No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
110 |
4. Check minimum number of eventsNone |
110 |
5. Include endpoints |
115 |
6. Filter based on genotype QC (FinnGen only) |
115 |
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 aromaticorum
Similar endpoints
↥List of similar endpoints to
Disorders of aromatic amino-acid metabolism
based on the number of shared cases.
Similar with more cases:
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1159 | 532 | 616 |
| Only index persons | 866 | 389 | 477 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.02 |
| Only index persons | 0.02 | 0.01 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 58.64 | 60.78 | 56.81 |
| Only index persons | 56.65 | 56.92 | 56.42 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 115 | 52 | 63 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.03 |
| Median age at first event (years) | 53.35 | 45.54 | 59.80 |
-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
No data
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.
Matched cohort
- Matched cases
- 108
- Matched controls
- 1079
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E70.2
ICD-10 Finland
Disorders of tyrosine metabolism
+∞
42.5
38
*
E70.3
ICD-10 Finland
Albinism
+∞
23.8
22
*
E70.0
ICD-10 Finland
Classical phenylketonuria
+∞
21.6
20
*
I70.2
ICD-10 Finland
Atherosclerosis of arteries of extremities
12.4
20.0
38
45
I70.9
ICD-10 Finland
Generalized and unspecified atherosclerosis
73.1
11.9
13
*
E70.8
ICD-10 Finland
Other disorders of aromatic amino-acid metabolism
+∞
11.7
11
*
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
8.8
10.7
23
32
E70.9
ICD-10 Finland
Disorder of aromatic amino-acid metabolism, unspecified
+∞
10.6
10
*
Z31.5
ICD-10 Finland
Genetic counselling
13.2
10.0
17
15
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
17.6
9.3
14
9
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
4.5
9.2
37
113
PE1AT
NOMESCO Finland
Femoral artery PTA
54.5
8.8
10
*
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
18.2
8.8
13
8
103
Kela drug reimbursment
Diabetes, insulin-treated
3.9
8.7
41
145
WX408
NOMESCO Finland
General anesthesy, balanced
3.9
8.6
43
158
I25.9
ICD-10 Finland
Chronic ischaemic heart disease, unspecified
5.7
8.5
25
54
E70.1
ICD-10 Finland
Other hyperphenylalaninaemias
+∞
8.4
8
*
E11.7
ICD-10 Finland
Type 2 diabetes mellitus, with multiple complications
10.2
8.4
16
18
B01AC04
ATC
clopidogrel; oral
5.2
8.2
26
62
PD4BC
NOMESCO Finland
Extensive arterigography of lower extremity with X-ray
17.3
7.4
11
7
H55
ICD-10 Finland
Nystagmus and other irregular eye movements
+∞
7.4
7
*
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
+∞
7.4
7
*
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
6.7
7.3
18
31
PD4DE
NOMESCO Finland
Lower extremity artery ultrasound examination with Doppler method
21.8
7.3
10
5
N08.39*E11.2
ICD-10 Finland
Non-insulin-dependent diabetes mellitus - Diabetic nephropathy
21.8
7.3
10
5
A10AC01
ATC
insulin (human); parenteral (insulins and analog. for injection, intermediate-acting)
5.7
7.1
20
41
E11.5
ICD-10 Finland
Type 2 diabetes mellitus, with peripheral circulatory complications
15.1
7.1
11
8
L97
ICD-10 Finland
Ulcer of lower limb, not elsewhere classified
10.4
7.0
13
14
TPH04
NOMESCO Finland
Cathetrisation of vein
3.6
6.9
34
122
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
8.8
6.9
14
18
I25.1
ICD-10 Finland
Atherosclerotic heart disease
3.5
6.7
35
129
E11.00
ICD-10 Finland
Non-insulin dependent diabetes diabetic hypoglycaemic coma
11.1
6.7
12
12
PE1BT
NOMESCO Finland
Femoral artery extensive PTA
74.0
6.5
7
*
