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This is a non-core endpoint: only basic statistics are computed.

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

E4_BRANCHAMINOFATAC

Endpoint definition

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 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

45

6. Filter based on genotype QC (FinnGen only)

45

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

Similar endpoints

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

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 45 22 23
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 58.91 51.02 66.45

-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

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
unit
cases
controls
-log10(p)
N cases
N controls
(3000722) Carnitine free (C0) [Moles/volume] in Serum or Plasma
7
0
+∞
7.48
3.6
0.0
umol/l
32.3
—
—
7
0
(3033882) Carnitine [Moles/volume] in Serum or Plasma
7
0
+∞
7.48
3.4
0.0
umol/l
49.9
—
—
7
0
(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma
24
92
4.45
5.76
2.5
3.2
ng/l
2216.5
1443.1
0.60
19
78
(3000991) Gas panel - Venous blood
15
41
4.99
5.47
23.4
4.6
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
14
37
5.04
5.29
27.1
14.4
mmol/l
24.4
24.9
0.22
14
37
(42870588) Differential panel, method unspecified - Blood
27
127
3.81
4.61
9.8
7.9
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
17
60
3.95
4.38
3.9
2.7
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
20
88
3.29
3.61
5.0
2.5
—
—
—
0
0
(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay
7
11
7.29
3.32
3.6
6.6
%
181.4
195.7
—
7
11
(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay
7
11
7.29
3.32
3.1
6.4
g/l
2.9
3.0
—
7
11
(3013650) Neutrophils [#/volume] in Blood by Automated count
34
217
3.32
3.08
12.0
10.9
e9/l
3.3
3.8
0.60
28
185
(3001604) Monocytes [#/volume] in Blood
31
188
3.09
3.07
5.5
7.1
e9/l
0.5
0.5
0.04
26
162
(3006315) Basophils [#/volume] in Blood
31
189
3.06
3.02
7.0
7.1
e9/l
0.0
0.0
0.20
26
162
(3002032) Base excess in Venous blood by calculation
13
49
3.32
2.93
26.1
7.8
mmol/l
1.4
1.9
0.27
13
33
(3013115) Eosinophils [#/volume] in Blood
31
193
2.95
2.84
9.1
8.1
e9/l
0.2
0.2
0.47
26
165
(40758558) Short blood count panel - Blood
20
100
2.80
2.76
10.9
8.3
—
—
—
0
0
(3019198) Lymphocytes [#/volume] in Blood
31
195
2.90
2.75
6.8
7.4
e9/l
1.8
2.0
0.62
26
173
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
14
58
3.05
2.69
8.3
2.9
ng/l
23.3
349.0
—
9
42
(36304419) Bacteria [Presence] in Urine
19
94
2.77
2.66
4.5
2.4
—
—
—
0
0
(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma
28
171
2.69
2.57
6.0
6.4
umol/l
16.0
11.8
0.71
23
162
(3030467) Casts [#/volume] in Urine by Automated count
19
97
2.66
2.48
4.7
2.4
e6/l
0.2
0.2
0.05
13
73
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
21
117
2.49
2.26
2.3
1.8
pmol/l
107.2
97.3
—
10
59
(3002582) Erythrocytes [#/volume] in Urine
20
112
2.41
2.10
5.4
2.7
e6/l
16.4
14.5
0.11
15
86
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
22
131
2.33
1.99
4.3
4.2
—
—
—
0
0
(3018095) Leukocytes [#/volume] in Urine
22
132
2.30
1.95
7.1
3.3
e6/l
69.6
42.5
0.22
15
91
(3000067) Parathyrin.intact [Mass/volume] in Serum or Plasma
8
29
3.13
1.90
10.3
1.6
ng/l
114.7
67.3
—
8
24
(3025839) Triglyceride [Moles/volume] in Serum or Plasma
14
69
2.49
1.90
1.5
1.4
mmol/l
1.4
1.3
0.23
14
60
(3000850) Epithelial cells [#/volume] in Urine
14
73
2.33
1.66
2.4
2.2
e6/l
2.5
4.9
1.48
14
64
(3022313) Gas panel - Capillary blood
7
26
2.99
1.66
42.1
7.0
—
—
—
0
0
(3022145) Colonoscopy Study observation
8
33
2.72
1.63
1.4
1.2
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
18
106
2.16
1.61
2.3
2.3
—
—
—
0
0
(3004490) Bicarbonate [Moles/volume] standard in Capillary blood
7
27
2.88
1.59
38.3
6.7
mmol/l
22.8
24.5
—
7
27
(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma
27
187
2.11
1.58
4.0
3.4
u/l
33.2
43.3
0.76
27
175
