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Kidney diseases associated to Fabry's disease

Endpoint Browser PheWeb

E4_FABRY_KIDNEY

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 — E75.2
  • Cause of death: ICD-10 — E75.2

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

64

4. Check minimum number of events

None

64

5. Include endpoints

None

64

6. Filter based on genotype QC (FinnGen only)

64

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

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 64 50 14
Unadjusted period prevalence (%) 0.01 0.02 0.01
Median age at first event (years) 47.32 47.68 46.00

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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
(3030366) Cystatin C [Mass/volume] in Serum or Plasma
26
8
53.16
22.38
4.9
2.9
mg/l
1.3
1.0
—
26
8
(3012516) Albumin [Mass/volume] in Urine
39
108
7.68
15.29
5.1
3.1
mg/l
1516.5
31.1
0.50
33
76
(3024561) Albumin [Mass/volume] in Serum or Plasma
48
174
8.03
13.89
5.9
4.4
g/l
37.6
36.0
1.31
48
164
(3020682) Albumin/Creatinine [Ratio] in Urine
38
118
6.47
12.74
5.7
3.9
mg/mmol
9.3
5.7
0.22
31
77
(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)
19
32
8.02
11.63
3.1
1.9
ml/min/173m2
91.2
79.5
0.40
11
13
(3009508) Creatinine [Moles/volume] in Urine
38
131
5.68
10.96
5.3
2.7
mmol/l
7.9
7.5
0.18
33
113
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
37
147
4.60
8.44
4.0
3.2
ng/l
30.6
25.7
0.20
25
91
(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma
44
201
4.80
8.29
4.5
2.1
nmol/l
73.1
76.5
0.51
44
180
(42870588) Differential panel, method unspecified - Blood
37
150
4.48
8.15
7.1
5.1
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
34
160
3.40
5.49
4.2
2.7
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
28
129
3.08
4.51
3.8
2.6
—
—
—
0
0
(3018095) Leukocytes [#/volume] in Urine
33
169
2.97
4.38
4.6
3.2
e6/l
12.3
79.1
1.37
27
121
(3010156) C reactive protein [Mass/volume] in Serum or Plasma by High sensitivity method
10
26
4.37
3.68
3.9
1.7
mg/l
1.2
2.7
—
10
17
(3037467) Urinalysis macro (dipstick) panel - Urine
51
353
3.19
3.58
4.9
4.0
—
—
—
0
0
(3032035) Polymorphonuclear cells/100 leukocytes in Blood
7
10
7.69
3.46
3.7
4.0
%
55.3
57.8
—
7
10
(3030905) Polymorphonuclear cells [#/volume] in Blood
7
10
7.69
3.46
3.7
2.3
e9/l
3.3
4.6
—
7
10
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
35
203
2.60
3.44
12.5
7.5
mmol/l
1.2
1.2
0.12
29
174
(3004588) Protein electrophoresis panel - Serum or Plasma
9
19
5.33
3.38
3.3
1.5
—
—
—
0
0
(3012544) pH of Venous blood
11
34
3.70
3.23
3.4
3.1
—
—
—
0
0
(40760888) Immunoglobulin light chains.free panel - Serum
5
5
10.68
3.03
2.6
1.0
—
—
—
0
0
(3007778) Kappa light chains/Lambda light chains [Mass Ratio] in Serum
6
9
7.21
2.93
3.3
1.2
—
—
—
0
0
(3000492) Spirometry study
13
49
3.07
2.82
1.5
1.4
—
—
—
0
0
(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
7
15
5.10
2.68
3.3
1.1
—
—
—
0
0
(3037756) Immunofixation for Serum or Plasma
5
8
6.66
2.41
1.8
1.5
—
—
—
0
0
(3000991) Gas panel - Venous blood
9
30
3.32
2.25
4.0
8.2
—
—
—
0
0
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
15
70
2.49
2.19
3.5
2.5
e6/l
1.8
2.8
—
10
39
(3032080) INR in Blood by Coagulation assay
25
148
2.13
2.12
14.8
6.6
inr
1.6
1.1
—
5
47
(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis
5
10
5.32
2.11
3.2
1.2
g/l
0.0
0.0
—
5
10
(3012095) Magnesium [Moles/volume] in Serum or Plasma
14
66
2.44
2.00
7.1
4.2
mmol/l
0.8
0.8
0.08
14
61
(3022313) Gas panel - Capillary blood
5
11
4.83
1.98
4.4
1.0
—
—
—
0
0
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
16
81
2.30
1.96
3.3
2.3
e6/l
0.7
0.8
0.15
11
50
(3015736) pH of Urine
31
207
1.97
1.85
3.2
2.9
—
—
—
0
0
(40758558) Short blood count panel - Blood
22
131
2.04
1.80
10.1
5.6
—
—
—
0
0
(3025941) Bacteria identified in Stool by Culture
7
24
3.14
1.78
1.1
1.1
—
—
—
0
0
(3016251) Hemoglobin.gastrointestinal [Presence] in Stool
7
27
2.78
1.56
2.6
2.1
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
17
97
2.02
1.54
6.5
4.3
—
—
—
0
0
(40761535) Cells panel - Urine sediment
8
35
2.47
1.32
2.9
3.0
—
—
—
0
0
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
26
180
1.75
1.29
1.9
1.7
pmol/l
94.7
101.3
0.32
14
93