C03CA01
ATC
furosemide; systemic
3.1
6.5
43
190
A11CC03
ATC
alfacalcidol; systemic
12.1
6.5
11
10
A10AE04
ATC
insulin glargine; parenteral
5.6
6.4
18
37
N08.39*E10.2
ICD-10 Finland
Insulin-dependent diabetes mellitus - Diabetic nephropathy
28.5
6.3
8
*
X57
ICD-10 Finland
Unspecified privation
28.5
6.3
8
*
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
+∞
6.3
6
*
PD4CG
NOMESCO Finland
Extensive MRI examination of abdominal aortta and vasculature of lower extremities with high intensity magnet
+∞
6.3
6
*
AN1
HP
Coronary angiography
5.7
6.2
17
34
XPX99
NOMESCO Finland
Other diagnostic examination of periferal vessel
5.7
6.2
17
34
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.8
6.1
53
275
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
(36305247) Microscopic observation [Identifier] in Isolate by Gram stain
10
16
6.75
6.06
3.4
1.4
—
—
—
0
0
(3009508) Creatinine [Moles/volume] in Urine
46
227
2.71
6.06
4.2
3.1
mmol/l
6.7
8.3
1.51
38
188
(42870588) Differential panel, method unspecified - Blood
48
251
2.57
5.54
6.8
7.3
—
—
—
0
0
(3013336) Amino acids [Identifier] in Serum or Plasma
5
0
+∞
5.24
14.4
0.0
—
—
—
0
0
(3003396) Base excess in Arterial blood by calculation
22
78
3.25
5.16
3.3
5.8
mmol/l
0.4
0.9
0.22
15
59
(3020682) Albumin/Creatinine [Ratio] in Urine
41
209
2.49
4.90
5.0
3.6
mg/mmol
19.4
6.0
0.87
27
128
(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma
9
11
8.76
4.65
5.1
1.7
—
—
—
0
0
(3012516) Albumin [Mass/volume] in Urine
38
192
2.46
4.59
4.0
3.0
mg/l
117.3
41.0
0.93
27
121
(3030905) Polymorphonuclear cells [#/volume] in Blood
9
12
8.02
4.44
2.8
2.3
e9/l
3.8
4.0
—
9
12
(3032035) Polymorphonuclear cells/100 leukocytes in Blood
9
13
7.40
4.25
3.3
3.4
%
58.3
54.8
—
9
13
(3004789) Transferrin [Mass/volume] in Serum or Plasma
26
117
2.58
3.95
3.5
2.1
g/l
2.4
2.4
0.16
26
108
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
58
373
2.12
3.80
11.0
6.6
mmol/l
1.2
1.2
0.56
44
316
(3006315) Basophils [#/volume] in Blood
61
405
2.08
3.63
8.7
7.0
e9/l
0.0
0.0
0.06
54
358
(3022948) Iron [Moles/volume] in Serum or Plasma
26
125
2.40
3.42
3.2
2.1
umol/l
12.5
15.0
0.85
26
119
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
17
66
2.85
3.39
2.2
2.0
—
—
—
0
0
(3001604) Monocytes [#/volume] in Blood
60
403
2.02
3.39
8.8
7.0
e9/l
0.6
0.6
0.63
54
355
(3019198) Lymphocytes [#/volume] in Blood
61
417
1.99
3.23
8.7
7.0
e9/l
1.8
1.8
0.12
55
376
(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma
57
384
1.96
3.12
9.3
7.0
umol/l
9.5
11.4
1.14
57
360
(3024561) Albumin [Mass/volume] in Serum or Plasma
48
305
1.98
3.11
7.9
4.2
g/l
34.4
36.0
0.84
42
286
(1616796) Gas panel - Central venous blood
8
16
5.29
3.11
6.8
2.2
—
—
—
0
0
(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma
49
314
1.98
3.09
3.6
2.4
nmol/l
81.6
75.4
1.02
44
279
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
12
42
3.07
2.84
1.3
1.2
—
—
—
0
0
(3005719) IgG [Mass/volume] in Serum or Plasma
16
67
2.61
2.78
3.0
3.0
g/l
9.5
9.7
0.13
16
61
(3013005) Retinol [Moles/volume] in Serum or Plasma
5
6
8.64
2.77
8.4
3.5
umol/l
1.8
1.9
—
5
6
(40760892) CBC W Ordered Manual Differential panel - Blood
32
183
2.04
2.73
7.2
5.6
—
—
—
0
0
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
51
343
1.87
2.71
20.5
6.1
mmol/l
1.2
1.2
1.80
45
312
(3023368) Bacteria identified in Blood by Culture
34
200
1.99
2.68
5.3
4.6
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
15
63
2.59
2.59
7.7
3.4
—
—
—
0
0
(40760888) Immunoglobulin light chains.free panel - Serum
5
7
7.40
2.57
1.2
1.9
—
—
—
0
0
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
43
281
1.85
2.46
2.7
2.0
pmol/l