(3021589) Normoblasts [#/volume] in Blood
25
172
2.02
1.45
8.2
11.6
e9/l
0.0
0.0
0.00
18
138
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
5
18
2.99
1.32
3.4
6.1
—
—
—
0
0
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
11
58
2.19
1.25
6.8
2.4
e6/l
1.8
2.9
—
5
35
(3037467) Urinalysis macro (dipstick) panel - Urine
29
222
1.86
1.12
5.6
4.1
—
—
—
0
0
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
5
21
2.55
1.12
2.0
1.7
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
19
128
1.84
1.10
5.4
2.6
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
9
49
2.04
1.07
2.2
1.6
—
—
—
0
0
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
34
281
1.86
0.94
25.3
11.8
ml/min/173m2
77.0
81.8
0.53
28
209
(3017143) Hepatitis C virus Ab [Presence] in Serum
6
30
2.15
0.91
2.2
1.7
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
7
40
1.89
0.75
1.9
1.5
—
—
—
0
0
(3022217) INR in Platelet poor plasma by Coagulation assay
7
40
1.89
0.75
44.0
19.7
—
1.6
—
0
6
(21494755) Public health laboratory ask at order entry panel
5
25
2.12
0.75
1.0
1.3
—
—
—
0
0
(3002385) Erythrocyte distribution width [Ratio]
35
301
1.73
0.73
43.9
16.7
%
13.8
13.6
0.25
35
296
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
5
29
1.81
0.66
2.4
3.2
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
14
99
1.60
0.64
6.0
4.0
—
—
—
0
0
(3003785) Carcinoembryonic Ag [Mass/volume] in Serum or Plasma
5
30
1.75
0.63
5.6
3.5
ug/l
1.5
2.8
—
5
25
(3000492) Spirometry study
6
34
1.88
0.61
1.8
1.3
—
—
—
0
0
(3009508) Creatinine [Moles/volume] in Urine
13
93
1.56
0.56
3.6
2.8
mmol/l
8.2
8.4
0.05
13
79
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
6
39
1.62
0.55
2.3
1.8
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
6
39
1.62
0.55
2.3
1.6
—
—
—
0
0
(3044889) 12 lead EKG panel
26
218
1.46
0.52
5.0
3.7
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
7
46
1.62
0.51
1.3
1.2
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
7
48
1.54
0.50
2.1
1.7
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
14
107
1.45
0.44
5.8
2.9
—
—
—
0
0
(3010726) Horse dander IgE Ab [Units/volume] in Serum
0
15
0.00
0.42
0.0
1.1
—
7.5
—
0
6
(3027944) Amphetamines [Presence] in Urine
0
18
0.00
0.41
0.0
1.8
—
—
—
0
0
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
0
18
0.00
0.41
0.0
1.7
—
—
—
0
0
(3023351) European house dust mite IgE Ab [Units/volume] in Serum
0
18
0.00
0.41
0.0
1.1
—
4.4
—
0
10
(3002256) Pathology report gross observation
5
35
1.48
0.41
1.0
1.3
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
35
318
1.45
0.39
40.3
14.7
%
38.6
39.0
0.19
29
235
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
11
142
0.70
0.38
4.5
3.6
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
6
89
0.62
0.37
1.8
2.7
—
—
—
0
0
(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma
11
87
1.35
0.27
2.9
2.6
mg/l
1.9
3.2
1.92
11
80
(3007164) IgA [Mass/volume] in Serum or Plasma
12
97
1.32
0.26
1.6
1.4
g/l
1.3
1.9
—
7
48
(36660697) Celiac disease serology panel - Serum
5
37
1.39
0.24
1.0
1.3
—
—
—
0
0
(3020564) Creatinine [Moles/volume] in Serum or Plasma
37
347
1.37
0.24
30.0
14.4
umol/l
76.2
73.3
0.23
37
347
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
5
38
1.35
0.24
2.2
1.7
—
—
—
0
0
(40768443) Skin Pathology biopsy report
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
(3014133) Dog dander IgE Ab [Units/volume] in Serum
0
11
0.00
0.21
0.0
1.1
—
7.8
—
0
5
(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
(4034850)
0
13
0.00
0.21
0.0
21.8
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
6
52
1.18
0.20
2.3
1.7
—
—
—
0
0
(3013512) EKG study
8
98
0.78
0.15
5.3
3.4
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
10
85
1.23
0.14
3.5
3.2
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
8
74
1.10
0.08
1.9
1.7
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
9
86
1.06
0.07
1.3
1.4
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
10
94
1.08
0.01
4.7
3.4
—
—
—
0
0
