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	519972
1. Apply sex-specific rule None	519972
2. Check conditions None	519972
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	48
6. Filter based on genotype QC (FinnGen only)	44

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	44	22	22
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	60.87	51.02	70.73

-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

↥

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

↥

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

+∞

7.47

3.6

0.0

32.29

—

umol/l

—

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

+∞

7.47

3.4

0.0

49.86

—

umol/l

—

(3000991) Gas panel - Venous blood

4.87

5.43

23.4

4.6

—

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

101

3.75

4.81

2.5

3.1

2216.49

1371.04

ng/l

0.68

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

4.63

4.15

27.1

13.8

24.44

24.92

mmol/l

0.24

(36304419) Bacteria [Presence] in Urine

3.26

3.81

4.5

2.4

—

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

3.38

3.61

2.6

2.7

312.12

339.94

umol/l

0.65

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

102

3.14

3.59

4.6

2.4

0.20

e6/l

0.00

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

3.27

3.43

3.9

2.6

—

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

7.23

3.31

3.6

6.6

181.43

195.73

—

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

124

2.87

3.15

2.2

1.9

107.24

97.54

pmol/l

—

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

6.61

3.14

3.1

6.0

2.93

2.89

g/l

—

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

3.18

3.06

7.9

3.0

21.80

344.70

ng/l

—

(3002582) Erythrocytes [#/volume] in Urine

121

2.73

2.86

5.2

2.6

15.27

15.25

e6/l

0.00

(3044640) Blood type and Crossmatch panel - Blood

2.78

2.84

5.0

2.5

—

(3002032) Base excess in Venous blood by calculation

3.19

2.81

26.1

7.7

1.36

1.98

mmol/l

0.35

(3018095) Leukocytes [#/volume] in Urine

139

2.67

2.77

6.8

3.3

61.83

40.47

e6/l

0.19

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

236

2.78

2.55

11.7

3.34

3.77

e9/l

0.61

205

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

2.70

2.42

2.5

2.3

2.42

5.23

e6/l

1.73

(3001604) Monocytes [#/volume] in Blood

203

2.49

2.31

5.5

7.6

0.53

0.54

e9/l

0.09

177

(3006315) Basophils [#/volume] in Blood

204

2.47

2.27

7.0

7.6

0.04

e9/l

0.12

177

(40758558) Short blood count panel - Blood

108

2.46

2.26

10.9

8.7

—

(3052851) Hemolysis interference index of Serum or Plasma

5.43

2.12

1.2

2.5

—

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

189

2.35

2.12

6.0

6.7

15.63

11.49

umol/l

0.74

179

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

2.87

2.11

4.5

9.4

104.27

105.22

mmol/l

0.37

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

2.53

2.08

1.5

1.4

1.51

1.24

mmol/l

0.63

(3013115) Eosinophils [#/volume] in Blood

209

2.36

2.08

9.1

8.4

0.15

0.17

e9/l

0.44

181

(3019198) Lymphocytes [#/volume] in Blood

210

2.34

2.04

6.8

7.8

1.77

1.99

e9/l

0.56

188

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

2.46

1.80

6.4

2.3

1.50

2.66

e6/l

—

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

2.79

1.68

10.3

1.6

114.65

64.43

ng/l

—

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

139

2.08

1.62

5.2

2.6

—

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

150

2.02

1.54

3.6

2.8

—

(40760892) CBC W Ordered Manual Differential panel - Blood

192

1.93

1.37

10.0

8.5

—

(3037467) Urinalysis macro (dipstick) panel - Urine

241

1.98

1.37

5.4

4.0

—

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

2.98

1.32

3.4

6.8

—

(3022145) Colonoscopy Study observation

2.39

1.29

1.4

1.2

—

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

2.13

1.27

5.8

2.0

0.20

0.87

e6/l

—

(3022313) Gas panel - Capillary blood

2.55

1.18

42.1

6.3

—

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

2.55

1.18

38.3

6.2

22.77

24.60

mmol/l

—

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

202

1.77

1.08

4.0

3.4

33.22

44.52

u/l

0.86

189

(3021589) Normoblasts [#/volume] in Blood

184

1.75

1.05

8.2

11.7

0.00

0.01

e9/l

0.50

149

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

307

1.90

1.01

23.7

11.7

77.79

81.93

ml/min/173m2

0.46

234

(40768804) Tissue Pathology biopsy report

124

1.72

0.93

2.3

2.2

—

(3002385) Erythrocyte distribution width [Ratio]

