

—

7.82

—

(3025130) Human papilloma virus identified in Specimen

0.00

-0.00

0.0

2.0

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

-0.00

0.0

1.0

—

(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.4

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

-0.00

0.0

1.7

—

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

0.00

-0.00

0.0

1.2

—

218.83

—

(3003785) Carcinoembryonic Ag [Mass/volume] in Serum or Plasma

1.02

-0.00

6.4

4.3

1.48

9.21

ug/l

—

(3006442) Creatine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.3

—

81.50

—

(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.2

—

(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

-0.00

0.0

1.2

—

(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

152.32

—

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

0.00

-0.00

0.0

1.6

—

(3010838) Calcium [Moles/time] in 24 hour Urine

0.00

-0.00

0.0

1.2

—

3.68

—

(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count

0.00

-0.00

0.0

3.8

—

0.40

—

(42870560) Thyrotropin [Units/volume] in Cord blood

0.00

-0.00

0.0

1.0

—

7.32

—

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

0.00

-0.00

0.0

4.0

—

90.67

—

(3000242) Tau protein [Mass/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

367.20

—

(43055225) Phosphorylated tau 181 [Mass/volume] in Cerebral spinal fluid by Immunoassay

0.00

-0.00

0.0

1.0

—

48.36

—

(40758895) Direct antiglobulin test.complement C3d specific reagent [Presence] on Red Blood Cells

0.00

-0.00

0.0

6.0

—

(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

2.4

—

2.10

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

-0.00

0.0

1.0

—

(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_BRANCHAMINOFATAC and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_BRANCHAMINOFATAC.

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_BRANCHAMINOFATAC – Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism

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

Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism

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