No definition available.
Disorders of sphingolipid metabolism and other lipid storage disorders
E4_SPHINGOLIP
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. |
- |
4. Check minimum number of eventsNone |
- |
5. Include endpoints |
128 |
6. Filter based on genotype QC (FinnGen only) |
128 |
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 sphingolipidorum et aliae perturbationes accumulationis lipidorum
Similar endpoints
↥List of similar endpoints to
Disorders of sphingolipid metabolism and other lipid storage disorders
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 | 1246 | 706 | 535 |
| Only index persons | 803 | 474 | 329 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.01 |
| Only index persons | 0.02 | 0.02 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 36.20 | 39.79 | 31.10 |
| Only index persons | 46.79 | 48.86 | 43.80 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 128 | 80 | 48 |
| Unadjusted period prevalence (%) | 0.02 | 0.03 | 0.02 |
| Median age at first event (years) | 54.70 | 53.33 | 57.00 |
-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
- 119
- Matched controls
- 1188
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E75.2
ICD-10 Finland
Other sphingolipidosis
+∞
64.6
56
*
E75.5
ICD-10 Finland
Other lipid storage disorders
+∞
21.5
20
*
N08.4*E75.2
ICD-10 Finland
Glomerular disorders in Fabry(-Anderson) disease
+∞
19.3
18
*
E75.6
ICD-10 Finland
Lipid storage disorder, unspecified
+∞
19.3
18
*
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
21.8
17.9
26
15
N08.4
ICD-10 Finland
Glomerular disorders in other endocrine, nutritional and metabolic diseases
+∞
12.7
12
*
Z31.5
ICD-10 Finland
Genetic counselling
10.4
12.3
24
28
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
7.4
12.1
30
52
ZX120
NOMESCO Finland
Intravenous
7.8
10.8
25
39
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
5.0
10.4
36
94
195
Kela drug reimbursment
Agalsidase alfa, agalsidase beta and migalastat
+∞
9.5
9
*
WX892
NOMESCO Finland
Monitored bed care
7.3
8.8
21
34
E75.0
ICD-10 Finland
GM2gangliosidosis
+∞
8.4
8
*
XF402
NOMESCO Finland
ECG with work load test
5.3
8.3
26
60
FM1DG
NOMESCO Finland
Very extensive MRI examination of heart with high intesity magnet
24.0
8.2
11
5
TPH04
NOMESCO Finland
Cathetrisation of vein
3.9
8.0
36
119
336
Kela drug reimbursment
Agalsidase alfa, agalsidase beta and migalastat
+∞
7.4
7
*
E75.3
ICD-10 Finland
Sphingolipidosis, unspecified
+∞
7.4
7
*
151
Kela drug reimbursment
Eliglustat, imiglucerase and velaglucerase alfa
+∞
7.4
7
*
B01AC04
ATC
clopidogrel; oral
5.0
7.2
23
54
XF404
NOMESCO Finland
Ambulatory ECG
5.2
6.9
21
47
E78.9
ICD-10 Finland
Disorder of lipoprotein metabolism, unspecified
42.5
6.8
8
*
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
24.1
6.8
9
*
XF400
NOMESCO Finland
ECG with 12 standard connections
3.9
6.6
28
87
C10AA01
ATC
simvastatin; oral
2.8
6.6
58
303
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.7
6.4
59
315
XFE00
NOMESCO Finland
Epicardial ultrasonography
19.3
6.4
9
5
A16AB04
ATC
agalsidase beta; parenteral
+∞
6.3
6
*
333
Kela drug reimbursment
Eliglustat, imiglucerase and velaglucerase alfa
+∞
6.3
6
*
6AB04
NOMESCO Finland
NA
+∞
6.3
6
*
E75.4
ICD-10 Finland
Neuronal ceroid lipofuscinosis