101.1
96.6
0.29
27
151
(3032080) INR in Blood by Coagulation assay
44
291
1.83
2.42
5.7
7.9
inr
1.0
1.2
3.70
16
78
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
8
22
3.83
2.41
2.1
1.8
—
—
—
0
0
(3000991) Gas panel - Venous blood
16
72
2.42
2.40
20.4
9.5
—
—
—
0
0
(3020717) Zinc [Moles/volume] in Serum or Plasma
5
8
6.47
2.39
6.2
1.0
umol/l
14.9
22.7
—
5
8
(3007853) Bacteria identified in Skin by Aerobe culture
18
87
2.27
2.32
3.9
1.7
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
23
124
2.07
2.28
2.5
1.9
—
—
—
0
0
(3019060) Gas panel - Arterial blood
12
48
2.67
2.27
2.7
3.3
—
—
—
0
0
(3016650) Hepatitis A virus Ab [Presence] in Serum
5
9
5.75
2.23
1.2
1.2
—
—
—
0
0
(3018418) pH of Serum or Plasma
35
221
1.84
2.20
8.8
2.9
ph
7.4
7.4
0.27
12
43
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
41
272
1.79
2.20
4.9
3.8
ng/l
55.0
32.9
0.59
31
185
(3013290) Carbon dioxide [Partial pressure] in Blood
7
19
3.85
2.19
6.4
1.7
kpa
4.9
4.8
—
7
19
(3027315) Oxygen [Partial pressure] in Blood
7
19
3.85
2.19
6.4
1.7
kpa
8.9
8.3
—
7
19
(3013650) Neutrophils [#/volume] in Blood by Automated count
63
474
1.73
2.17
13.7
10.1
e9/l
4.8
4.0
1.52
57
422
(3000492) Spirometry study
15
69
2.35
2.15
1.4
1.4
—
—
—
0
0
(3028026) IgM [Mass/volume] in Serum or Plasma
13
56
2.49
2.14
2.2
1.8
g/l
1.2
1.1
0.15
13
48
(3013512) EKG study
32
199
1.84
2.10
5.5
3.5
—
—
—
0
0
(3021901) Oxygen saturation in Capillary blood
7
20
3.66
2.09
3.7
2.3
—
—
—
0
0
(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection
6
15
4.16
2.06
1.3
1.3
—
—
—
0
0
(3015235) Bicarbonate [Moles/volume] in Capillary blood
8
26
3.23
2.05
14.3
2.2
mmol/l
24.9
23.9
—
8
20
(3013826) Glucose [Moles/volume] in Serum or Plasma
60
452
1.68
2.01
9.2
4.8
mmol/l
7.4
6.6
1.28
55
421
(3009445) Proteinase 3 Ab [Units/volume] in Serum
9
33
2.87
1.98
1.1
1.3
—
—
—
0
0
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
9
33
2.87
1.98
4.4
8.2
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
43
298
1.71
1.95
5.7
3.3
—
—
—
0
0
(3021589) Normoblasts [#/volume] in Blood
50
366
1.65
1.82
16.4
9.5
e9/l
0.0
0.0
0.50
43
291
(3009343) pH of Capillary blood
14
68
2.21
1.79
14.4
6.3
ph
7.4
7.4
—
5
9
(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection
7
24
3.04
1.75
1.4
1.5
—
—
—
0
0
(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection
5
13
3.97
1.73
1.4
1.3
—
—
—
0
0
(3023024) Carbon dioxide [Partial pressure] in Capillary blood
14
69
2.17
1.73
14.4
6.2
kpa
5.7
5.1
0.83
14
62
(3015736) pH of Urine
43
309
1.63
1.66
4.3
3.6
—
—
—
0
0
(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence
5
14
3.68
1.63
1.0
1.4
—
—
—
0
0
(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection
5
14
3.68
1.63
1.0
1.3
—
—
—
0
0
(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood
8
32
2.61
1.63
19.4
5.5
%
1.3
1.2
—
8
32
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
21
124
1.85
1.61
2.5
1.7
—
—
—
0
0
(3014007) Fractional oxyhemoglobin in Arterial blood
10
44
2.39
1.58
5.1
7.1
%
94.4
92.8
—
10
44
(3018677) aPTT in Platelet poor plasma by Coagulation assay
20
117
1.86
1.58
3.2
3.0
s
30.0
29.8
0.05
20
112
(3020891) Body temperature
8
33
2.53
1.57
32.4
3.9
—
—
—
0
0
(3005702) Mycobacterium sp identified in Specimen by Organism specific culture
6
21
2.96
1.52
1.3
1.2
—
—
—
0
0
(3006184) Hemoglobin [Mass/volume] in Capillary blood
6
21
2.96
1.52
4.2
2.0
g/l
130.7
130.1
—
6
16
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
7
28
2.59
1.47
1.9
2.3
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
33
228
1.63
1.47
2.7
2.7
—
—
—
0
0
(3028271) Lactate [Moles/volume] in Capillary blood
5
16
3.22
1.45
