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. |
149 |
4. Check minimum number of eventsNone |
149 |
5. Include endpoints |
168 |
6. Filter based on genotype QC (FinnGen only) |
168 |
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
- Aliae perturbationes metabolismi acidorum aminoicorum
Similar endpoints
↥List of similar endpoints to
Other disorders of 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
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1745 | 846 | 887 |
| Only index persons | 1331 | 659 | 672 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.02 |
| Only index persons | 0.02 | 0.02 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 52.90 | 55.02 | 50.64 |
| Only index persons | 53.93 | 55.81 | 52.09 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 168 | 85 | 83 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.04 |
| Median age at first event (years) | 52.70 | 47.48 | 58.05 |
-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
- 157
- Matched controls
- 1569
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E72.0
ICD-10 Finland
Disorders of amino-acid transport
+∞
47.3
43
*
E72.2
ICD-10 Finland
Disorders of urea cycle metabolism
+∞
25.7
24
*
E72.8
ICD-10 Finland
Other specified disorders of amino-acid metabolism
+∞
23.5
22
*
503
Kela drug reimbursment
Inborn metabolic disorders
+∞
23.5
22
*
E72.5
ICD-10 Finland
Disorders of glycine metabolism
+∞
21.3
20
*
E72.4
ICD-10 Finland
Disorders of ornithine metabolism
+∞
13.7
13
*
124
Kela drug reimbursment
Inborn metabolic disorders
+∞
12.7
12
*
E72.9
ICD-10 Finland
Disorder of amino-acid metabolism, unspecified
+∞
12.7
12
*
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
15.1
12.3
20
15
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
4.8
12.1
44
118
E72.3
ICD-10 Finland
Disorders of lysine and hydroxylysine metabolism
+∞
11.6
11
*
E87.1
ICD-10 Finland
Hypo-osmolality and hyponatraemia
+∞
11.6
11
*
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
6.2
11.2
31
60
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
10.0
11.2
22
25
C10AA01
ATC
simvastatin; oral
3.3
11.2
79
370
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
+∞
10.5
10
*
A10AB05
ATC
insulin aspart; parenteral (insulins and analog. for injection, fast-acting)
6.0
10.0
28
55
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
4.3
10.0
39
111
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.0
9.6
42
132
A11CC03
ATC
alfacalcidol; systemic
23.4
9.5
13
6
A10AE04
ATC
insulin glargine; parenteral
5.5
9.5
28
59
A09
ICD-10 Finland
Other gastroenteritis and colitis of infectious and unspecified origin