+∞
6.3
6
*
E75.1
ICD-10 Finland
Other gangliosidosis
+∞
6.3
6
*
C10AX09
ATC
ezetimibe; oral
5.7
6.2
17
34
M04AA01
ATC
allopurinol; systemic
4.3
6.0
22
60
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
(3012516) Albumin [Mass/volume] in Urine
62
252
3.83
12.67
4.8
3.0
mg/l
1016.1
279.1
0.34
51
164
(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)
27
65
5.00
10.99
3.7
2.0
ml/min/173m2
83.8
74.2
0.47
17
22
(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma
58
246
3.48
10.77
4.7
3.5
ng/l
894.8
986.9
0.11
53
209
(3020682) Albumin/Creatinine [Ratio] in Urine
61
271
3.39
10.45
5.6
3.6
mg/mmol
18.9
5.0
0.95
49
165
(42870588) Differential panel, method unspecified - Blood
68
328
3.29
10.08
6.2
5.5
—
—
—
0
0
(3009508) Creatinine [Moles/volume] in Urine
60
283
3.11
9.02
5.1
2.7
mmol/l
7.4
8.1
0.55
54
235
(3012544) pH of Venous blood
24
68
4.11
7.87
7.3
3.1
—
—
—
0
0
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
67
357
2.84
7.79
4.3
3.2
ng/l
27.2
46.3
0.74
45
233
(3002032) Base excess in Venous blood by calculation
23
67
3.97
7.24
7.4
2.9
mmol/l
1.7
2.6
0.54
17
49
(40763571) Iron/Transferrin [Ratio] in Serum or Plasma
31
115
3.24
6.79
5.1
1.8
%
23.0
23.4
0.04
26
98
(3002030) Lymphocytes/100 leukocytes in Blood
81
505
2.64
6.52
7.3
5.5
%
26.6
28.5
0.74
75
468
(3026782) Osmolality of Urine
41
183
2.83
6.48
3.4
2.4
mosm/kgh2o
504.6
563.8
1.06
36
148
(3037756) Immunofixation for Serum or Plasma
10
15
7.15
6.41
1.5
1.3
—
—
—
0
0
(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
14
31
4.95
6.15
2.1
1.5
—
—
—
0
0
(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
14
31
4.95
6.15
2.1
1.5
g/l
4.3
3.7
—
8
22
(3005229) Alpha 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
14
31
4.95
6.15
2.1
1.5
g/l
7.2
8.0
—
9
22
(3018010) Neutrophils/100 leukocytes in Blood
79
499
2.52
6.00
7.1
5.3
%
58.6
56.5
0.71
74
465
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
72
441
2.45
5.78
13.6
6.3
mmol/l
1.2
1.2
0.32
62
373
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
37
171
2.64
5.37
5.5
3.2
ng/l
436.8
257.9
0.27
30
120
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
59
345
2.32
5.09
3.9
2.6
—
—
—
0
0
(3001604) Monocytes [#/volume] in Blood
78
517
2.30
4.95
7.1
5.1
e9/l
0.6
0.6
0.25
69
454
(3023368) Bacteria identified in Blood by Culture
44
229
2.40
4.93
6.2
4.4
—
—
—
0
0
(3006315) Basophils [#/volume] in Blood
78
518
2.29
4.92
7.1
5.2
e9/l
0.0
0.0
0.18
69
458
(3013115) Eosinophils [#/volume] in Blood
79
536
2.24
4.62
7.2
5.3
e9/l
0.2
0.2
0.85
69
481
(3012095) Magnesium [Moles/volume] in Serum or Plasma
31
141
2.58
4.59
4.8
4.4
mmol/l
0.8
0.8
0.00
31
128
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
64
402
2.18
4.50
12.2
6.3
mmol/l
1.2
1.2
0.31
59
361
(3029713) Protein.monoclonal band 1 [Mass/volume] in Serum or Plasma by Electrophoresis
11
26
4.53
4.45
2.5
1.7
g/l
1.0
1.3
0.12
11
21
(3030467) Casts [#/volume] in Urine by Automated count
48
271
2.23
4.38
3.9
2.5
e6/l
0.4
0.5
0.03
42
200
(3013826) Glucose [Moles/volume] in Serum or Plasma
79
544
2.18
4.35
4.9
5.1
mmol/l
6.8
6.6
0.26
73
505
(3018418) pH of Serum or Plasma
47
264
2.23
4.33
12.0
3.0
ph
7.4
7.4
—
7
49
(3000991) Gas panel - Venous blood
18
63
3.16
4.26
12.4
10.5
—
—
—
0
0
(3019198) Lymphocytes [#/volume] in Blood
