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APECED

E4_APECED

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 E31.00
  • Cause of death: ICD-10 E31.00

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

26

4. Check minimum number of events

None

26

5. Include endpoints

None

26

6. Filter based on genotype QC (FinnGen only)

26

Control definitions (FinnGen only)

Control exclude
E4_ENDOGLAND

Extra metadata

First used in FinnGen datafreeze
DF12

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

All Female Male
Number of individuals 26 15 11
Unadjusted period prevalence (%) 0.01 0.01 0.00
Median age at first event (years) 24.36 30.64 15.79

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

CodeWAS (R11)

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

No data available

LabWAS

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
unit
cases
controls
-log10(p)
N cases
N controls
(3023368) Bacteria identified in Blood by Culture
19
31
19.68
10.38
7.8
3.7
—
—
—
0
0
(3014576) Chloride [Moles/volume] in Serum or Plasma
12
14
15.06
10.20
10.2
3.6
mmol/l
102.1
104.9
0.87
12
14
(3024354) Oxygen [Partial pressure] in Venous blood
12
7
30.01
9.16
8.1
3.9
kpa
4.7
4.8
—
12
7
(3010838) Calcium [Moles/time] in 24 hour Urine
8
0
+∞
8.81
2.4
0.0
—
—
—
0
0
(3021447) Carbon dioxide [Partial pressure] in Venous blood
12
9
23.25
8.43
8.8
8.8
kpa
5.7
6.0
—
12
9
(3000991) Gas panel - Venous blood
11
8
22.46
7.75
11.1
2.8
—
—
—
0
0
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
21
66
12.22
7.44
59.7
4.3
mmol/l
1.1
1.2
3.96
21
60
(3012544) pH of Venous blood
11
9
19.92
7.42
6.9
8.8
—
—
—
0
0
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
20
58
11.48
7.40
4.8
1.6
pmol/l
91.0
94.2
0.17
14
30
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
10
15
10.21
6.85
3.4
2.1
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
10
15
10.21
6.85
3.3
1.9
—
—
—
0
0
(3030467) Casts [#/volume] in Urine by Automated count
15
37
8.22
6.73
8.5
2.2
e6/l
0.0
0.5
0.67
15
24
(3012565) Volume of 24 hour Urine
6
0
+∞
6.50
3.0
0.0
ml
3293.3
—
—
6
0
(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma
26
140
+∞
6.49
15.0
6.5
u/l
75.9
71.5
0.32
26
133
(3000494) Fungus identified in Specimen by Culture
11
20
8.80
6.43
2.5
1.5
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
18
53
8.70
6.21
8.5
2.4
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
12
25
8.06
6.21
1.4
1.2
—
—
—
0
0
(3032080) INR in Blood by Coagulation assay
18
55
8.30
6.00
5.9
6.5
inr
1.0
1.2
—
9
16
(3020779) Urea [Moles/volume] in Serum or Plasma
9
8
16.29
5.81
17.3
14.0
mmol/l
8.1
4.9
—
9
8
(3002582) Erythrocytes [#/volume] in Urine
15
43
6.88
5.63
8.7
2.3
e6/l
6.1
13.6
1.00
15
32
(37021550) Renin [Units/volume] in Plasma --upright
5
0
+∞
5.37
3.0
0.0
mu/l
336.2
—
—
5
0
(36304419) Bacteria [Presence] in Urine
14
39
6.61
5.37
9.0
2.3
—
—
—
0
0
(3018095) Leukocytes [#/volume] in Urine
16
54
6.10
4.91
8.6
3.1
e6/l
6.7
5.3
0.13
16
36
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
10
22
6.76
4.77
4.3
2.0
—
—
—
0
0
(3016502) Oxygen saturation in Arterial blood
8
9
12.16
4.66
13.5
4.8
%
94.9
93.2
—
8
9
(3018010) Neutrophils/100 leukocytes in Blood
21
101
6.57
4.35
9.5
5.3
%
59.5
55.4
0.72
21
96
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
7
7
13.05
4.29
20.4
1.9
mmol/l
26.6
25.2
—
7
7
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
7
7
13.05
4.29
1.7
1.9
—
—
—
0
0
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
16
61
5.22
4.09
1.9
1.5
u/ml
0.6
0.9
—
7
14
(3002173) Hemoglobin [Mass/volume] in Arterial blood
7
8
11.39
4.05
15.3
5.1
g/l
116.4
135.4
—
7
8
(3006217) Methemoglobin/Hemoglobin.total in Arterial blood
6
5
14.96
3.97
11.7
1.8
%
0.5
1.0
—
6
5
(3004119) Hemoglobin [Mass/volume] in Venous blood
6
5
14.96
3.97
8.2
12.8
g/l
126.5
132.6
—
6
5
(3014007) Fractional oxyhemoglobin in Arterial blood
6
6
12.45
3.70
11.7
1.8
%
92.8
88.1
—
6
6
(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood
6
6
12.45
3.70
6.8
3.7
%
1.8
1.5
—
6
6
(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood
6
6
12.45
3.70
11.7
1.8
%
1.5
3.1
—
6
6
(3006504) Eosinophils/100 leukocytes in Blood
20
99
5.39
3.64
13.5
5.3
%
1.9
3.0
1.72
20
93
(3019069) Monocytes/100 leukocytes in Blood
20
100
5.30
3.62
13.7
6.1
%
9.3
8.2
0.86
20
95
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
26
183
+∞
3.54
15.0
3.6
mmol/mol
45.9
38.7
1.44
26
174
(40760892) CBC W Ordered Manual Differential panel - Blood
15
60
4.55
3.48
13.7
2.8
—
—
—
0
0
(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum
7
11
8.22
3.44
1.1
1.1
—
—
—
0
0
(40758558) Short blood count panel - Blood
12
41
4.58
3.39
4.5
4.3
—
—
—
0
0
(3022096) Basophils/100 leukocytes in Blood
19
96
4.61
3.26
14.2
5.6
%
0.7
0.7
0.08
19
90
(3014111) Lactate [Moles/volume] in Serum or Plasma
6
8
9.30
3.24
9.7
3.0
mmol/l
1.1
1.2
—
6
8
(3019060) Gas panel - Arterial blood
6
8
9.30
3.24
14.5
5.0
—
—
—
0
0
(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection
5
5
11.91
3.11
4.4
1.4
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
7
14
6.40
2.96
13.0
2.7
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
7
14
6.40
2.96
4.0
1.9
—
—
—
0
0
(3018677) aPTT in Platelet poor plasma by Coagulation assay
9
25
4.93
2.92
2.9
2.6
s
27.9
29.7
—
9
25
(42870588) Differential panel, method unspecified - Blood
15
67
3.93
2.87
13.2
5.4
—
—
—
0
0
(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction
6
12
6.13
2.56
1.5
1.8
u/l
202.2
235.1
—
6
12
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
6
12
6.13
2.56
5.7
2.1
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
18
100
3.58
2.50
9.3
3.8
estimate
0.0
0.0
—
8
15
(3031040) Bacteria [#/volume] in Urine by Automated count
20
118
3.99
2.49
7.6
3.4
—
—
—
0
0
(3023103) Potassium [Moles/volume] in Serum or Plasma
26
204
+∞
2.43
59.7
9.1
mmol/l
3.9
3.9
0.25
26
199
(3025941) Bacteria identified in Stool by Culture
6
13
5.64
2.42
1.8
1.2
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
18
102
3.47
2.24
7.9
2.5
estimate
0.0
0.0
—
8
15
(3035350) Ketones [Presence] in Urine by Test strip
18
102
3.47
2.24
7.9
2.5
estimate
0.0
0.0
—
8
16
(3020961) Endomysium IgA Ab [Titer] in Serum
5
10
5.89
2.17
1.0
1.3
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
15
86
2.76
1.66
8.7
2.4
—
—
—
0
0
(3022145) Colonoscopy Study observation
6
21
3.39
1.61
1.2
1.2
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
9
43
2.66
1.50
7.0
1.9
—
—
—
0
0
(3015736) pH of Urine
14
81
2.58
1.47
5.7
2.3
—
—
—
0
0
(3044889) 12 lead EKG panel
19
131
2.66
1.42
4.9
2.7
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
8
37
2.67
1.36
5.3
2.9
—
—
—
0
0
(3033658) Prothrombin time (PT) actual/Normal
9
45
2.52
1.22
9.7
3.0
%
86.1
97.6
—
9
45
(3044640) Blood type and Crossmatch panel - Blood
10
54
2.38
1.16
2.7
2.0
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
0
28
0.00
1.05
0.0
2.1
—
—
—
0
0
(3020564) Creatinine [Moles/volume] in Serum or Plasma
26
229
+∞
1.04
58.0
9.2
umol/l
90.6
73.2
1.46
26
229
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
0
32
0.00
1.03
0.0
1.5
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
13
83
2.13
1.00
4.0
4.0
—
—
—
0
0
(3013512) EKG study
8
43
2.24
0.99
4.5
2.6
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
11
69
2.03
0.86
9.2
2.1
—
—
—
0
0
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
0
24
0.00
0.84
0.0
1.7
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
26
234
+∞
0.83
31.0
9.9
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
18
138
1.98
0.83
8.0
3.7
—
—
—
0
0
(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma
5
27
2.05
0.73
5.2
2.3
ng/l
226.0
694.6
—
5
21
(3042936) Bacteria identified in Isolate by Culture
5
29
1.89
0.67
1.6
1.9
—
—
—
0
0
(3026493) Urate [Moles/volume] in Serum or Plasma
6
34
1.99
0.64
2.7
1.6
umol/l
276.5
13034.0
—
6
28
(3001019) Free T4 and TSH panel - Serum or Plasma
0
19
0.00
0.63
0.0
1.6
—
—
—
0
0
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
0
22
0.00
0.62
0.0
1.5
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
7
48
1.62
0.52
1.7
1.6
—
—
—
0
0
(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay
0
15
0.00
0.43
0.0
1.3
—
—
—
0
0
(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma
0
15
0.00
0.43
0.0
1.3
—
—
—
0
0
(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma
0
15
0.00
0.43
0.0
1.3
—
—
—
0
0
(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight
0
15
0.00
0.43
0.0
1.3
—
—
—
0
0
(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age
0
15
0.00
0.43
0.0
1.3
—
—
—
0
0
(3043238) Trisomy 21 risk [Likelihood] in Fetus
0
16
0.00
0.42
0.0
1.4
—
—
—
0
0
(1002224) Polysomnography panel
0
17
0.00
0.42
0.0
1.2
—
—
—
0
0
(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma
0
17
0.00
0.42
0.0
1.6
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
6
42
1.55
0.39
3.3
1.7
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
5
73
0.61
0.31
1.2
1.8
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
21
223
0.70
0.25
27.4
10.7
%
39.3
42.0
1.71
15
192
(3050129) First trimester maternal screen panel - Serum or Plasma
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
(3024891) Influenza virus A+B Ag [Presence] in Specimen
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
(3002523) Influenza virus A Ag [Presence] in Specimen
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
(3003740) Influenza virus B Ag [Presence] in Specimen
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
(3047352) Trisomy 18 risk [Likelihood] in Fetus
0
14
0.00
0.20
0.0
1.3
—
—
—
0
0
(3005033) Fetal Nuchal fold Thickness US
0
14
0.00
0.20
0.0
1.3
—
—
—
0
0
(3018171) Choriogonadotropin [Units/volume] in Serum or Plasma
0
14
0.00
0.20
0.0
2.5
—
149.0
—
0
6
(1761868) Lipid panel - Serum or Plasma
10
99
1.02
0.00
5.7
2.4
—
—
—
0
0
(3038177) Helicobacter pylori Ab [Presence] in Serum
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3047826) Mullerian inhibiting substance [Mass/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.0
—
3.8
—
0
6
(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
8
79
1.02
0.00
2.1
1.7
—
—
—
0
0
(3000081) cloZAPine [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
15.2
—
1181.5
—
0
6
(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3023511) Choriogonadotropin [Units/volume] in Urine
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting
21
209
1.02
0.00
7.9
3.2
mmol/l
1.1
1.2
0.61
21
192
(3008832) Norclozapine [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
11.8
—
659.8
—
0
6
(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.4
—
0.9
—
0
5
(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
19
191
0.98
0.00
4.3
3.7
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
6
57
1.07
0.00
1.3
1.7
—
—
—
0
0
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3037551) Cancer Ag 125 [Units/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
2.6
—
68.7
—
0
7
(3042975) Streptococcus sp identified in Isolate by Organism specific culture
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(4034850)
0
5
0.00
0.00
0.0
3.6
—
—
—
0
0
(3003888) Timothy IgE Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
8.4
—
0
5
(40768793) Breast Pathology biopsy report
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(40768443) Skin Pathology biopsy report
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(4094501)
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain
0
8
0.00
-0.00
0.0
1.5
—
—
—
0
0

Mortality – FinRegistry

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

Index endpoint: E4_APECED – APECED

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).