(3035350) Ketones [Presence] in Urine by Test strip
34
258
1.68
1.19
3.7
3.1
estimate
0.0
0.0
—
7
49
(3000494) Fungus identified in Specimen by Culture
10
51
2.14
1.18
1.6
1.9
—
—
—
0
0
(3003327) Ova and parasites identified in Stool by Light microscopy
5
20
2.62
1.17
1.4
1.6
—
—
—
0
0
(3036481) Cortisol [Moles/volume] in Serum or Plasma
8
40
2.14
1.17
2.9
2.3
nmol/l
268.0
364.3
—
8
35
(3021601) Nitrite [Presence] in Urine by Test strip
34
260
1.66
1.14
5.5
4.3
estimate
0.0
0.0
—
7
48
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
8
41
2.08
1.13
4.4
2.8
—
—
—
0
0
(3044889) 12 lead EKG panel
41
330
1.67
1.12
5.3
3.3
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
12
68
1.94
1.09
1.3
1.5
—
—
—
0
0
(3019225) pH of Specimen
7
33
2.26
1.09
6.0
3.6
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
9
47
2.06
1.08
4.9
3.4
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
9
48
2.02
1.06
1.4
1.4
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
34
264
1.61
1.05
3.8
3.1
estimate
0.0
0.0
—
6
46
(3011397) Hemoglobin [Presence] in Urine by Test strip
17
110
1.74
1.04
3.4
3.0
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
19
128
1.69
1.01
1.9
2.2
—
—
—
0
0
(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum
0
31
0.00
0.99
0.0
1.5
—
213.4
—
0
17
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
7
125
0.51
0.89
2.3
2.5
—
—
—
0
0
(3022145) Colonoscopy Study observation
8
47
1.80
0.84
1.0
1.3
—
—
—
0
0
(3019060) Gas panel - Arterial blood
0
25
0.00
0.81
0.0
23.1
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
7
118
0.54
0.77
2.1
2.3
—
—
—
0
0
(3013512) EKG study
17
119
1.58
0.77
5.1
2.7
—
—
—
0
0
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
5
28
1.85
0.67
4.0
1.4
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
8
49
1.72
0.65
1.5
1.5
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
8
50
1.68
0.64
1.5
1.5
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
14
98
1.55
0.63
1.6
2.1
—
—
—
0
0
(4035726)
6
34
1.84
0.60
1.0
1.2
—
—
—
0
0
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
9
62
1.52
0.56
1.7
1.7
—
—
—
0
0
(3007164) IgA [Mass/volume] in Serum or Plasma
17
130
1.42
0.51
1.4
1.2
g/l
2.4
2.3
—
7
72
(3042936) Bacteria identified in Isolate by Culture
8
55
1.52
0.45
2.1
3.5
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
11
148
0.69
0.45
2.5
2.1
—
—
—
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)
53
492
1.45
0.45
19.4
9.1
ml/min/173m2
86.4
86.7
0.02
47
378
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
57
539
1.53
0.44
19.6
11.0
mg/l
22.0
20.2
0.14
42
393
(3031040) Bacteria [#/volume] in Urine by Automated count
39
347
1.32
0.43
4.5
3.9
—
1405.8
—
0
6
(3020891) Body temperature
0
15
0.00
0.42
0.0
4.9
—
—
—
0
0
(40768793) Breast Pathology biopsy report
0
15
0.00
0.42
0.0
1.3
—
—
—
0
0
(3003888) Timothy IgE Ab [Units/volume] in Serum
0
15
0.00
0.42
0.0
1.1
—
4.1
—
0
7
(3028707) Methadone [Presence] in Urine by Screen method
0
15
0.00
0.42
0.0
1.5
—
—
—
0
0
(3008401) Mugwort IgE Ab [Units/volume] in Serum
0
15
0.00
0.42
0.0
1.1
—
1.2
—
0
7
(44816559) Phosphatidylethanol [Mass/volume] in Blood
0
15
0.00
0.42
0.0
1.2
—
—
—
0
0
(3018405) Lactate [Moles/volume] in Arterial blood
0
15
0.00
0.42
0.0
3.6
—
1.1
—
0
15
(3006418) Campylobacter sp identified in Tissue by Organism specific culture
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
(3014765) Yersinia sp identified in Stool by Organism specific culture
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
(42529406) Shigella sp [Presence] in Stool by Culture
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
(3015377) Calcium [Moles/volume] in Serum or Plasma
19
155
1.32
0.38
3.5
3.0
mmol/l
2.2
2.4
2.44
14
137
(4010399)
6
42
1.47
0.37
2.2
1.3
—
—
—
0
0
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
49
456
1.32
0.35
7.5
4.7
mmol/mol
37.8
38.6
0.28
49
428
(3009542) Hematocrit [Volume Fraction] of Blood
49
520
0.75
0.34
21.9
11.4
%
39.4
39.9
0.18
42
399
(3025839) Triglyceride [Moles/volume] in Serum or Plasma
11
141
0.73
0.34
1.9
1.5
mmol/l
0.9
1.3
2.13
11
115
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
11
140
0.74
0.32
1.4
1.5
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
58
560
1.38
0.26
17.5
9.8
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
