info icon

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

See these related core endpoints for full statistics:

Disorder of amino-acid metabolism, other/unspecified

E4_AMINONAS

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 E72.8, E72.9
  • Hospital discharge: ICD-9 2707
  • Cause of death: ICD-10 E72.8, E72.9
  • Cause of death: ICD-9 2707

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

42

4. Check minimum number of events

None

42

5. Include endpoints

None

42

6. Filter based on genotype QC (FinnGen only)

42

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 457 216 237
Only index persons 323 153 170
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 58.69 61.68 55.77
Only index persons 59.92 63.72 56.50

-FinnGen-

Key figures

All Female Male
Number of individuals 42 20 22
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 58.46 61.08 56.09

-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
(3019309) Folate [Moles/volume] in Red Blood Cells
18
50
5.55
6.63
3.2
1.7
nmol/l
2151.7
1257.5
0.95
13
39
(3023183) Ammonium ion [Moles/volume] in Plasma
6
6
11.37
3.61
10.2
1.3
umol/l
41.7
30.0
—
6
6
(3000991) Gas panel - Venous blood
10
27
4.55
3.60
16.0
4.7
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
18
80
3.19
3.17
8.4
3.7
—
—
—
0
0
(3005895) Myoglobin [Mass/volume] in Serum or Plasma
6
9
7.55
2.97
2.7
2.1
ug/l
319.7
700.0
—
6
9
(3022313) Gas panel - Capillary blood
8
18
5.22
2.96
2.8
5.8
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
8
18
5.22
2.96
14.0
3.9
—
—
—
0
0
(3027315) Oxygen [Partial pressure] in Blood
5
6
9.23
2.82
11.8
1.0
kpa
9.2
8.9
—
5
6
(3013290) Carbon dioxide [Partial pressure] in Blood
5
6
9.23
2.82
11.8
1.0
kpa
4.8
4.5
—
5
6
(3001604) Monocytes [#/volume] in Blood
26
151
2.89
2.76
4.2
5.0
e9/l
0.7
0.6
0.85
26
133
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
12
45
3.33
2.73
1.5
1.7
—
—
—
0
0
(3006315) Basophils [#/volume] in Blood
26
152
2.87
2.71
4.2
5.1
e9/l
0.0
0.0
0.15
26
135
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
21
111
2.78
2.63
2.9
1.8
pmol/l
92.0
105.2
0.35
14
49
(3044290) Cell count panel - Cerebral spinal fluid
5
8
6.90
2.44
1.2
1.0
—
—
—
0
0
(3013115) Eosinophils [#/volume] in Blood
26
158
2.69
2.43
4.9
5.2
e9/l
0.2
0.2
0.19
26
144
(3019198) Lymphocytes [#/volume] in Blood
26
158
2.69
2.43
4.2
5.1
e9/l
2.0
1.8
0.73
26
141
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
7
21
3.78
2.07
1.9
1.4
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
7
21
3.78
2.07
12.9
7.2
mmol/l
25.4
24.8
—
7
21
(3042936) Bacteria identified in Isolate by Culture
11
46
2.88
2.05
3.3
2.5
—
—
—
0
0
(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma
12
53
2.77
2.03
2.6
1.8
pmol/l
458.8
419.1
0.16
12
46
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
7
23
3.44
1.89
1.9
1.8
—
—
—
0
0
(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma
26
171
2.37
1.89
11.6
4.8
umol/l
15.4
14.2
0.08
26
161
(3022096) Basophils/100 leukocytes in Blood
23
144
2.32
1.86
6.1
5.1
%
0.6
0.6
0.00
23
136
(3019069) Monocytes/100 leukocytes in Blood
23
146
2.27
1.78
6.1
5.4
%
9.5
8.8
0.58
23
138
(3006504) Eosinophils/100 leukocytes in Blood
23
146
2.27
1.78
5.4
5.2
%
2.7
2.9
0.17
23
137
(40760892) CBC W Ordered Manual Differential panel - Blood
12
58
2.50
1.69
4.9
4.7
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
18
108
2.17
1.55
6.1
5.2
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
8
34
2.66
1.38
2.6
1.9
—
—
—
0
0
(3015736) pH of Urine
17
104
2.07
1.37
5.2
3.8
—
—
—
0
0
(3018418) pH of Serum or Plasma
14
81
2.09
1.29
17.1
3.1
ph
7.4
7.4
—
5
13
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
8
38
2.36
1.27
14.8
6.6
—
—
—
0
0
(3004490) Bicarbonate [Moles/volume] standard in Capillary blood
5
19
2.84
1.25
4.2
5.3
mmol/l
25.5
25.3
—
5
19
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
18
117
1.94
1.20
7.9
4.0
ng/l
111.8
69.1
0.19
18
85
(3025941) Bacteria identified in Stool by Culture
5
20
2.69
1.18
1.6
1.5
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
7
33
2.34
1.12
1.4
1.7
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
7
33
2.34
1.12
1.4
1.7
—
—
—
0
0
(3000850) Epithelial cells [#/volume] in Urine
12
70
2.00
1.06
8.9
2.0
e6/l
4.2
5.3
0.27
12
60
(46235355) HIV 1 and 2 tests - Meaningful Use set
9
50
2.01
1.05
2.7
2.0
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
11
63
2.01
1.02
3.5
4.0
—
—
—
0
0
(3032080) INR in Blood by Coagulation assay
17
114
1.83
1.00
25.3
7.5
inr
1.1
1.2
—
8
23
(3013650) Neutrophils [#/volume] in Blood by Automated count
24
179
1.80
1.00
6.8
8.5
e9/l
4.0
4.0
0.00
24
159
(40761536) Microorganisms panel - Urine sediment
6
27
2.42
0.98
11.5
3.7
—
—
—
0
0
(3026782) Osmolality of Urine
11
64
1.97
0.97
8.8
2.4
mosm/kgh2o
460.1
556.2
1.26
11
53
(3017143) Hepatitis C virus Ab [Presence] in Serum
6
28
2.33
0.96
3.3
1.7
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
14
90
1.83
0.93
8.6
3.0
—
—
—
0
0
(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma
14
91
1.81
0.90
9.5
3.3
u/l
41.6
30.4
0.55
14
86
(3044640) Blood type and Crossmatch panel - Blood
14
91
1.81
0.90
4.5
1.8
—
—
—
0
0
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
20
146
1.71
0.86
19.9
4.7
mmol/l
1.2
1.2
0.33
15
127
(36660697) Celiac disease serology panel - Serum
0
24
0.00
0.82
0.0
1.3
—
—
—
0
0
(3022621) pH of Urine by Test strip
0
26
0.00
0.81
0.0
3.4
—
—
—
0
0
(4010399)
0
27
0.00
0.80
0.0
1.4
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
17
123
1.64
0.74
8.1
3.0
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
31
263
1.68
0.69
25.0
13.6
%
38.1
39.5
0.37
16
190
(21494755) Public health laboratory ask at order entry panel
0
20
0.00
0.62
0.0
1.3
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
6
35
1.83
0.61
3.3
1.8
—
—
—
0
0
(3033658) Prothrombin time (PT) actual/Normal
11
75
1.63
0.58
10.0
2.9
%
66.6
90.1
1.28
11
75
(3003694) ABO and Rh group [Type] in Blood
5
80
0.57
0.52
2.4
1.5
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
24
201
1.45
0.49
7.5
4.5
—
—
—
0
0
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
34
307
1.56
0.45
35.5
13.1
mg/l
29.2
23.1
0.39
29
237
(40768797) Stomach Pathology biopsy report
5
31
1.69
0.45
1.2
1.2
—
—
—
0
0
(3002256) Pathology report gross observation
5
33
1.58
0.43
1.0
1.1
—
—
—
0
0
(3008898) HLA-B27 [Presence]
0
15
0.00
0.42
0.0
1.1
—
—
—
0
0
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
0
16
0.00
0.42
0.0
2.3
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
9
67
1.44
0.42
3.9
1.6
—
—
—
0
0
(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum
0
17
0.00
0.41
0.0
2.2
—
—
—
0
0
(3000330) Specific gravity of Urine by Test strip
0
18
0.00
0.41
0.0
3.8
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
5
36
1.44
0.39
2.0
1.3
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
17
139
1.37
0.37
8.2
5.7
estimate
0.0
0.0
—
5
29
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
21
178
1.36
0.37
4.0
2.9
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
34
313
1.45
0.34
40.0
12.3
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
16
131
1.36
0.34
11.7
3.7
—
—
—
0
0
(3035350) Ketones [Presence] in Urine by Test strip
17
141
1.35
0.33
7.3
4.0
estimate
0.0
0.0
—
5
30
(3009261) Glucose [Presence] in Urine by Test strip
17
143
1.32
0.30
7.3
4.1
estimate
0.0
0.0
—
5
28
(3019150) Specific gravity of Urine by Refractometry
8
65
1.28
0.29
5.9
4.4
—
1.0
—
0
10
(1761868) Lipid panel - Serum or Plasma
10
79
1.35
0.25
4.8
2.9
—
—
—
0
0
(3010726) Horse dander IgE Ab [Units/volume] in Serum
0
11
0.00
0.21
0.0
1.0
—
2.7
—
0
6
(3008401) Mugwort IgE Ab [Units/volume] in Serum
0
11
0.00
0.21
0.0
1.0
—
5.3
—
0
11
(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum
0
10
0.00
0.21
0.0
1.5
—
—
—
0
0
(3005229) Alpha 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
12
0.00
0.21
0.0
2.0
—
7.5
—
0
7
(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
12
0.00
0.21
0.0
2.0
—
—
—
0
0
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
0
12
0.00
0.21
0.0
2.0
—
—
—
0
0
(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
12
0.00
0.21
0.0
2.0
—
3.4
—
0
7
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
0
13
0.00
0.21
0.0
1.9
—
—
—
0
0
(1761482) Bacteria [#/volume] in Urine by Culture
0
13
0.00
0.21
0.0
4.0
—
—
—
0
0
(3016888) Borrelia burgdorferi IgG Ab [Units/volume] in Serum
0
14
0.00
0.20
0.0
1.3
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
12
102
1.25
0.17
4.6
2.9
—
—
—
0
0
(3013512) EKG study
11
93
1.25
0.16
5.2
3.7
—
—
—
0
0
(3019550) Sodium [Moles/volume] in Serum or Plasma
33
312
1.27
0.15
45.8
14.1
mmol/l
139.6
139.6
0.06
33
304
(3023103) Potassium [Moles/volume] in Serum or Plasma
33
312
1.27
0.15
47.3
14.2
mmol/l
4.1