3.8
9.0
41
134
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
3.4
8.8
50
191
I10
ICD-10 Finland
Essential (primary) hypertension
2.8
8.8
91
520
103
Kela drug reimbursment
Diabetes, insulin-treated
3.1
8.7
56
235
A10AC01
ATC
insulin (human); parenteral (insulins and analog. for injection, intermediate-acting)
5.2
8.7
27
60
TK800
NOMESCO Finland
Hemodialysis
17.6
8.7
13
8
C03CA01
ATC
furosemide; systemic
3.1
8.6
58
250
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
21.5
8.6
12
6
E72.1
ICD-10 Finland
Disorders of sulfur-bearing amino-acid metabolism
+∞
8.4
8
*
E11.7
ICD-10 Finland
Type 2 diabetes mellitus, with multiple complications
7.6
8.4
19
28
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
18.4
8.2
12
7
E78.9
ICD-10 Finland
Disorder of lipoprotein metabolism, unspecified
35.4
8.2
10
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.7
8.1
79
429
N17.9
ICD-10 Finland
Acute renal failure, unspecified
8.5
8.1
17
22
D64.9
ICD-10 Finland
Anaemia, unspecified
4.8
7.9
26
62
N05CD07
ATC
temazepam; oral
3.8
7.6
33
102
N10
ICD-10 Finland
Acute tubulo-interstitial nephritis
3.6
7.3
34
112
A49.9
ICD-10 Finland
Bacterial infection, unspecified
4.1
7.2
28
79
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
8.2
7.1
15
20
A41.0
ICD-10 Finland
Sepsis due to Staphylococcus aureus
14.7
7.0
11
8
AA1AD
NOMESCO Finland
CT of head and brain
3.0
6.9
44
178
A41.9
ICD-10 Finland
Sepsis, unspecified
10.0
6.9
13
14
J01FF01
ATC
clindamycin; systemic
2.8
6.8
52
239
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.8
6.8
50
225
L28
ICPC
Limited function/disability (L)
3.4
6.8
34
118
Z94.0
ICD-10 Finland
Kidney transplant status
41.9
6.8
8
*
I25.1
ICD-10 Finland
Atherosclerotic heart disease
3.0
6.8
41
163
C01DA14
ATC
isosorbide mononitrate; oral
3.5
6.7
32
107
C10AA05
ATC
atorvastatin; oral
2.6
6.7
57
278
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
4.9
6.7
21
48
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
4.9
6.7
21
48
I25.9
ICD-10 Finland
Chronic ischaemic heart disease, unspecified
4.0
6.6
26
74
A10AB01
ATC
insulin (human); parenteral (insulins and analog. for injection, fast-acting)
8.0
6.6
14
19
E11.00
ICD-10 Finland
Non-insulin dependent diabetes diabetic hypoglycaemic coma
8.0
6.6
14
19
215
Kela drug reimbursment
Diabetes, non-insulin-treated
2.9
6.4
43
183
A10AB04
ATC
insulin lispro; parenteral (insulins and analog. for injection, fast-acting)
9.9
6.4
12
13
M04AA01
ATC
allopurinol; systemic
3.3
6.4
32
112
A10AE05
ATC
insulin detemir; parenteral
5.1
6.4
19
41
Z49.1
ICD-10 Finland
Extracorporeal dialysis
19.0
6.3
9
5
TPH04
NOMESCO Finland
Cathetrisation of vein
3.0
6.3
39
157
N16.3*E72.0
ICD-10 Finland
Renal tubulo-interstitial disorders in cystinosis
+∞
6.3
6
*
2700A
ICD-9 Finland
Disorders of amino-acid transport and metabolism, Disturbances of amino-acid transport[CYSTINURIA]
+∞
6.3
6
*
XF400
NOMESCO Finland
ECG with 12 standard connections
3.1
6.2
35
132
SPAT1262
SPAT
Handing over of treatment supplies
3.1
6.2
35
132
J18.9
ICD-10 Finland
Pneumonia, unspecified
2.7
6.2
47
215
SPAT1222
SPAT
Counselling/guidance promoting independent living
3.4
6.1
30
103
ZX120
NOMESCO Finland
Intravenous
4.4
6.1
21
53
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
59
158
5.21
21.72
17.4
6.0
1.2
1.1
mmol/l
0.29
53
142
53
156
4.50
16.94
6.6
2.2
21.6
23.4
%
0.28
43
134
58
189
4.16
16.11
6.8
2.2
10.8
13.7
umol/l
2.37
53
174
37
97
4.61
13.49
6.1
6.8
1.0
1.9
mmol/l
0.54
28
75
42
127
4.08
12.66
12.3
4.4
1.3
2.1
mmol/l
0.64
35
100
53
200
3.41
11.42
5.3
4.4
0.8
0.8
mmol/l
0.35
45
185
99
566
2.82
9.85
18.4
5.6
1.2
1.2
mmol/l
0.24
92
520
22
51
4.81
9.18
7.0
2.6
0.9
1.5
g/l
2.62
17
43
85
463
2.69
9.10
3.2
1.8
93.6
95.8
pmol/l
0.14
54
226
44
182
2.92
7.84
6.6
2.1
30.7
29.4
s
0.60
44
175
100
623
2.50
7.67
21.2
5.9
1.2
1.2
mmol/l
0.28
81
529
89
526
2.47
7.66
12.6
4.6
34.3
35.6
g/l
0.86
84
488
51
231
2.73
7.66
2.7
1.7
1512.6
1289.4
nmol/l
0.53
41
171
30
100
3.43
7.66
14.6
7.2
25.1
24.9
mmol/l
0.09
30
100
62
315
2.53
7.34
5.5
2.4
346.9
7400.4
umol/l
1.78
52
275
60
309
2.46
6.83
3.3
1.9
4.0
3.2
mg/l
1.40
53
274
25
81
3.45
6.64
2.0
1.5
—
—
—
0
0
72
411
2.32
6.43
5.9
3.3
2.3
2.3
mmol/l
0.77
62
367
9
7
13.49
5.65
3.8
2.4
28.4
28.4
umol/l
—
9
7
12
25
5.09
5.59
1.1
1.6
—
—
—
0
0
79
490
2.16
5.57
4.9
2.2
73.4
75.6
nmol/l
0.28
70
436
42
203
2.43
5.35
1.8
1.9
—
—
—
0
0
8
6
13.90
5.13
3.6
2.2
—
—
—
0
0
82
532
2.06
4.99
6.4
2.5
382.3
114.7
ug/l
1.68
74
484
14
37
4.04
4.92
4.8
12.4
21.9
24.6
mmol/l
0.97
14
26
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
12
29
4.38
4.71
5.5
2.8
0.3
0.3
u/ml
—
7
18
50
275
2.16
4.65
2.1
1.5
21.6
20.7
nmol/l
0.15
39
231
32
145
2.49
4.64
1.8
1.9
—
—
—
0
0
12
30
4.23
4.52
1.7
1.6
—
—
—
0
0
32
148
2.44
4.44
1.8
1.9
—
—
—
0
0
11
27
4.29
4.23
1.2
1.3
—
—
—
0
0
11
27
4.29
4.23
1.2
1.3
—
—
—
0
0
108
811
1.93
3.98
6.5
3.0
59.3
44.4
u/l
1.04
100
760
12
34
3.72
3.84
1.2
1.7
—
—
—
0
0
12
34
3.72
3.84
1.2
1.6
—
—
—
0
0
7
8
9.06
3.81
3.0
2.4
108.1
107.2
%
—
7
8
46
263
2.03
3.80
4.9
1.6
10.6
1.0
mg/l
1.31
36
198
(40770918) von Willebrand factor (vWf).activity actual/normal in Platelet poor plasma by Immunoassay
6
5
12.37
3.79
1.7
3.2
151.2
121.0
%
—
6
5
6
5
12.37
3.79
1.0
1.0
—
—
—
0
0
68
447
1.88
3.72
5.8
3.6
88.9
45.6
ng/l
0.63
57
311
72
489
1.83
3.51
7.4
3.3
—
—
—
0
0
28
137
2.25
3.41
5.4
3.0
8.2
8.5
umol/l
0.04
19
118
8
14
5.94
3.38
1.5
1.1
—
—
—
0
0
11
33
3.50
3.25
1.8
1.4
—
—
—
0
0
49
301
1.89
3.24
2.4
1.6
1.8
1.4
mmol/l
1.84
42
252
20
86
2.50
3.22
2.1
2.7
50.4
76.7
ml/min/173m2
—
8
32
6
8
7.72
3.08
1.2
1.1
—
—
—
0
0
19
82
2.49
3.04
15.4
5.3
94.3
94.3
%
0.03
19
82
8
18
4.61
2.83
1.3
1.4
—
—
—
0
0
28
148
2.07
2.82
11.2
6.7
—
—
—
0
0
15
62
2.56
2.62
4.7
9.2
8.7
9.2
kpa
0.55
15
56
9
25
3.74
2.61
1.2
1.6
—
—
—
0
0
8
20
4.14
2.60
1.6
1.4
—
—
—
0
0
16
69
2.46
2.57
1.8
1.6
—
—
—
0
0
56
382
1.70
2.55
6.7
3.2
0.5
0.3
e6/l
0.32
48
286
52
348
1.72
2.53
3.7
3.1
4043.9
1567.5
ng/l
0.82
41
289
45
289
1.76
2.53
5.1
2.1
—
—
—
0
0
45
290
1.75
2.50
1.3
1.3
1.1
1.6
u/ml
0.24
14
65
27
148
1.98
2.47
13.6
5.5
5.0
5.1
kpa
0.26
27
141
27
148
1.98
2.47
13.6
5.5
11.6
11.8
kpa
0.07
27
142
23
119
2.08
2.45
8.3
3.5
—
—
—
0
0
27
149
1.97
2.42
5.4
4.1
28.2
32.5
%
0.91
17
97
36
225
1.76
2.21
5.5
3.1
2.0
1.5
e6/l
0.29
18
126
7
21
3.43
1.99
1.1
1.4
—
—
—
0
0
7
21
3.43
1.99
1.3
1.3
—
—
—
0
0
5
11
4.65
1.95
1.0
1.2
—
—
—
0
0
5
11
4.65
1.95
1.0
1.2
—
—
—
0
0
5
11
4.65
1.95
1.0
1.2
—
—
—
0
0
5
11
4.65
1.95
1.0
1.2
—
—
—
0
0
5
11
4.65
1.95
1.0
1.2
—
—
—
0
0
26
153
1.83
1.94
2.2
2.3
1.5
1.4
%
0.31
20
136
108
912
1.52
1.79
5.1
3.7
14.8
14.8
pmol/l
0.03
97
825
12
57
2.19
1.59
4.3
3.4
58.6
50.6
%
0.41
12
57
10
44
2.35
1.56
2.7
3.1
—
—
—
0
0
8
33
2.49
1.56
1.9
1.4
—
—
—
0
0
9
37
2.51
1.50
1.3
1.1
—
—
—
0
0
92
776
1.41
1.38
13.5
9.1
3.9
4.0
e9/l
0.09
87
679
142
1303
1.58
1.33
33.1
13.5
23.3
25.0
mg/l
0.27
123
1009
6
25
2.45
1.25
1.5
1.6
—
—
—
0
0
34
242
1.51
1.25
5.1
3.0
0.5
0.8
e6/l
0.37
17
143
70
572
1.38
1.23
8.3
4.0
—
—
—
0
0
11
57
1.99
1.20
14.0
2.5
0.8
1.4
%
1.54
11
57
44
338
1.41
1.10
7.3
4.4
0.0
0.0
estimate
0.00
15
112
31
224
1.47
1.07
4.7
3.6
494.7
736.3
ng/l
0.28
20
163
13
75
1.79
1.06
1.3
1.3
—
—
—
0
0
126
1149
1.39
1.03
5.8
4.2
2.0
1.9
mu/l
0.43
113
1028
0
29
0.00
0.98
0.0
1.3
—
—
—
0
0
0
31
0.00
0.97
0.0
1.5
—
—
—
0
0
129
1186
1.38
0.96
32.4
13.7
37.8
39.3
%
1.22
81
868
7
130
0.52
0.92
1.7
2.2
—
—
—
0
0
71
608
1.29
0.85
7.9
5.2
0.0
0.0
estimate
0.00
16
114
18
255
0.67
0.82
1.6
1.7
—
—
—
0
0
122
1123
1.32
0.82
9.6
5.2
44.1
39.6
mmol/mol
2.80
109
1047
71
612
1.28
0.80
6.4
3.9
0.0
0.0
estimate
0.00
17
115
6
33
1.85
0.80
2.5
1.5
—
—
—
0
0
6
34
1.79
0.77
1.2
1.1
—
—
—
0
0
9
146
0.59
0.73
1.8
2.3
—
—
—
0
0
5
26
1.95
0.71
1.2
1.6
—
—
—
0
0
71
621
1.25
0.69
6.4
3.9
0.0
0.0
estimate
0.00
15
112
7
43
1.65
0.67
2.0
1.9
—
—
—
0
0
5
29
1.75
0.64
1.2
1.3
—
—
—
0
0
5
30
1.69
0.62
1.4
1.5
—
—
—
0
0
0
22
0.00
0.60
0.0
1.5
—
—
—
0
0
0
23
0.00
0.58
0.0
1.3
—
7.8
—
0
17
0
23
0.00
0.58
0.0
1.4
—
—
—
0
0
6
35
1.74
0.58
1.2
1.1
—
—
—
0
0
75
831
0.82
0.57
3.7
3.3
—
—
—
0
0
103
951
1.21
0.56
5.9
4.1
20.9
11.7
mm/h
3.23
88
875
123
1157
1.24
0.55
5.8
3.6
1.6
1.3
mmol/l
2.53
111
1046
9
62
1.48
0.54
1.6
1.3
—
—
—
0
0
6
39
1.56
0.53
1.8
1.8
—
—
—
0
0
142
1363
1.27
0.48
18.8
9.5
26.1
25.5
u/l
0.16
136
1315
126
1195
1.22
0.48
6.4
4.0
1.3
1.5
mmol/l
2.72
113
1088
122
1154
1.21
0.47
29.2
12.3
74.3
81.5
ml/min/173m2
1.84
105
924
31
366
0.81
0.44
4.7
4.5
20.7
21.1
%
0.04
12
180
126
1201
1.20
0.42
6.4
4.0
4.3
4.6
mmol/l
1.99
114
1103
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
129
1233
1.20
0.41
6.5
4.4
2.5
2.7
mmol/l
2.66
116
1120
0
17
0.00
0.41
0.0
1.5
—
—
—
0
0
6
44
1.38
0.35
1.3
1.8
—
—
—
0
0
11
85
1.31
0.29
1.6
1.8
—
—
—
0
0
10
77
1.32
0.26
1.1
1.0
—
—
—
0
0
5
40
1.26
0.22
1.0
1.6
—
—
—
0
0
5
42
1.20
0.21
2.2
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
15
176
0.84
0.21
1.5
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
3.9
—
—
—
0
0
112
1097
1.06
0.10
39.3
16.2
14.3
13.7
%
3.25
112
1076
50
480
1.06
0.09
7.0
4.0
—
—
—
0
0
23
214
1.09
0.09
1.2
1.4
9.4
33.3
iu/ml
—
6
78
120
1192
1.02
0.01
6.3
4.3
6.4
5.9
mmol/l
2.09
107
1080
21
203
1.04
0.01
1.2
1.4
38.4
12.9
u/ml
—
5
86
0
7
0.00
0.00
0.0
1.9
—
28.9
—
0
7
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
2.6
—
11.5
—
0
5
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
45
450
1.00
0.00
4.7
4.8
1.9
2.9
ug/l
0.52
33
402
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
7
71
0.99
0.00
1.9
1.7
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
8.0
—
0
8
Mortality – FinRegistry
↥Association
Association between endpoint E4_AMINO and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_AMINO | 2.512 [1.93, 3.26] | < 0.001 |
| Birth year | 0.993 [0.98, 1.0] | 0.091 |
During the follow-up period (1.1.1998 — 31.12.2019), 205 out of 578 females with E4_AMINO died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_AMINO | 3.747 [2.76, 5.09] | < 0.001 |
| Birth year | 0.986 [0.98, 1.0] | 0.005 |
During the follow-up period (1.1.1998 — 31.12.2019), 230 out of 601 males with E4_AMINO died.
Mortality risk
Mortality risk for people of age
years, who have E4_AMINO.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.268% | 0.683% |
| 5 | 1.525% | 4.062% |
| 10 | 3.659% | 10.004% |
| 15 | 6.716% | 18.481% |
| 20 | 11.084% | 29.844% |
Relationships between endpoints
↥Index endpoint: E4_AMINO – Other disorders of 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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