9
112
0.77
0.22
2.3
1.7
—
—
—
0
0
(3023410) Appearance of Cerebral spinal fluid
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
(3025130) Human papilloma virus identified in Specimen
0
13
0.00
0.21
0.0
1.9
—
—
—
0
0
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
13
0.00
0.21
0.0
1.5
—
—
—
0
0
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
13
0.00
0.21
0.0
3.5
—
19.8
—
0
13
(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma
0
14
0.00
0.20
0.0
1.7
—
789.1
—
0
14
(3003694) ABO and Rh group [Type] in Blood
12
142
0.81
0.20
1.3
1.6
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
6
52
1.17
0.19
1.5
2.0
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
7
57
1.26
0.19
1.0
1.2
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
7
57
1.26
0.19
4.6
6.4
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
36
384
0.86
0.19
3.5
3.7
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
19
168
1.19
0.18
2.3
2.6
—
—
—
0
0
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
5
66
0.74
0.18
3.2
2.1
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
23
212
1.13
0.12
4.2
3.1
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
24
224
1.11
0.10
3.0
4.6
—
—
—
0
0
(3016417) Amylase.pancreatic [Enzymatic activity/volume] in Serum or Plasma
5
44
1.15
0.10
2.4
1.7
u/l
39.6
28.8
—
5
37
(3029937) Albumin [Presence] in Urine by Test strip
15
139
1.10
0.06
4.5
3.4
estimate
0.0
0.0
—
6
49
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
13
141
0.90
0.06
1.7
1.6
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
17
159
1.09
0.06
3.9
2.9
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
14
130
1.10
0.05
6.4
4.0
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
21
216
0.96
0.00
1.4
1.8
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
18
177
1.02
0.00
3.7
2.5
—
—
—
0
0
(3019832) Treponema pallidum Ab [Presence] in Serum
10
99
1.01
0.00
1.2
1.7
—
—
—
0
0
(3002256) Pathology report gross observation
6
62
0.96
0.00
1.2
1.1
—
—
—
0
0
(3039162) Centromere protein B Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3028271) Lactate [Moles/volume] in Capillary blood
0
6
0.00
0.00
0.0
1.3
—
1.6
—
0
6
(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay
0
8
0.00
0.00
0.0
2.9
—
22.9
—
0
8
(1617658) Protocol used for examination of sentinel lymph nodes
0
5
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
(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(21494670) JAK2 gene exon 14 targeted mutation analysis in Blood or Tissue by Molecular genetics method
0
5
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
(3043109) Cytology report of Tissue fine needle aspirate Cyto stain
0
7
0.00
0.00
0.0
1.1
—
—
—
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
(3032773) Endomysium IgG Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3011985) Renin [Units/volume] in Plasma
0
6
0.00
0.00
0.0
1.0
—
22.1
—
0
6
(3043453) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(4268621)
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma
7
69
1.02
0.00
4.1
5.0
ug/l
1.1
2.5
—
7
58
(4281824)
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3022806) Fractional oxyhemoglobin in Capillary blood
0
6
0.00
0.00
0.0
1.2
—
90.8
—
0
6
(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3035320) C reactive protein [Mass/volume] in Body fluid
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3009550) Parvovirus B19 IgG Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(4034850)
0
9
0.00
0.00
0.0
8.1
—
—
—
0
0
(3001788) Aldosterone [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.0
—
411.2
—
0
6
(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
(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3038177) Helicobacter pylori Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3026515) Parvovirus B19 IgM Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3017143) Hepatitis C virus Ab [Presence] in Serum
7
78
0.88
0.00
2.3
1.5
—
—
—
0
0

Mortality – FinRegistry

↥

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

Relationships between endpoints

↥

Index endpoint: E4_FABRY_KIDNEY – Kidney diseases associated to Fabry's disease

GWS hits: -

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