4.0
0.81
33
303
(3044889) 12 lead EKG panel
21
192
1.19
0.15
5.2
3.7
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
12
107
1.17
0.10
9.0
4.5
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
7
80
0.85
0.08
12.1
3.8
—
—
—
0
0
(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma
34
327
1.21
0.07
17.8
9.0
u/l
23.3
24.5
0.26
34
319
(3003338) MCHC [Mass/volume]
27
260
1.11
0.05
31.1
16.5
g/l
326.8
332.3
2.84
27
260
(40768804) Tissue Pathology biopsy report
11
108
1.03
0.00
1.3
1.8
—
—
—
0
0
(40758558) Short blood count panel - Blood
8
79
1.02
0.00
5.3
4.9
—
—
—
0
0
(3035285) Chloride [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
4.6
—
107.2
—
0
5
(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3021788) Differential panel - Synovial fluid
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3000963) Hemoglobin [Mass/volume] in Blood
35
344
1.10
0.00
49.6
18.7
g/l
124.6
136.3
3.18
35
338
(3023081) Carboxyhemoglobin/Hemoglobin.total in Blood
0
8
0.00
0.00
0.0
4.5
—
1.8
—
0
8
(44790048)
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3021387) Prolactin [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
262.2
—
0
5
(3023430) Cat dander IgE Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
1.7
—
0
5
(44790047)
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3035941) MCH [Entitic mass]
35
344
1.10
0.00
48.9
18.5
pg
30.0
30.1
0.06
35
339
(3035637) Corticotropin [Mass/volume] in Plasma
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
(44806118)
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3041354) Potassium [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
4.6
—
4.0
—
0
5
(40768800) Prostate Pathology biopsy report
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(4094501)
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum
0
9
0.00
0.00
0.0
1.8
—
—
—
0
0
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
4.6
—
24.7
—
0
7
(3014133) Dog dander IgE Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
2.3
—
0
5
(40768793) Breast Pathology biopsy report
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
(3050129) First trimester maternal screen panel - Serum or Plasma
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3014051) Protein [Presence] in Urine by Test strip
0
7
0.00
0.00
0.0
2.1
—
—
—
0
0
(3024731) MCV [Entitic volume]
35
344
1.10
0.00
49.1
18.6
fl
91.6
90.5
0.43
35
339
(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.3
—
32.6
—
0
7
(3033705) Calcium.ionized [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
4.6
—
—
—
0
0
(3038515) Glucose [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
6.2
—
7.3
—
0
5
(44790049)
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3007930) Methemoglobin/Hemoglobin.total in Blood
0
8
0.00
0.00
0.0
4.5
—
0.9
—
0
8
(3047007) Chlamydophila sp Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3008037) Lactate [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
6.2
—
1.5
—
0
5
(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count
0
5
0.00
0.00
0.0
2.4
—
—
—
0
0
(3047181) Lactate [Moles/volume] in Blood
0
6
0.00
0.00
0.0
6.7
—
1.1
—
0
6
(3023511) Choriogonadotropin [Units/volume] in Urine
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay
0
9
0.00
0.00
0.0
1.6
—
—
—
0
0
(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
(3017895) Helicobacter pylori Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3039162) Centromere protein B Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint E4_AMINONAS and mortality.

Females

Parameter HR [95% CI] p-value
E4_AMINONAS 1.813 [1.19, 2.77] 0.006
Birth year 0.997 [0.99, 1.01] 0.458

During the follow-up period (1.1.1998 — 31.12.2019), 59 out of 158 females with E4_AMINONAS died.

Males

Parameter HR [95% CI] p-value
E4_AMINONAS 3.184 [1.91, 5.31] < 0.001
Birth year 0.989 [0.98, 1.0] 0.024

During the follow-up period (1.1.1998 — 31.12.2019), 78 out of 174 males with E4_AMINONAS died.

Mortality risk

Mortality risk for people of age

years, who have E4_AMINONAS.

N-year risk Females Males
1 0.178% 0.628%
5 1.062% 3.808%
10 2.809% 9.333%
15 5.638% 17.533%
20 9.606% 28.165%

Relationships between endpoints

Index endpoint: E4_AMINONAS – Disorder of amino-acid metabolism, other/unspecified

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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