78
539
2.14
4.20
7.2
5.2
e9/l
1.8
1.8
0.28
69
485
(3004588) Protein electrophoresis panel - Serum or Plasma
15
49
3.33
3.95
2.4
1.6
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
46
266
2.14
3.88
3.8
2.4
—
—
—
0
0
(3032080) INR in Blood by Coagulation assay
57
366
2.00
3.58
12.3
6.7
inr
1.6
1.2
—
9
112
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
100
788
2.23
3.51
5.1
3.7
pmol/l
14.7
14.8
0.05
93
701
(3037467) Urinalysis macro (dipstick) panel - Urine
91
694
2.08
3.45
6.3
3.9
—
—
—
0
0
(3024928) Oxygen saturation in Venous blood
7
10
7.33
3.41
2.0
4.7
—
—
—
0
0
(3002582) Erythrocytes [#/volume] in Urine
49
306
1.97
3.27
4.1
2.5
e6/l
21.5
269.6
0.63
43
237
(3018095) Leukocytes [#/volume] in Urine
55
358
1.94
3.25
4.9
3.1
e6/l
40.4
69.7
0.60
44
255
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
22
100
2.45
3.22
1.8
1.6
—
—
—
0
0
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
28
142
2.24
3.21
3.2
2.4
e6/l
2.5
1.8
0.18
20
79
(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma
86
655
1.95
3.12
4.7
2.9
u/l
46.0
42.6
0.17
80
618
(3030905) Polymorphonuclear cells [#/volume] in Blood
8
16
5.26
3.10
3.4
2.6
e9/l
3.2
4.5
—
8
16
(3016251) Hemoglobin.gastrointestinal [Presence] in Stool
14
51
2.96
3.10
2.4
2.3
—
—
—
0
0
(3000850) Epithelial cells [#/volume] in Urine
37
214
2.03
3.04
3.3
2.2
e6/l
4.5
6.1
0.64
32
185
(3017817) Protein [Mass] in Urine collected for unspecified duration
5
5
10.33
3.00
2.4
1.2
—
—
—
0
0
(3032035) Polymorphonuclear cells/100 leukocytes in Blood
8
17
4.94
2.97
3.4
3.8
%
54.5
57.7
—
8
17
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
28
147
2.16
2.95
1.7
1.7
—
—
—
0
0
(40760888) Immunoglobulin light chains.free panel - Serum
7
13
5.63
2.91
2.1
1.9
—
—
—
0
0
(3001122) Ferritin [Mass/volume] in Serum or Plasma
62
433
1.84
2.87
4.8
2.4
ug/l
149.1
93.7
1.16
56
397
(3021589) Normoblasts [#/volume] in Blood
63
444
1.82
2.82
13.3
8.7
e9/l
0.0
0.0
0.50
54
359
(3026493) Urate [Moles/volume] in Serum or Plasma
40
244
1.93
2.80
3.6
2.3
umol/l
355.1
5851.5
1.07
34
200
(3013650) Neutrophils [#/volume] in Blood by Automated count
79
605
1.80
2.61
10.2
8.7
e9/l
5.2
3.8
0.61
72
539
(3038515) Glucose [Moles/volume] in Venous blood
7
16
4.56
2.51
5.1
2.9
mmol/l
5.9
7.8
—
7
16
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
20
99
2.21
2.42
1.9
1.6
—
—
—
0
0
(3008037) Lactate [Moles/volume] in Venous blood
7
17
4.29
2.39
5.1
2.8
mmol/l
1.5
1.7
—
7
17
(3026389) Candida sp identified in Specimen by Organism specific culture
6
13
4.78
2.30
1.5
1.2
—
—
—
0
0
(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation
12
48
2.66
2.26
2.9
3.8
mmol/l
0.5
2.1
—
6
39
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
12
48
2.66
2.26
1.2
1.3
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
61
447
1.70
2.24
3.3
4.4
—
—
—
0
0
(3019230) Fractional oxyhemoglobin in Venous blood
5
9
5.73
2.23
1.6
2.7
%
68.0
58.5
—
5
9
(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma
68
514
1.69
2.22
6.9
6.6
umol/l
13.0
11.3
0.46
61
484
(3022313) Gas panel - Capillary blood
10
37
2.85
2.16
3.0
3.9
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
41
277
1.71
1.99
2.0
2.4
—
—
—
0
0
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
10
39
2.70
1.97