325

1.81

0.85

41.5

16.8

14.51

14.43

0.03

320

(40768797) Stomach Pathology biopsy report

1.80

0.83

1.3

1.2

—

(3000492) Spirometry study

1.93

0.82

1.8

1.3

—

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

1.93

0.82

2.2

1.6

—

(3042936) Bacteria identified in Isolate by Culture

1.82

0.80

2.2

1.6

—

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

1.84

0.79

2.7

3.2

0.71

0.72

ug/l

—

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

2.31

0.79

2.0

1.7

—

(36660697) Celiac disease serology panel - Serum

1.98

0.78

1.0

1.3

—

(21494755) Public health laboratory ask at order entry panel

2.03

0.73

1.0

1.3

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.69

0.68

1.9

1.5

—

(3044889) 12 lead EKG panel

230

1.52

0.66

4.7

3.7

—

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

1.68

0.64

2.0

1.7

—

(3009508) Creatinine [Moles/volume] in Urine

1.59

0.61

3.6

2.7

8.22

8.46

mmol/l

0.05

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

0.00

0.61

0.0

1.7

—

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

100

1.56

0.60

1.5

1.4

1.29

1.91

g/l

—

(1761868) Lipid panel - Serum or Plasma

0.58

0.60

1.8

2.7

—

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

371

1.72

0.57

27.4

13.5

17.95

21.83

mg/l

0.69

284

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

152

0.64

0.56

4.5

3.6

—

(3002256) Pathology report gross observation

1.57

0.54

1.0

1.3

—

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

1.63

0.44

2.4

3.2

—

(3023368) Bacteria identified in Blood by Culture

107

1.44

0.43

6.0

4.1

—

(3026008) Bacteria identified in Urine by Culture

117

1.41

0.42

5.5

3.0

—

(4034850) Laboratory test

0.00

0.42

0.0

19.9

—

(3023351) European house dust mite IgE Ab [Units/volume] in Serum

0.00

0.40

0.0

1.1

—

5.01

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.40

0.0

1.8

—

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

1.43

0.39

5.6

4.0

1.50

3.10

ug/l

—

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

1.35

0.34

2.3

1.7

—

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

1.35

0.34

2.3

1.5

—

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

374

1.42

0.33

28.2

14.7

75.70

72.88

umol/l

0.24

374

(3013512) EKG study

105

0.71

0.33

5.3

3.3

—

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

1.32

0.25

3.3

3.1

—

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

1.31

0.24

1.8

—

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

1.21

0.22

2.2

1.6

—

(40768443) Skin Pathology biopsy report

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.2

—

60.30

—

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

0.00

0.21

0.0

1.3

—

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

1.29

0.21

2.9

2.5

1.92

3.15

mg/l

1.91

(3025245) SCL-70 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.21

0.0

1.2

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.21

0.0

1.0

—

(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum

0.00

0.21

0.0

1.2

—

(3015736) pH of Urine

154

0.87

0.10

3.1

—

5.97

—

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

259

1.10

0.06

2.5

3.1

—

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

1.08

0.01

1.3

1.4

—

(3009542) Hematocrit [Volume Fraction] of Blood

416

1.08

0.00

40.4

20.0

39.32

39.69

0.19

395

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

0.00

-0.00

0.0

1.3

—

82.71

—

(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.2

—

(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

96.80

—

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

0.00

-0.00

0.0

6.0

—

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

0.00

-0.00

0.0

1.0

—

7.32

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.2

—

3.68

—

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

0.00

-0.00

0.0

1.7

—

(44813793) Dust mix specific IgE antibody measurement

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

0.00

-0.00

0.0

4.4

—

56.56

—

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

0.00

-0.00

0.0

1.2

—

152.32

—

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

0.00

-0.00

0.0

3.4

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.2

—

(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

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

1.02

-0.00

1.9

1.7

—

(3005570) Glucose [Moles/volume] in Urine

0.00

-0.00

0.0

2.8

—

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

0.00

-0.00

0.0

1.1

—

251.29

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.0

—

(3044941) Cell count panel - Synovial fluid

0.00

-0.00

0.0

1.4

—

(3013327) Hepatitis A virus IgM Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(3016650) Hepatitis A virus Ab [Presence] in Serum

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

6.0

—

(3041096) Erythrocytes [Presence] in Urine by Automated

100

1.00

-0.00

4.7

3.5

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

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

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

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

-0.00

0.0

2.9

—

(3045414) Leukocytes [Presence] in Urine

0.00

-0.00

0.0

1.3

—

(3006598) pH of Arterial cord blood

0.00

-0.00

0.0

1.0

—

(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

3.8

—

(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

(40759836) Histone Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.0

—

(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.6

—

(3041067) Sjogrens syndrome-A extractable nuclear 52kD Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

4.4

—

3.68

—

(3004959) Base excess in Arterial cord blood by calculation

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.1

—

(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

4.7

—

37.28

—

(40768793) Breast Pathology biopsy report

0.00

-0.00

0.0

1.3

—

(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.0

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

-0.00

0.0

1.5

—

(3023939) Sjogrens syndrome-A extractable nuclear Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.4

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

-0.00

0.0

1.0

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

1.0

—

19.65

—

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

0.00

-0.00

0.0

1.1

—

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

0.00

-0.00

0.0

1.1

—

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

1.00

-0.00

2.3

1.7

—

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

0.00

-0.00

0.0

2.8

—

14.20

—

(3002670) Multiple inhalant allergen IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

3.4

—

107.40

—

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

0.00

-0.00

0.0

3.4

—

3.90

—

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

0.00

-0.00

0.0

1.2

—

(3021788) Differential panel - Synovial fluid

0.00

-0.00

0.0

1.3

—

(40761511) CBC panel - Blood by Automated count

389

1.01

-0.00

26.2

11.6

—

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

0.00

-0.00

0.0

1.0

—

7.82

—

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

0.00

-0.00

0.0

1.5

—

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

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

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints