epidermolysis bullosa: a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.
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. |
53 |
4. Check minimum number of eventsNone |
53 |
5. Include endpointsNone |
53 |
6. Filter based on genotype QC (FinnGen only) |
53 |
Control definitions (FinnGen only)
- Control exclude
- Q17_OTHER_CONGEN_MALFO
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF4
- Parent code in ICD-10
- Q8
- Name in latin
- Epidermolysis bullosa
Similar endpoints
↥List of similar endpoints to
Epidermolysis bullosa
based on the number of shared cases.
Similar with more cases:
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 489 | 266 | 222 |
| Only index persons | 416 | 226 | 190 |
| 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 | 22.22 | 27.80 | 15.49 |
| Only index persons | 22.99 | 28.57 | 16.35 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 53 | 32 | 21 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 27.83 | 35.61 | 15.99 |
-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.
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
(3002173) Hemoglobin [Mass/volume] in Arterial blood
12
22
6.76
6.63
19.9
7.0
g/l
116.9
121.4
0.34
12
22
(3027946) Carbon dioxide [Partial pressure] in Arterial blood
13
27
6.05
6.36
18.5
6.9
kpa
5.1
5.3
0.28
13
27
(3027801) Oxygen [Partial pressure] in Arterial blood
13
27
6.05
6.36
18.5
6.9
kpa
10.9
15.4
2.03
13
27
(3016502) Oxygen saturation in Arterial blood
12
26
5.67
5.58
19.9
7.1
%
93.0
97.2
0.53
12
26
(3019060) Gas panel - Arterial blood
9
12
8.76
4.56
20.2
7.5
—
—
—
0
0
(3008152) Bicarbonate [Moles/volume] in Arterial blood
9
13
8.08
4.37
21.7
9.7
mmol/l
22.8
24.6
—
9
13
(3006217) Methemoglobin/Hemoglobin.total in Arterial blood
9
17
6.14
3.69
8.0
5.9
%
0.6
0.8
—
9
17
(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood
9
17
6.14
3.69
8.0
5.9
%
1.2
1.2
—
9
17
(3014007) Fractional oxyhemoglobin in Arterial blood
9
17
6.14
3.69
8.0
5.8
%
89.2
95.3
—
9
17
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
8
14
6.51
3.49
27.9
11.4
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
12
38
3.79
3.46
1.4
1.7
—
—
—
0
0
(3032080) INR in Blood by Coagulation assay
25
126
2.86
3.40
16.6
6.9
inr
1.1
1.1
—
6
39
(36305247) Microscopic observation [Identifier] in Isolate by Gram stain
6
9
7.34
2.95
2.5
1.4
—
—
—
0
0
(3020891) Body temperature
6
10
6.60
2.78
5.5
5.5
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
39
277
2.54
2.33
4.9
4.3
—
—
—
0
0
(3020779) Urea [Moles/volume] in Serum or Plasma
9
30
3.40
2.27
13.8
20.2
mmol/l
8.6
6.2
—
9
30
(3018405) Lactate [Moles/volume] in Arterial blood
5
9
6.00
2.26
2.8
2.4
mmol/l
0.9
1.1
—
5
9
(40768443) Skin Pathology biopsy report
6
14
4.68
2.22
1.0
1.1
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
13
57
2.70
2.18
1.7
2.0
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
11
45
2.82
2.09
3.1
1.8
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
23
135
2.24
2.08
3.2
3.9
—
—
—
0
0
(3024561) Albumin [Mass/volume] in Serum or Plasma
25
154
2.18
1.99
12.0
7.3
g/l
35.3
37.2
0.98
25
147
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
10
40
2.85
1.97
1.6
1.9
—
—
—
0
0
(3029937) Albumin [Presence] in Urine by Test strip
19
105
2.26
1.96
3.9
3.3
estimate
0.0
0.0
—
8
39
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
10
41
2.77
1.88
1.9
1.8
—
—
—
0
0
(3035350) Ketones [Presence] in Urine by Test strip
30
202
2.12
1.88
3.9
3.2
estimate
0.0
0.0
—
8
39
(3023368) Bacteria identified in Blood by Culture
16
84
2.30
1.84
5.6
4.1
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
30
203
2.10
1.84
3.9
3.2
estimate
0.0
0.0
—
8
35
(3044889) 12 lead EKG panel
35
255
2.10
1.72
4.0
3.0
—
—
—
0
0
(3018677) aPTT in Platelet poor plasma by Coagulation assay
12
57
2.43
1.70
4.0
4.9
s
29.5
29.6
0.03
12
57
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
26
172
2.00
1.65
7.0
4.1
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
29
200
1.99
1.63
5.4
4.6
estimate
0.0
0.0
—
8
38
(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay
6
20
3.25
1.63
1.7
2.3
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
7
28
2.72
1.51
5.0
3.7
—
—
—
0
0
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
19
116
1.99
1.48
2.8
2.9
ng/l
21.1
20.1
0.04
14
60
(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay
5
16
3.34
1.47
3.8
11.4
g/l
3.3
2.8
—
5
16
(40761536) Microorganisms panel - Urine sediment
7
29
2.62
1.45
5.4
2.7
—
—
—
0
0
(3030366) Cystatin C [Mass/volume] in Serum or Plasma
6
23
2.81
1.41
4.5
22.4
mg/l
1.0
1.4
—
6
23
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
13
70
2.14
1.39
3.1
2.3
ng/l
60.8
74.2
—
6
39
(3018095) Leukocytes [#/volume] in Urine
22
148
1.83
1.26
4.3
4.4
e6/l
291.1
16.1
0.47
17
105
(3012544) pH of Venous blood
10
51
2.18
1.20
7.8
13.1
—
—
—
0
0
(3004119) Hemoglobin [Mass/volume] in Venous blood
5
20
2.65
1.18
8.4
14.6
g/l
114.6
126.4
—
5
20
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
23
160
1.77
1.16
21.8
10.4
mmol/l
1.2
1.2
2.30
23
148
(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma
11
60
2.05
1.13
1.6
1.6
pmol/l
445.0
521.8
0.43
11
55
(3000991) Gas panel - Venous blood
9
45
2.20
1.12
13.6
10.3
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
10
53
2.09
1.10
3.1
2.4
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
18
118
1.80
1.10
3.1
2.7
—
—
—
0
0
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
7
34
2.22
1.07
1.6
1.4
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
16
102
1.81
1.06
4.3
4.8
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
15
95
1.81
1.01
4.1
3.8
—
—
—
0
0
(3017446) Testosterone [Moles/volume] in Serum or Plasma
0
30
0.00
1.01
0.0
2.1
—
13.2
—
0
30
(3021447) Carbon dioxide [Partial pressure] in Venous blood
9
51
1.92
1.01
7.6
13.1
kpa
5.5
5.7
—
9
51
(3028707) Methadone [Presence] in Urine by Screen method
0
31
0.00
1.00
0.0
1.7
—
—
—
0
0
(40761535) Cells panel - Urine sediment
6
27
2.37
0.97
2.7
3.7
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
14
88
1.80
0.96
5.0
2.5
—
—
—
0
0
(3033658) Prothrombin time (PT) actual/Normal
16
105
1.75
0.96
5.3
6.4
%
83.3
93.8
0.68
16
105
(3002256) Pathology report gross observation
8
42
2.06
0.94
1.5
1.2
—
—
—
0
0
(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction
8
43
2.01
0.92
1.8
4.8
u/l
191.4
256.0
—
8
43
(3024354) Oxygen [Partial pressure] in Venous blood
8
45
1.91
0.89
6.1
13.5
kpa
4.1
5.0
—
8
45
(3019550) Sodium [Moles/volume] in Serum or Plasma
48
431
2.20
0.89
27.8
12.9
mmol/l
139.0
139.7
1.33
48
423
(3023103) Potassium [Moles/volume] in Serum or Plasma
48
431
2.20
0.89
28.1
13.2
mmol/l
3.8
3.9
1.20
48
422
(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma
9
55
1.76
0.79
2.3
2.9
mmol/l
2.4
2.4
—
9
45
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
7
40
1.86
0.75
14.7
15.5
mmol/l
24.7
24.9
—
7
40
(3000492) Spirometry study
7
42
1.77
0.72
1.3
1.5
—
—
—
0
0
(3021879) Hepatitis B virus core Ab [Presence] in Serum
7
42
1.77
0.72
1.3
1.5
—
—
—
0
0
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
48
441
1.94
0.62
22.7
12.9
mg/l
29.4
20.6
0.86
39
309
(3026008) Bacteria identified in Urine by Culture
15
108
1.54
0.62
4.4
2.5
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
21
163
1.48
0.62
3.8
2.9
—
—
—
0
0
(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
19
0.00
0.61
0.0
1.1
—
—
—
0
0
(3010156) C reactive protein [Mass/volume] in Serum or Plasma by High sensitivity method
0
19
0.00
0.61
0.0
1.5
—
2.6
—
0
14
(3048929) Epstein Barr virus Ab [Presence] in Serum
6
34
1.86
0.61
1.3
1.6
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
16
118
1.51
0.59
3.4
3.5
—
—
—
0
0
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
12
84
1.55
0.55
1.5
1.6
—
—
—
0
0
(3007628) Bicarbonate [Moles/volume] standard in Venous blood
6
39
1.61
0.55
7.7
13.7
mmol/l
24.0
23.6
—
6
39
(3019309) Folate [Moles/volume] in Red Blood Cells
7
46
1.60
0.51
2.3
1.5
nmol/l
1381.0
1138.7
—
7
34
(40761511) CBC panel - Blood by Automated count
48
448
1.76
0.50
19.0
11.0
—
—
—
0
0
(3013512) EKG study
5
80
0.59
0.50
1.2
2.9
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
16
123
1.43
0.48
3.2
2.3
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
18
144
1.38
0.43
2.4
2.5
—
—
—
0
0
(3015736) pH of Urine
20
163
1.36
0.43
4.8
3.3
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
20
163
1.36
0.43
6.0
9.6
—
—
—
0
0
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
5
33
1.57
0.42
1.0
1.6
—
—
—
0
0
(3015377) Calcium [Moles/volume] in Serum or Plasma
17
135
1.38
0.42
3.3
3.8
mmol/l
2.3
2.3
0.42
17
123
(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma
42
385
1.44
0.42
3.7
3.6
mmol/l
1.4
1.5
0.44
42
368
(3047007) Chlamydophila sp Ab [Presence] in Serum
0
15
0.00
0.42
0.0
1.1
—
—
—
0
0
(3006418) Campylobacter sp identified in Tissue by Organism specific culture
0
16
0.00
0.42
0.0
1.3
—
—
—
0
0
(3014765) Yersinia sp identified in Stool by Organism specific culture
0
16
0.00
0.42
0.0
1.3
—
—
—
0
0
(42529406) Shigella sp [Presence] in Stool by Culture
0
16
0.00
0.42
0.0
1.3
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
5
34
1.52
0.41
11.2
5.5
—
—
—
0
0
(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma
20
164
1.35
0.41
3.2
3.4
nmol/l
69.9
73.2
0.17
20
152
(3022145) Colonoscopy Study observation
5
36
1.43
0.39
1.4
1.3
—
—
—
0
0
(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma
5
75
0.63
0.39
1.4
2.2
%
2.0
1.4
—
5
70
(3019832) Treponema pallidum Ab [Presence] in Serum
10
73
1.46
0.38
1.5
1.8
—
—
—
0
0
(3019900) Cholesterol [Moles/volume] in Serum or Plasma
42
388
1.40
0.37
3.9
3.6
mmol/l
4.7
4.7
0.09
42
373
(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma
42
389
1.38
0.35
4.3
3.8
mmol/l
3.0
2.8
0.37
42
373
(40768804) Tissue Pathology biopsy report
18
149
1.32
0.34
2.2
1.8
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
45
425
1.39
0.33
25.3
14.8
%
39.7
40.8
0.69
34
367
(3021960) Folate [Moles/volume] in Serum or Plasma
10
76
1.39
0.31
1.1
1.7
nmol/l
17.8
20.8
—
10
66
(3004789) Transferrin [Mass/volume] in Serum or Plasma
8
64
1.29
0.29
5.3
3.0
g/l
2.1
2.6
—
8
59
(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma
33
300
1.26
0.29
4.6
4.0
u/l
60.3
40.2
0.59
33
289
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
13
107
1.28
0.24
2.0
1.7
—
—
—
0
0
(3001019) Free T4 and TSH panel - Serum or Plasma
5
37
1.39
0.24
1.2
1.5
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
41
386
1.27
0.23
3.5
3.5
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
5
42
1.21
0.22
1.2
1.8
—
—
—
0
0
(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method
0
11
0.00
0.21
0.0
1.6
—
—
—
0
0
(3016701) Glucose [Moles/volume] in Serum or Plasma --2 hours post dose glucose
0
11
0.00
0.21
0.0
1.5
—
7.8
—
0
5
(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma
0
11
0.00
0.21
0.0
1.4
—
51.8
—
0
11
(3025018) Bordetella pertussis Ab [Titer] in Serum
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(3042596) Human coronavirus RNA [Presence] in Specimen by NAA with probe detection
0
10
0.00
0.21
0.0
1.5
—
—
—
0
0
(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma
0
10
0.00
0.21
0.0
1.5
—
34.2
—
0
10
(40766183) Gliadin peptide IgA Ab [Units/volume] in Serum by Immunoassay
0
12
0.00
0.21
0.0
1.3
—
5.7
—
0
5
(40758558) Short blood count panel - Blood
15
128
1.24
0.21
5.8
9.2
—
—
—
0
0
(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection
0
13
0.00
0.21
0.0
1.4
—
—
—
0
0
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
0
13
0.00
0.21
0.0
1.3
—
—
—
0
0
(3026493) Urate [Moles/volume] in Serum or Plasma
10
82
1.27
0.18
2.2
4.5
umol/l
323.8
329.8
—
10
76
(3036481) Cortisol [Moles/volume] in Serum or Plasma
7
61
1.17
0.18
1.4
2.2
nmol/l
379.7
348.8
—
7
55
(3017143) Hepatitis C virus Ab [Presence] in Serum
7
87
0.78
0.16
2.1
1.6
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
15
133
1.18
0.14
1.9
2.0
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
14
124
1.18
0.13
1.6
1.5
—
—
—
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)
39
375
1.15
0.11
12.4
9.9
ml/min/173m2
86.0
93.5
0.82
30
282
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
5
45
1.12
0.10
1.8
1.7
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
15
137
1.13
0.08
2.1
1.5
—
—
—
0
0
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
34
350
0.92
0.05
4.2
4.2
mmol/mol
35.3
38.0
1.90
34
334
(3006504) Eosinophils/100 leukocytes in Blood
22
227
0.95
0.01
7.1
8.5
%
2.3
2.9
0.78
22
212
(3009508) Creatinine [Moles/volume] in Urine
10
106
0.93
0.01
3.6
3.3
mmol/l
6.9
7.6
—
10
94
(3019069) Monocytes/100 leukocytes in Blood
22
226
0.95
0.00
7.7
8.8
%
8.7
8.3
0.43
22
216
(3022096) Basophils/100 leukocytes in Blood
22
223
0.98
0.00
6.5
8.4
%
0.7
0.7
0.01
22
208
(3002030) Lymphocytes/100 leukocytes in Blood
23
234
0.97
0.00
6.9
8.4
%
25.0
30.9
2.13
23
223
(3018010) Neutrophils/100 leukocytes in Blood
23
228
1.02
0.00
6.8
8.2
%
61.5
54.6
2.13
23
217
(3053028) Streptococcus sp identified in Specimen by Organism specific culture
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(4268621)
0
8
0.00
0.00
0.0
2.0
—
—
—
0
0
(40765089) Chromosome analysis panel - Blood by G-banded
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3049717) Cytology report of Urine Cyto stain
0
8
0.00
0.00
0.0
2.0
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
6
60
1.00
0.00
1.0
1.2
—
—
—
0
0
(3038515) Glucose [Moles/volume] in Venous blood
0
7
0.00
0.00
0.0
2.7
—
6.2
—
0
7
(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3029715) Chromosome analysis.interphase [Interpretation] in Bone marrow by FISH Narrative
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
(40763571) Iron/Transferrin [Ratio] in Serum or Plasma
6
58
1.04
0.00
6.7
3.2
%
16.3
19.8
—
6
50
(3018133) Calcium [Moles/volume] in Urine
0
5
0.00
0.00
0.0
4.0
—
2.4
—
0
5
(3041145) Herpes simplex virus IgM Ab [Presence] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3034426) Prothrombin time (PT)
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3008757) Leukocyte morphology finding [Identifier] in Blood
0
9
0.00
0.00
0.0
4.3
—
—
—
0
0
(3000093) Morphology [Interpretation] in Blood Narrative
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
(3002823) Mycoplasma pneumoniae IgG Ab [Units/volume] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(1617658) Protocol used for examination of sentinel lymph nodes
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3013327) Hepatitis A virus IgM Ab [Presence] in Serum
0
7
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
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3035999) Lactate [Moles/volume] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.4
—
1.4
—
0
5
(40766800) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ T-cells [Units/volume] corrected for background in Blood
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3006442) Creatine [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3005702) Mycobacterium sp identified in Specimen by Organism specific culture
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3020682) Albumin/Creatinine [Ratio] in Urine
7
73
0.95
0.00
6.6
3.6
mg/mmol
12.7
4.1
—
7
49
(3035933) Granulocytes/100 leukocytes in Blood
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3037677) Mycoplasma pneumoniae IgM Ab [Titer] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(42868421) Varicella zoster virus IgM Ab [Presence] in Cerebral spinal fluid by Immunoassay
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(1761482) Bacteria [#/volume] in Urine by Culture
0
9
0.00
0.00
0.0
2.7
—
—
—
0
0
(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3018993) Complement total hemolytic CH100 [Units/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3029075) Extractable nuclear Ab panel - Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3020629) Protein S Free Ag actual/normal in Platelet poor plasma by Immunoassay
0
5
0.00
0.00
0.0
1.6
—
92.4
—
0
5
(21491868) Cryoglobulin [Mass/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.0
—
102.5
—
0
6
(3003985) Beta hydroxybutyrate [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
2.4
—
0
5
(3012413) Glucose [Moles/volume] in Serum or Plasma --2 hours post meal
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
7
74
0.94
0.00
1.0
1.4
—
—
—
0
0
(3014702) Chromogranin A [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
4.7
—
3.5
—
0
6
(3004616) Nuclear Ab [Presence] in Serum
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3027544) Mycobacterium sp identified in Sputum by Organism specific culture
0
5
0.00
0.00
0.0
3.0
—
—
—
0
0
(3008037) Lactate [Moles/volume] in Venous blood
0
7
0.00
0.00
0.0
2.7
—
0.9
—
0
7
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
2.9
—
18.5
—
0
9
(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3044212) Herpes simplex virus 1+2 IgM Ab [Presence] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(21494755) Public health laboratory ask at order entry panel
5
57
0.86
0.00
1.4
1.4
—
—
—
0
0
(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
2.6
—
394.2
—
0
5
(3015076) Soybean IgE Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3011547) Coagulation factor VII activity actual/normal in Platelet poor plasma by Coagulation assay
0
5
0.00
0.00
0.0
1.0
—
139.6
—
0
5
Mortality – FinRegistry
↥Association
Association between endpoint Q17_EPIDERMOL_BULLOSA and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_EPIDERMOL_BULLOSA.| 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: Q17_EPIDERMOL_BULLOSA – Epidermolysis bullosa
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
Loading data