9.1
27.4
—
—
—
0
0
(3044889) 12 lead EKG panel
83
679
1.63
1.86
5.2
3.6
—
—
—
0
0
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
26
157
1.82
1.84
3.2
2.3
e6/l
0.6
0.7
0.21
18
93
(3023024) Carbon dioxide [Partial pressure] in Capillary blood
12
54
2.35
1.80
3.3
3.5
kpa
5.0
5.3
0.90
12
49
(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing
6
18
3.44
1.77
1.3
1.6
—
—
—
0
0
(3000492) Spirometry study
18
99
1.95
1.67
1.3
1.6
—
—
—
0
0
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
51
383
1.55
1.58
2.1
1.8
pmol/l
92.8
101.0
0.65
28
197
(3019309) Folate [Moles/volume] in Red Blood Cells
28
181
1.70
1.57
1.5
1.7
nmol/l
1146.3
1277.2
0.30
21
138
(3024889) Methemoglobin/Hemoglobin.total in Venous blood
9
37
2.54
1.51
2.0
2.4
%
0.4
0.8
—
9
37
(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma
41
296
1.57
1.49
2.7
2.4
u/l
64.8
55.5
0.28
36
267
(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood
9
38
2.47
1.49
2.1
2.4
%
0.9
1.3
—
9
38
(3009261) Glucose [Presence] in Urine by Test strip
64
510
1.51
1.48
4.5
3.3
estimate
0.0
0.0
—
9
92
(3035350) Ketones [Presence] in Urine by Test strip
63
502
1.50
1.45
4.5
3.3
estimate
0.0
0.0
—
10
98
(3000330) Specific gravity of Urine by Test strip
9
40
2.34
1.43
6.0
3.2
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
18
106
1.81
1.38
1.5
1.4
—
—
—
0
0
(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum
0
38
0.00
1.37
0.0
1.6
—
256.3
—
0
22
(3014765) Yersinia sp identified in Stool by Organism specific culture
0
37
0.00
1.37
0.0
1.2
—
—
—
0
0
(42529406) Shigella sp [Presence] in Stool by Culture
0
37
0.00
1.37
0.0
1.2
—
—
—
0
0
(4094501)
6
24
2.57
1.32
1.0
1.0
—
—
—
0
0
(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma
17
100
1.81
1.31
2.4
3.1
umol/l
13.3
7.4
0.54
12
89
(3021601) Nitrite [Presence] in Urine by Test strip
62
501
1.46
1.29
6.9
4.6
estimate
0.0
0.0
—
10
96
(1761482) Bacteria [#/volume] in Urine by Culture
6
25
2.47
1.26
7.0
3.7
—
—
—
0
0
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
6
25
2.47
1.26
1.5
1.2
—
—
—
0
0
(3043409) Potassium [Moles/volume] in Arterial blood
0
33
0.00
1.18
0.0
3.5
—
3.8
—
0
28
(3020891) Body temperature
0
34
0.00
1.18
0.0
3.8
—
—
—
0
0
(36305247) Microscopic observation [Identifier] in Isolate by Gram stain
5
20
2.56
1.16
1.0
1.5
—
—
—
0
0
(3006418) Campylobacter sp identified in Tissue by Organism specific culture
0
36
0.00
1.16
0.0
1.3
—
—
—
0
0
(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma
26
180
1.56
1.12
1.7
1.8
pmol/l
407.8
446.7
0.35
18
154
(3026008) Bacteria identified in Urine by Culture
40
305
1.45
1.10
3.7
2.6
—
—
—
0
0
(3024891) Influenza virus A+B Ag [Presence] in Specimen
5
21
2.43
1.10
1.0
1.0
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
29
209
1.50
1.05
1.8
2.5
—
—
—
0
0
(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection
5
22
2.32
1.04
1.0
1.5
—
—
—
0
0
(3015235) Bicarbonate [Moles/volume] in Capillary blood
5
22
2.32
1.04
2.8
2.9
mmol/l
21.8
26.9
—
5
14
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
112
1037
1.64
1.04
22.4
12.1
mg/l
26.6
21.1
0.91
92
786
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
11
61
1.88
1.02
2.5
1.5
—
—
—
0
0
(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood
7
36
2.00
0.98
7.3
2.5
%
46.2
50.5
—
7
36
(4010399)
13
78
1.74
0.95
1.7
1.3
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
15
94
1.67
0.95
4.4
3.0
—
—
—
0
0
(3052851) Hemolysis interference index of Serum or Plasma
6
29
2.12
0.90
2.8
2.9
—
—
—
0
0
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
6
29
2.12
0.90
3.0
2.1
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
38
297
1.40
0.90
4.1
2.9
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
20
139
1.52
0.86
2.0
2.4
—
—
—
0
0
(3045414) Leukocytes [Presence] in Urine
6
31
1.98
0.85
2.2
1.4
—
—
—
0
0
(3017895) Helicobacter pylori Ab [Units/volume] in Serum
6
31
1.98
0.85
1.0
1.6
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
9
150
0.57
0.85
2.1
2.4
—
—
—
0
0
(3009201) Thyrotropin [Units/volume] in Serum or Plasma
103
949
1.44
0.84
6.7
4.4
mu/l
1.9
1.9
0.11
98
851
(3022145) Colonoscopy Study observation
16
106
1.58
0.83
1.4
1.3
—
—
—
0
0
(3003396) Base excess in Arterial blood by calculation
14
90
1.62
0.82
6.9
14.2
mmol/l
2.3
1.6
—
8
74
(21494755) Public health laboratory ask at order entry panel
5
97
0.50
0.82
1.6
1.3
—
—
—
0
0
(40758558) Short blood count panel - Blood
33
256
1.39
0.82
9.5
6.0
—
—
—
0
0
(3013742) Prealbumin [Mass/volume] in Serum or Plasma
12
75
1.66
0.78
2.0
2.5
g/l
0.2
0.2
0.14
12
70
(3003327) Ova and parasites identified in Stool by Light microscopy
6
34
1.80
0.77
1.3
1.6
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
9
142
0.61
0.75
2.0
2.1
—
—
—
0
0
(3023323) Follitropin [Units/volume] in Serum or Plasma
7
38
1.89
0.75
2.4
1.3
iu/l
47.2
25.9
—
7
32
(3031040) Bacteria [#/volume] in Urine by Automated count
75
666
1.30
0.73
6.0
4.0
—
4557.7
—
0
14
(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum
5
27
1.89
0.69
1.2
1.2
—
—
—
0
0
(3050238) Crystals [Presence] in Synovial fluid by Light microscopy
5
27
1.89
0.69
1.6
1.1
—
—
—
0
0
(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting
102
949
1.37
0.69
5.9
3.8
mmol/l
1.5
1.2
2.20
96
867
(3027475) Erythrocytes [#/volume] in Cerebral spinal fluid
5
28
1.82
0.67
1.2
1.2
e6/l
2.2
332.1
—
5
23
(3016543) Leukocytes [#/volume] in Cerebral spinal fluid
5
28
1.82
0.67
1.2
1.0
e6/l
1.4
4.0
—
5
23
(3013512) EKG study
35
284
1.32
0.65
6.1
3.2
—
—
—
0
0
(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay
5
29
1.75
0.64
1.4
2.0
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
13
88
1.53
0.63
1.4
1.8
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
103
964
1.35
0.63
26.3
12.6
%
38.6
40.1
0.82
76
708
(3025941) Bacteria identified in Stool by Culture
8
50
1.64
0.62
1.1
1.2
—
—
—
0
0
(44816559) Phosphatidylethanol [Mass/volume] in Blood
0
22
0.00
0.60
0.0
1.2
—
—
—
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
8
53
1.54
0.59
1.6
1.6
—
—
—
0
0
(3025839) Triglyceride [Moles/volume] in Serum or Plasma
21
270
0.73
0.59
1.9
1.5
mmol/l
1.4
1.3
0.22
21
220
(3000494) Fungus identified in Specimen by Culture
15
108
1.44
0.56
1.5
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)
102
960
1.31
0.54
20.5
10.8
ml/min/173m2
80.8
83.0
0.32
87
759
(3011397) Hemoglobin [Presence] in Urine by Test strip
27
219
1.30
0.51
4.3
3.5
—
—
—
0
0
(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood
11
76
1.49
0.50
19.3
3.4
mmol/l
1.2
1.2
0.13
11
66
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
60
663
0.82
0.48
3.4
3.3
—
—
—
0
0
(3013139) Helicobacter pylori Ag [Presence] in Stool
8
59
1.38
0.42
1.6
1.2
—
—
—
0
0
(4268621)
0
15
0.00
0.41
0.0
1.8
—
—
—
0
0
(40768800) Prostate Pathology biopsy report
0
15
0.00
0.41
0.0
1.2
—
—
—
0
0
(3007080) Epstein Barr virus nuclear IgG Ab [Units/volume] in Serum
0
16
0.00
0.41
0.0
1.3
—
136.7
—
0
9
(3025130) Human papilloma virus identified in Specimen
0
17
0.00
0.41
0.0
1.9
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
38
330
1.22
0.41
3.9
2.6
—
—
—
0
0
(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay
0
18
0.00
0.40
0.0
1.3
—
—
—
0
0
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
18
0.00
0.40
0.0
1.3
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
46
410
1.19
0.37
4.8
3.4
—
—
—
0
0
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
12
90
1.37
0.37
1.5
1.6
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
17
136
1.29
0.36
1.2
1.2
—
—
—
0
0
(3029937) Albumin [Presence] in Urine by Test strip
24
283
0.81
0.35
5.1
3.5
estimate
0.0
0.0
—
9
92
(3008898) HLA-B27 [Presence]
6
44
1.38
0.35
1.0
1.0
—
—
—
0
0
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
103
988
1.22
0.34
5.2
4.3
mmol/l
6.1
5.8
0.98
94
896
(3019150) Specific gravity of Urine by Refractometry
28
241
1.21
0.33
4.6
3.5
kg/l
1.0
1.0
—
9
39
(40768804) Tissue Pathology biopsy report
36
405
0.85
0.33
2.1
2.0
—
—
—
0
0
(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma
26
223
1.21
0.31
2.5
1.8
mg/l
1.1
1.0
0.16
20
174
(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma
103
992
1.20
0.29
6.3
4.0
mmol/l
1.3
1.5
5.19
97
908
(40761535) Cells panel - Urine sediment
9
76
1.20
0.25
3.9
3.2
—
—
—
0
0
(3015377) Calcium [Moles/volume] in Serum or Plasma
38
345
1.14
0.24
2.9
2.9
mmol/l
2.3
2.4
2.25
30
298
(3049717) Cytology report of Urine Cyto stain
5
37
1.37
0.24
2.0
2.4
—
—
—
0
0
(3019225) pH of Specimen
11
88
1.27
0.23
4.7
4.0
—
—
—
0
0
(36660697) Celiac disease serology panel - Serum
7
94
0.73
0.23
1.0
1.2
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
111
1082
1.19
0.22
21.2
11.1
—
—
—
0
0
(21494670) JAK2 gene exon 14 targeted mutation analysis in Blood or Tissue by Molecular genetics method
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
(3009595) Pneumocystis jiroveci DNA [Presence] in Specimen by NAA with probe detection
0
11
0.00
0.21
0.0
1.6
—
—
—
0
0
(3023419) Bacteria identified in Sputum by Culture
0
10
0.00
0.21
0.0
2.1
—
—
—
0
0
(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count
0
10
0.00
0.21
0.0
2.9
—
—
—
0
0
(3035320) C reactive protein [Mass/volume] in Body fluid
0
10
0.00
0.21
0.0
1.8
—
—
—
0
0
(3014959) Toxoplasma gondii IgG Ab [Units/volume] in Serum
0
10
0.00
0.21
0.0
2.9
—
—
—
0
0
(3000093) Morphology [Interpretation] in Blood Narrative
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
(3027529) Toxoplasma gondii IgM Ab [Units/volume] in Serum
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
(3022806) Fractional oxyhemoglobin in Capillary blood
0
12
0.00
0.21
0.0
1.1
—
91.9
—
0
12
(3049539) Genetic diseases [Identifier] in Blood or Tissue by FISH Nominal
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
(3028167) CD3+CD4+ (T4 helper) cells [#/volume] in Blood
0
13
0.00
0.21
0.0
1.7
—
598.0
—
0
7
(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method
0
13
0.00
0.21
0.0
1.7
—
—
—
0
0
(3013327) Hepatitis A virus IgM Ab [Presence] in Serum
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
(3005570) Glucose [Moles/volume] in Urine
0
13
0.00
0.21
0.0
2.2
—
—
—
0
0
(3014007) Fractional oxyhemoglobin in Arterial blood
6
49
1.24
0.20
14.3
12.9
%
93.3
93.7
—
6
49
(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay
0
14
0.00
0.20
0.0
2.8
—
62.8
—
0
14
(4035726)
10
81
1.25
0.19
1.2
1.4
—
—
—
0
0
(3007164) IgA [Mass/volume] in Serum or Plasma
25
224
1.14
0.19
1.4
1.3
g/l
2.5
2.4
0.16
14
125
(40761536) Microorganisms panel - Urine sediment
11
91
1.23
0.18
4.7
3.5
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
16
183
0.86
0.17
1.3
1.5
—
—
—
0
0
(3022621) pH of Urine by Test strip
8
71
1.14
0.16
2.6
2.6
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
30
275
1.12
0.16
1.3
1.5
—
—
—
0
0
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
6
79
0.75
0.16
2.8
2.0
—
—
—
0
0
(3021879) Hepatitis B virus core Ab [Presence] in Serum
6
80
0.74
0.16
1.3
1.4
—
—
—
0
0
(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma
14
121
1.18
0.16
6.7
4.3
%
28.9
32.3
—
9
72
(3019900) Cholesterol [Moles/volume] in Serum or Plasma
102
998
1.11
0.13
6.5
4.1
mmol/l
4.5
4.7
1.23
96
921
(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma
21
228
0.91
0.11
3.4
4.4
%
25.8
21.2
—
10
117
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
14
155
0.89
0.09
2.5
1.6
—
—
—
0
0
(3019060) Gas panel - Arterial blood
6
56
1.07
0.09
1.2
12.2
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
25
238
1.06
0.05
5.7
4.3
—
—
—
0
0
(3017143) Hepatitis C virus Ab [Presence] in Serum
13
120
1.09
0.05
2.5
1.5
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
21
199
1.07
0.05
1.6
1.6
—
—
—
0
0
(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum
20
190
1.06
0.04
1.1
1.3
u/ml
1.1
6.6
—
8
72
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
12
126
0.95
0.00
4.3
6.8
—
—
—
0
0
(3005013) Prostate Specific Ag Free [Mass/volume] in Serum or Plasma
17
174
0.97
0.00
2.4
3.2
ug/l
0.9
0.7
0.33
11
122
(46235355) HIV 1 and 2 tests - Meaningful Use set
21
205
1.03
0.00
2.3
1.9
—
—
—
0
0
(3002256) Pathology report gross observation
12
125
0.96
0.00
1.1
1.2
—
—
—
0
0
(3019832) Treponema pallidum Ab [Presence] in Serum
11
115
0.95
0.00
1.4
1.7
—
—
—
0
0
(3008536) Aspergillus sp Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3011544) Albumin [Mass/volume] in Pleural fluid
0
5
0.00
0.00
0.0
1.0
—
19.6
—
0
5
(21493195) Respiratory pathogens DNA and RNA tested for in Respiratory system specimen by NAA with probe detection
0
5
0.00
0.00
0.0
2.6
—
—
—
0
0
(3022803) Oxygen [Partial pressure] adjusted to patient's actual temperature in Arterial blood
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
(3030429) Borrelia sp DNA [Identifier] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3036071) Salmonella sp Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
(3011391) Calcitriol [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(4146454)
0
8
0.00
0.00
0.0
1.8
—
—
—
0
0
(3009550) Parvovirus B19 IgG Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
(3017569) Oxygen content in Arterial blood