1.6
1.4
mmol/l
1.9
1.5
—
5
16
(3028626) Oxygen [Partial pressure] in Capillary blood
10
46
2.29
1.44
9.2
6.8
kpa
8.8
9.2
—
10
41
(3029937) Albumin [Presence] in Urine by Test strip
33
229
1.62
1.44
6.0
4.0
estimate
0.0
0.0
0.00
13
73
(3044640) Blood type and Crossmatch panel - Blood
33
230
1.61
1.42
2.4
2.4
—
—
—
0
0
(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma
13
225
0.52
1.38
2.7
4.3
%
19.2
20.9
—
5
121
(3048929) Epstein Barr virus Ab [Presence] in Serum
8
34
2.45
1.32
2.0
1.6
—
—
—
0
0
(3012110) Lysozyme [Mass/volume] in Serum or Plasma
5
18
2.85
1.30
1.6
1.8
mg/l
14.4
10.8
—
5
18
(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay
5
18
2.85
1.30
1.8
1.4
—
—
—
0
0
(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum
5
18
2.85
1.30
1.2
1.3
—
—
—
0
0
(3019309) Folate [Moles/volume] in Red Blood Cells
22
142
1.68
1.26
3.0
1.7
nmol/l
1215.8
1170.4
0.07
17
110
(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)
10
49
2.14
1.26
7.4
2.3
ml/min/173m2
52.2
72.1
—
5
16
(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection
6
25
2.47
1.26
1.8
1.7
—
—
—
0
0
(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma
5
19
2.70
1.23
3.0
2.1
—
—
—
0
0
(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma
5
19
2.70
1.23
3.0
2.1
—
—
—
0
0
(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma
34
247
1.53
1.21
6.6
3.5
u/l
54.7
28.8
0.50
34
235
(40758558) Short blood count panel - Blood
31
221
1.55
1.20
11.0
7.8
—
—
—
0
0
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
6
26
2.38
1.20
1.7
1.9
—
—
—
0
0
(3030467) Casts [#/volume] in Urine by Automated count
32
230
1.54
1.20
5.8
3.0
e6/l
0.1
0.4
1.27
26
169
(3016251) Hemoglobin.gastrointestinal [Presence] in Stool
8
39
2.13
1.18
1.6
2.3
—
—
—
0
0
(1002224) Polysomnography panel
0
36
0.00
1.16
0.0
1.1
—
—
—
0
0
(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay
5
21
2.44
1.10
2.6
1.9
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
50
401
1.44
1.08
6.0
4.9
estimate
0.0
0.0
0.00
15
74
(3004588) Protein electrophoresis panel - Serum or Plasma
7
33
2.19
1.07
3.0
1.2
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
11
60
1.92
1.07
15.7
11.2
mmol/l
23.7
24.6
0.50
11
60
(3011960) Natriuretic peptide B [Mass/volume] in Serum or Plasma
9
46
2.04
1.06
6.6
3.4
ng/l
316.6
131.2
—
9
41
(3020630) Protein [Mass/volume] in Serum or Plasma
10
53
1.97
1.05
1.8
2.2
g/l
67.7
66.9
—
10
48
(4034850)
5
22
2.33
1.04
13.0
5.9
—
—
—
0
0
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
9
48
1.95
1.03
2.2
1.8
—
—
—
0
0
(3002256) Pathology report gross observation
15
92
1.73
1.03
1.3
1.3
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
44
348
1.43
1.02
6.9
4.0
—
—
—
0
0
(40761535) Cells panel - Urine sediment
12
69
1.83
1.01
4.0
4.0
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
50
406
1.41
0.99
5.1
3.7
estimate
0.0
0.0
0.00
12
73
(3018095) Leukocytes [#/volume] in Urine
37
285
1.44
0.98
5.9
3.8
e6/l
6.1
78.8
1.26
29
208
(3002582) Erythrocytes [#/volume] in Urine
34
258
1.45
0.97
5.4
3.2
e6/l
10.0
312.0
0.65
28
200
(36304419) Bacteria [Presence] in Urine
30
222
1.48
0.97
5.8
3.0
—
—
—
0
0
(3007164) IgA [Mass/volume] in Serum or Plasma
27
197
1.48
0.94
1.9
1.5
g/l
2.1
2.5
0.55
19
112
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
23
163
1.51
0.91
2.6
2.4
—
—
—
0
0
(3012336) Haptoglobin [Mass/volume] in Serum or Plasma
6
29
2.13
0.91
1.3
1.4
g/l
1.3
1.4
—
6
24
(3035350) Ketones [Presence] in Urine by Test strip
48
395
1.37
0.86
5.2
3.6
estimate
0.0
0.0
0.00
15
78
(3037467) Urinalysis macro (dipstick) panel - Urine
62
537
1.34
0.78
6.0
4.5
—
—
—
0
0