(3015736) pH of Urine
13
136
0.94
0.01
3.3
3.2
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
24
244
0.96
0.00
2.6
3.1
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
36
362
0.97
0.00
28.1
11.3
—
—
—
0
0
(3018301) Testosterone Free [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3038177) Helicobacter pylori Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3033705) Calcium.ionized [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
3.4
—
—
—
0
0
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
(3006442) Creatine [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.0
—
96.8
—
0
5
(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3006598) pH of Arterial cord blood
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3032035) Polymorphonuclear cells/100 leukocytes in Blood
0
7
0.00
0.00
0.0
5.3
—
56.4
—
0
7
(3030905) Polymorphonuclear cells [#/volume] in Blood
0
7
0.00
0.00
0.0
5.3
—
3.8
—
0
7
(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3035285) Chloride [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
3.4
—
107.4
—
0
5
(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3016650) Hepatitis A virus Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3021788) Differential panel - Synovial fluid
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3025018) Bordetella pertussis Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3025245) SCL-70 extractable nuclear Ab [Units/volume] in Serum by Immunoassay
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3018993) Complement total hemolytic CH100 [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3026389) Candida sp identified in Specimen by Organism specific culture
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3045414) Leukocytes [Presence] in Urine
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
(3004959) Base excess in Arterial cord blood by calculation
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3003932) Carbon dioxide [Partial pressure] in Arterial cord blood
0
5
0.00
0.00
0.0
1.0
—
7.8
—
0
5
(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
1.3
—
60.0
—
0
8
(3041354) Potassium [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
3.4
—
3.9
—
0
5
(3044941) Cell count panel - Synovial fluid
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3023939) Sjogrens syndrome-A extractable nuclear Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3042111) Morphology [Interpretation] in Bone marrow Narrative
0
6
0.00
0.00
0.0
2.3
—
—
—
0
0
(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3023511) Choriogonadotropin [Units/volume] in Urine
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(44813793)
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3041008) Bicarbonate [Moles/volume] standard in Arterial cord blood
0
6
0.00
0.00
0.0
1.0
—
19.6
—
0
6
(3023150) Myeloperoxidase Ab [Units/volume] in Serum
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(42870560) Thyrotropin [Units/volume] in Cord blood
0
8
0.00
0.00
0.0
1.0
—
7.3
—
0
8
(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3050238) Crystals [Presence] in Synovial fluid by Light microscopy
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3005570) Glucose [Moles/volume] in Urine
0
5
0.00
0.00
0.0
3.2
—
—
—
0
0
(3013327) Hepatitis A virus IgM Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
152.3
—
0
5
(40768793) Breast Pathology biopsy report
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3035933) Granulocytes/100 leukocytes in Blood
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3002670) Multiple inhalant allergen IgE Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3050129) First trimester maternal screen panel - Serum or Plasma
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay
0
6
0.00
0.00
0.0
4.7
—
37.3
—
0
6

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
FinnGen
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