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
(3045156) Carbon dioxide [Partial pressure] adjusted to patient's actual temperature in Arterial blood
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
(3025018) Bordetella pertussis Ab [Titer] in Serum
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3026515) Parvovirus B19 IgM Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3024263) Appearance of Synovial fluid
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(40768795) Lymph node Pathology biopsy report
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(40758895) Direct antiglobulin test.complement C3d specific reagent [Presence] on Red Blood Cells
0
6
0.00
0.00
0.0
2.7
—
—
—
0
0
(3053028) Streptococcus sp identified in Specimen by Organism specific culture
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
(3021125) Hepatitis C virus RNA [Presence] in Serum or Plasma by NAA with probe detection
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
(3015183) Erythrocyte sedimentation rate
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(40758897) Direct antiglobulin test.IgG specific reagent [Presence] on Red Blood Cells
0
6
0.00
0.00
0.0
2.7
—
—
—
0
0
(3045066) Thymidine kinase [Enzymatic activity/volume] in Serum
0
6
0.00
0.00
0.0
1.7
—
29.7
—
0
6
(3013727) Leukocytes other/100 leukocytes in Blood
0
7
0.00
0.00
0.0
3.1
—
62.8
—
0
7
(40757349) CD3+CD4+ (T4 helper) cells/CD3+CD8+ (T8 suppressor cells) cells [# Ratio] in Blood
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3034603) RHD gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3032773) Endomysium IgG Ab [Titer] in Serum
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3035933) Granulocytes/100 leukocytes in Blood
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.4
—
99.6
—
0
7
(3028433) Virus identified in Specimen by Culture
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3044242) Glucose [Moles/volume] in Arterial blood
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
(3005322) IgE [Units/volume] in Serum or Plasma
6
59
1.02
0.00
1.2
1.2
u/ml
2527.2
182.1
—
6
52
(1617658) Protocol used for examination of sentinel lymph nodes
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint E4_SPHINGOLIP and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_SPHINGOLIP | 3.646 [2.73, 4.87] | < 0.001 |
| Birth year | 0.999 [0.99, 1.01] | 0.732 |
During the follow-up period (1.1.1998 — 31.12.2019), 168 out of 492 females with E4_SPHINGOLIP died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_SPHINGOLIP | 3.928 [2.65, 5.83] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.021 |
During the follow-up period (1.1.1998 — 31.12.2019), 135 out of 358 males with E4_SPHINGOLIP died.
Mortality risk
Mortality risk for people of age
years, who have E4_SPHINGOLIP.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.297% | 0.842% |
| 5 | 2.115% | 4.462% |
| 10 | 5.718% | 11.325% |
| 15 | 11.212% | 20.673% |
| 20 | 19.21% | 34.437% |
Relationships between endpoints
↥Index endpoint: E4_SPHINGOLIP – Disorders of sphingolipid metabolism and other lipid storage disorders
GWS hits: 3
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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