(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay
5
23
2.23
0.77
1.4
1.4
—
—
—
0
0
(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction
13
84
1.62
0.75
2.0
4.3
u/l
228.7
236.6
0.21
13
78
(3022145) Colonoscopy Study observation
13
85
1.60
0.72
1.1
1.3
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
24
181
1.41
0.71
4.8
3.8
—
—
—
0
0
(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection
5
27
1.89
0.69
1.6
1.4
—
—
—
0
0
(3045414) Leukocytes [Presence] in Urine
5
27
1.89
0.69
1.0
1.7
—
—
—
0
0
(3019225) pH of Specimen
10
62
1.67
0.67
2.9
4.1
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
15
104
1.51
0.66
1.2
1.2
—
—
—
0
0
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
9
140
0.61
0.65
5.0
3.9
ng/l
78.0
359.3
—
9
103
(3017732) Neutrophils [#/volume] in Blood
10
63
1.64
0.64
4.3
1.9
e9/l
5.8
3.8
—
5
52
(3022313) Gas panel - Capillary blood
8
49
1.68
0.63
12.1
8.4
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
12
80
1.56
0.62
11.7
3.6
—
—
—
0
0
(3039443) Prostate specific Ag panel - Serum or Plasma
0
20
0.00
0.61
0.0
1.5
—
—
—
0
0
(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma
0
20
0.00
0.61
0.0
1.8
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
14
98
1.49
0.60
2.1
1.5
—
—
—
0
0
(3023511) Choriogonadotropin [Units/volume] in Urine
0
23
0.00
0.59
0.0
1.3
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
21
164
1.34
0.51
1.5
1.6
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
38
323
1.26
0.51
5.8
3.7
—
—
—
0
0
(4035726)
8
56
1.46
0.43
1.5
1.5
—
—
—
0
0
(40768443) Skin Pathology biopsy report
5
31
1.64
0.43
1.0
1.2
—
—
—
0
0
(3027456) Digoxin [Moles/volume] in Serum or Plasma
0
15
0.00
0.41
0.0
2.6
—
0.7
—
0
10
(3039162) Centromere protein B Ab [Units/volume] in Serum
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
11
80
1.41
0.40
8.9
7.2
—
—
—
0
0
(3023323) Follitropin [Units/volume] in Serum or Plasma
5
35
1.45
0.40
2.4
2.4
iu/l
9.7
17.3
—
5
30
(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture
0
19
0.00
0.39
0.0
1.7
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
34
295
1.22
0.37
2.2
2.0
—
—
—
0
0
(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum
6
42
1.45
0.36
1.0
1.0
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
14
109
1.32
0.35
1.7
1.4
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
27
231
1.22
0.34
4.9
3.2
—
—
—
0
0
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
16
129
1.28
0.32
3.1
2.9
e6/l
1.0
1.8
—
10
73
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
59
545
1.17
0.32
3.4
3.3
—
—
—
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)
76
723
1.15
0.25
21.5
12.2
ml/min/173m2
79.1
83.1
0.58
63
579
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
78
746
1.14
0.23
5.7
4.3
mmol/l
6.4
5.9
1.68
71
677
(46235355) HIV 1 and 2 tests - Meaningful Use set
14
166
0.82
0.22
2.4
1.9
—
—
—
0
0
(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma
12
98
1.25
0.22
1.7
2.1
%
3.6
1.4
0.48
12
89
(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
(3051611) Lipemic interference index of Serum or Plasma
0
11
0.00
0.21
0.0
2.5
—
—
—
0
0
(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
9
114
0.77
0.21
1.8
2.1
—
—
—
0
0
(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
6
48
1.26
0.20
1.3
1.3
—
—
—
0
0
(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing
0
14
0.00
0.20
0.0
1.9
—
—
—
0
0
(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
(3042111) Morphology [Interpretation] in Bone marrow Narrative
0
14
0.00
0.20
0.0
1.9
—
—
—
0
0
(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma
0
14
0.00
0.20
0.0
1.6
—
—
—
0
0
(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma
74
771
0.89
0.20
5.8
4.0
mmol/l
1.3
1.4
2.14
68
703
(3009542) Hematocrit [Volume Fraction] of Blood
73
761
0.89
0.20
18.7
14.1
%
39.7
39.7
0.01
51
578
(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
6
52
1.16
0.19
1.0
1.1
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
83
858
0.88
0.19
25.4
11.9
—
—
—
0
0
(3019150) Specific gravity of Urine by Refractometry
21
187
1.15
0.17
5.0
4.1
—
1.0
—
0
24
(3015377) Calcium [Moles/volume] in Serum or Plasma
28
255
1.13
0.17
3.4
2.8
mmol/l
2.4
2.4
0.47
23
224
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
23
207
1.14
0.16
1.4
1.5
u/ml
0.8
1.1
—
7
49
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
83
804
1.12
0.16
22.9
13.4
mg/l
24.7
22.9
0.20
75
612
(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma
76
786
0.90
0.16
6.0
4.4
mmol/l
2.4
2.7
2.45
70
718
(21494755) Public health laboratory ask at order entry panel
9
81
1.12
0.15
1.3
1.3
—
—
—
0
0
(3019832) Treponema pallidum Ab [Presence] in Serum
8
98
0.80
0.14
1.9
1.7
—
—
—
0
0
(3019900) Cholesterol [Moles/volume] in Serum or Plasma
75
774
0.91
0.14
5.9
4.1
mmol/l
4.2
4.6
2.00
70
709
(3017143) Hepatitis C virus Ab [Presence] in Serum
10
87
1.16
0.10
2.4
1.5
—
—
—
0
0
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
57
588
0.94
0.08
5.3
3.8
pmol/l
14.8
14.7
0.11
52
530
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
13
118
1.11
0.07
2.3
1.7
—
—
—
0
0
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
8
93
0.85
0.07
1.4
1.6
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
9
104
0.85
0.06
1.8
1.8
—
—
—
0
0
(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma
26
272
0.94
0.05
4.7
5.0
ug/l
1.7
2.8
0.87
21
250
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
15
140
1.08
0.04
3.9
2.8
e6/l
0.8
0.8
—
8
83
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
10
91
1.11
0.04
3.1
1.5
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
10
92
1.10
0.03
3.1
1.5
—
—
—
0
0
(3009201) Thyrotropin [Units/volume] in Serum or Plasma
73
722
1.03
0.02
5.7
4.4
mu/l
2.0
1.9
0.08
66
652
(3003694) ABO and Rh group [Type] in Blood
22
214
1.03
0.00
1.5
1.5
—
—
—
0
0
(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting
74
746
0.98
0.00
5.5
3.7
mmol/l
1.6
1.3
1.59
67
681
(1761868) Lipid panel - Serum or Plasma
29
289
1.00
0.00
3.2
2.5
—
—
—
0
0
(3044889) 12 lead EKG panel
54
537
1.01
0.00
5.1
3.6
—
—
—
0
0
(3020564) Creatinine [Moles/volume] in Serum or Plasma
85
854
0.98
0.00
27.9
15.2
umol/l
90.0
76.3
2.03
85
854
(3032567) Hepatitis B virus DNA [Units/volume] (viral load) in Serum or Plasma by NAA with probe detection
0
5
0.00
0.00
0.0
3.0
—
—
—
0
0
(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.2
—
86.6
—
0
5
(3019897) Erythrocyte distribution width [Ratio] by Automated count
0
5
0.00
0.00
0.0
1.4
—
13.2
—
0
5
(3019497) Choriogonadotropin.beta subunit free [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3035933) Granulocytes/100 leukocytes in Blood
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(1001509) Gas and Carbon monoxide and Electrolytes panel - Arterial blood
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3034603) RHD gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3025018) Bordetella pertussis Ab [Titer] in Serum
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3051651) Icteric interference index of Serum or Plasma
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3045683) HLA typing for celiac disease panel - Blood or Tissue
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3018993) Complement total hemolytic CH100 [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3019601) Blood group antibody investigation [Interpretation] in Plasma or RBC
