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

Disorders of branched-chain amino-acid metabolism, other/unspecified

E4_BRANCHAMINONAS

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 E71.1, E71.2
  • Hospital discharge: ICD-9 2703
  • Cause of death: ICD-10 E71.1, E71.2
  • Cause of death: ICD-9 2703

2 out of 7 registries used, show all original rules.

13

4. Check minimum number of events

None

13

5. Include endpoints

None

13

6. Filter based on genotype QC (FinnGen only)

13

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2

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 105 43 62
Only index persons 78 35 43
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 - 34.95 47.57
Only index persons 42.72 34.95 49.04

-FinnGen-

Key figures

All Female Male
Number of individuals 13 - 9
Unadjusted period prevalence (%) 0.00 - 0.00
Median age at first event (years) 45.80 - 37.34

-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
(3018677) aPTT in Platelet poor plasma by Coagulation assay
5
11
6.61
2.16
1.6
6.7
s
32.0
30.5
—
5
11
(3026493) Urate [Moles/volume] in Serum or Plasma
5
14
5.09
1.80
2.2
6.1
umol/l
318.4
328.6
—
5
9
(3004789) Transferrin [Mass/volume] in Serum or Plasma
5
18
3.84
1.43
1.4
1.2
g/l
2.6
2.5
—
5
18
(3022948) Iron [Moles/volume] in Serum or Plasma
5
20
3.40
1.28
1.8
1.5
umol/l
14.3
19.8
—
5
20
(40760892) CBC W Ordered Manual Differential panel - Blood
0
24
0.00
0.90
0.0
3.5
—
—
—
0
0
(3009508) Creatinine [Moles/volume] in Urine
5
23
2.88
0.88
2.0
3.4
mmol/l
7.6
8.4
—
5
17
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
5
26
2.48
0.81
4.8
3.2
ng/l
22.9
32.4
—
5
19
(42870588) Differential panel, method unspecified - Blood
7
46
2.12
0.63
3.7
14.3
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
7
48
1.98
0.61
5.1
3.4
—
0.0
—
0
7
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
5
31
1.99
0.50
2.0
4.6
—
—
—
0
0
(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum
0
14
0.00
0.44
0.0
1.3
—
13.2
—
0
7
(3042936) Bacteria identified in Isolate by Culture
0
14
0.00
0.44
0.0
1.4
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
7
49
1.92
0.43
3.4
2.5
—
0.0
—
0
7
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
7
49
1.92
0.43
24.7
10.0
mmol/l
1.2
1.2
—
7
43
(3035350) Ketones [Presence] in Urine by Test strip
7
51
1.80
0.42
3.4
2.4
—
0.0
—
0
7
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
5
68
0.57
0.40
3.0
3.2
—
—
—
0
0
(3015736) pH of Urine
5
38
1.51
0.27
2.4
2.3
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
7
59
1.40
0.24
4.6
4.0
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
0
11
0.00
0.22
0.0
1.4
—
—
—
0
0
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
8
69
1.41
0.11
3.6
5.2
mmol/l
6.0
6.2
—
8
58
(3031040) Bacteria [#/volume] in Urine by Automated count
5
58
0.78
0.11
4.4
3.7
—
—
—
0
0
(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma
8
72
1.29
0.11
3.9
4.1
mmol/l
1.5
1.4
—
8
65
(3019900) Cholesterol [Moles/volume] in Serum or Plasma
8
72
1.29
0.11
4.0
4.0
mmol/l
4.4
4.5
—
8
66
(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma
8
73
1.25
0.11
4.4
4.8
mmol/l
2.4
2.7
—
8
64
(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells
0
6
0.00
0.00
0.0
3.8
—
—
—
0
0
(4035726)
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood
0
6
0.00
0.00
0.0
1.8
—
1.2
—
0
6
(3012336) Haptoglobin [Mass/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.0
—
1.5
—
0
7
(3029338) Protein.monoclonal band 3 [Mass/volume] in Serum or Plasma by Electrophoresis
0
5
0.00
0.00
0.0
1.0
—
0.0
—
0
5
(4010399)
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
(3024889) Methemoglobin/Hemoglobin.total in Venous blood
0
5
0.00
0.00
0.0
44.4
—
0.4
—
0
5
(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood
0
5
0.00
0.00
0.0
44.4
—
2.8
—
0
5
(3025159) Blasts/100 leukocytes in Blood
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
(3021440) Promyelocytes/100 leukocytes in Blood
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
(3017181) Myelocytes/100 leukocytes in Blood
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
(3008898) HLA-B27 [Presence]
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3028286) Albumin [Mass/volume] in Serum or Plasma by Electrophoresis
0
5
0.00
0.00
0.0
1.0
—
35.9
—
0
5
(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood
0
8
0.00
0.00
0.0
5.8
—
1.3
—
0
8
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
0
5
0.00
0.00
0.0
3.0
—
—
—
0
0
(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3044889) 12 lead EKG panel
5
52
0.94
0.00
4.4
3.0
—
—
—
0
0
(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis
0
5
0.00
0.00
0.0
1.0
—
0.0
—
0
5
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3029713) Protein.monoclonal band 1 [Mass/volume] in Serum or Plasma by Electrophoresis
0
5
0.00
0.00
0.0
1.0
—
0.0
—
0
5
(3002256) Pathology report gross observation
0
9
0.00
0.00
0.0
1.6
—
—
—
0
0
(3035797) Protein.monoclonal band 2 [Mass/volume] in Serum or Plasma by Electrophoresis
0
5
0.00
0.00
0.0
1.0
—
0.0
—
0
5
(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3010130) Cytomegalovirus IgG Ab [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3014007) Fractional oxyhemoglobin in Arterial blood
0
8
0.00
0.00
0.0
5.8
—
94.0
—
0
8
(3013139) Helicobacter pylori Ag [Presence] in Stool
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
6
63
0.91
0.00
4.7
3.3
pmol/l
14.9
14.8
—
6
57
(40761536) Microorganisms panel - Urine sediment
0
8
0.00
0.00
0.0
2.6
—
—
—
0
0
(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting
7
69
1.03
0.00
4.0
3.8
mmol/l
1.1
1.3
—
7
62
(3006217) Methemoglobin/Hemoglobin.total in Arterial blood
0
8
0.00
0.00
0.0
5.8
—
0.6
—
0
8
(3030981) Hyaline casts [#/volume] in Urine by Automated count
0
7
0.00
0.00
0.0
2.1
—
0.1
—
0
7
(3002179) Metamyelocytes/100 leukocytes in Blood
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
(3014218) Bicarbonate [Moles/volume] standard in Arterial blood
0
5
0.00
0.00
0.0
7.0
—
21.4
—
0
5

Mortality – FinRegistry

Association

Association between endpoint E4_BRANCHAMINONAS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_BRANCHAMINONAS.

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_BRANCHAMINONAS – Disorders of branched-chain amino-acid 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
FinnGen
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