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3011544) Albumin [Mass/volume] in Pleural fluid
0
5
0.00
0.00
0.0
1.0
—
19.3
—
0
5
(3000093) Morphology [Interpretation] in Blood Narrative
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3022575) Varicella zoster virus IgG Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
1836.4
—
0
5
(3027544) Mycobacterium sp identified in Sputum by Organism specific culture
0
7
0.00
0.00
0.0
2.3
—
—
—
0
0
(1617658) Protocol used for examination of sentinel lymph nodes
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3026515) Parvovirus B19 IgM Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(36660697) Celiac disease serology panel - Serum
8
84
0.95
0.00
1.3
1.2
—
—
—
0
0
(3028433) Virus identified in Specimen by Culture
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3043453) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(3021125) Hepatitis C virus RNA [Presence] in Serum or Plasma by NAA with probe detection
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(3037677) Mycoplasma pneumoniae IgM Ab [Titer] in Cerebral spinal fluid
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(4027681)
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
(3029075) Extractable nuclear Ab panel - Serum
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3021879) Hepatitis B virus core Ab [Presence] in Serum
5
53
0.94
0.00
1.2
1.6
—
—
—
0
0
(3030429) Borrelia sp DNA [Identifier] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(40761849) Varicella zoster virus IgG Ab [Units/volume] in Cerebral spinal fluid by Immunoassay
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(40768795) Lymph node Pathology biopsy report
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(46235128) Lupus anticoagulant aPTT and dRVVT screening panel W Reflex
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3013566) Clostridioides difficile [Presence] in Stool by Organism specific culture
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3022621) pH of Urine by Test strip
5
59
0.84
0.00
1.2
2.7
—
—
—
0
0
(3009550) Parvovirus B19 IgG Ab [Titer] in Serum
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3052649) Adenosine deaminase [Enzymatic activity/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
2.0
—
13.4
—
0
7
(40760848) Basement membrane zone BP180 Ab [Units/volume] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3002823) Mycoplasma pneumoniae IgG Ab [Units/volume] in Cerebral spinal fluid
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint E4_AROMAMINO and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_AROMAMINO | 2.581 [1.81, 3.67] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.231 |
During the follow-up period (1.1.1998 — 31.12.2019), 148 out of 395 females with E4_AROMAMINO died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_AROMAMINO | 2.889 [2.02, 4.13] | < 0.001 |
| Birth year | 0.987 [0.98, 1.0] | 0.006 |
During the follow-up period (1.1.1998 — 31.12.2019), 185 out of 477 males with E4_AROMAMINO died.
Mortality risk
Mortality risk for people of age
years, who have E4_AROMAMINO.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.266% | 0.666% |
| 5 | 1.487% | 3.418% |
| 10 | 3.9% | 8.606% |
| 15 | 7.321% | 15.494% |
| 20 | 12.257% | 25.231% |
Relationships between endpoints
↥Index endpoint: E4_AROMAMINO – Disorders of aromatic amino-acid metabolism
GWS hits: 1
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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