Risteys · E4_SPHIGLOLIPNAS

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, E75.2+N08.4, E75.3 Hospital discharge: ICD-9 — 3300 Hospital discharge: ICD-8 — 2728[1-2] Cause of death: ICD-10 — E75.2, E75.2+N08.4, E75.3 Cause of death: ICD-9 — 3300 Cause of death: ICD-8 — 2728[1-2] 2 out of 7 registries used, show all original rules.	69
4. Check minimum number of events None	69
5. Include endpoints None	69
6. Filter based on genotype QC (FinnGen only)	69

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	476	287	184
Only index persons	327	216	111
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.01
Only index persons	0.01	0.01	0.00
Median age at first event (years)
Whole population	41.58	47.56	31.35
Only index persons	45.49	49.01	38.63

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	69	51	18
Unadjusted period prevalence (%)	0.01	0.02	0.01
Median age at first event (years)	46.03	46.61	44.37

-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

No data

-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
64: Matched controls
638

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

E75.2

ICD-10 Finland

Other sphingolipidosis

+∞

74.0

N08.4*E75.2

ICD-10 Finland

Glomerular disorders in Fabry(-Anderson) disease

+∞

19.8

Z31.5

ICD-10 Finland

Genetic counselling

29.0

17.1

N08.4

ICD-10 Finland

Glomerular disorders in other endocrine, nutritional and metabolic diseases

+∞

12.9

FM1DG

NOMESCO Finland

Very extensive MRI examination of heart with high intesity magnet

130.5

10.8

195

Kela drug reimbursment

Agalsidase alfa, agalsidase beta and migalastat

+∞

9.6

FM1AE

NOMESCO Finland

Standard cardiac ultrasound examination

6.9

9.2

151

Kela drug reimbursment

Eliglustat, imiglucerase and velaglucerase alfa

+∞

7.4

336

Kela drug reimbursment

Agalsidase alfa, agalsidase beta and migalastat

+∞

7.4

E75.3

ICD-10 Finland

Sphingolipidosis, unspecified

+∞

7.4

AA1BG

NOMESCO Finland

Standard MRI examination of brain with high intensity magnet

9.1

6.9

XF404

NOMESCO Finland

Ambulatory ECG

8.6

6.7

Z01.1

ICD-10 Finland

Examination of ears and hearing

5.6

6.6

WX892

NOMESCO Finland

Monitored bed care

9.3

6.5

6AB04

NOMESCO Finland

+∞

6.3

333

Kela drug reimbursment

Eliglustat, imiglucerase and velaglucerase alfa

+∞

6.3

A16AB04

ATC

agalsidase beta; parenteral

+∞

6.3

XF402

NOMESCO Finland

ECG with work load test

7.5

6.1

ZX120

NOMESCO Finland

Intravenous

6.3

6.1

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

unit

cases

controls

-log₁₀(p)

N cases

N controls

(3030366) Cystatin C [Mass/volume] in Serum or Plasma

41.12

39.08

4.9

3.1

mg/l

1.3

1.0

—

(3012516) Albumin [Mass/volume] in Urine

115

7.32

15.70

5.0

3.0

mg/l

1494.3

30.1

0.51

(3024561) Albumin [Mass/volume] in Serum or Plasma

189

8.11

15.00

6.4

4.4

g/l

37.4

36.1

0.96

179

(3020682) Albumin/Creatinine [Ratio] in Urine

125

6.23

13.19

5.6

3.8

mg/mmol

13.5

5.5

0.52

(3009508) Creatinine [Moles/volume] in Urine

138

5.52

11.43

5.2

2.7

mmol/l

7.8

0.01

117

(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)

7.33

10.91

3.1

1.9

ml/min/173m2

91.2

79.5

0.40

(42870588) Differential panel, method unspecified - Blood

163

4.46

8.71

7.0

5.1

—

(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma

221

4.53

8.30

4.4

2.0

nmol/l

73.1

76.4

0.50

197

(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma

161

4.27

8.24

4.0

3.2

ng/l

29.1

37.6

0.22

104

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

169

3.36

5.79

4.1

2.6

—

(3018418) pH of Serum or Plasma

131

3.28

5.35

14.3

3.2

7.4

—

(36304419) Bacteria [Presence] in Urine

138

3.08

4.82

3.7

2.6

—

(3018095) Leukocytes [#/volume] in Urine

181

2.89

4.50

4.4

3.2

e6/l

33.4

74.4

0.57

130

(3013115) Eosinophils [#/volume] in Blood

291

2.93

4.21

8.4

4.8

e9/l

0.2

0.60

266

(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma

220

2.78

4.17

14.2

7.6

mmol/l

1.2

0.03

188

(3012544) pH of Venous blood

3.94

3.82

5.3

3.1

—

(3019198) Lymphocytes [#/volume] in Blood

293

2.71

3.72

8.5

4.8

e9/l

1.8

1.9

0.28

268

(3037467) Urinalysis macro (dipstick) panel - Urine

377

2.99

3.58

4.7

3.9

—

(40760888) Immunoglobulin light chains.free panel - Serum

9.24

3.33

2.3

1.0

—

(3007778) Kappa light chains/Lambda light chains [Mass Ratio] in Serum

6.93

3.27

3.0

1.2

—

(3010156) C reactive protein [Mass/volume] in Serum or Plasma by High sensitivity method

3.86

3.18

3.9

1.6

mg/l

1.2

2.5

—

(3030905) Polymorphonuclear cells [#/volume] in Blood

6.35

3.10

3.7

2.6

e9/l

3.3

4.4

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

6.35

3.10

3.7

4.2

55.3

56.0

—

(3004588) Protein electrophoresis panel - Serum or Plasma

4.54

3.00

3.3

1.5

—

(3037756) Immunofixation for Serum or Plasma

7.17

2.93

1.7

1.4

—

(3032080) INR in Blood by Coagulation assay

164

2.33

2.83

13.3

7.3

inr

1.5

1.2

—

(3000991) Gas panel - Venous blood

3.49

2.77

6.4

7.8

—

(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

5.06

2.67

3.3

1.1

—

(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count

2.59

2.51

3.4

2.5

e6/l

1.7

2.8

0.34

(3012095) Magnesium [Moles/volume] in Serum or Plasma

2.55

2.44

6.9

4.4

mmol/l

0.8

0.18

(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count

2.42

2.31

3.2

2.3

e6/l

0.6

0.8

0.25

(3007853) Bacteria identified in Skin by Aerobe culture

2.68

2.28

1.3

1.5

—

(3000492) Spirometry study

2.58

2.13

1.5

1.4

—

(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis

5.29

2.10

3.2

1.2

g/l

0.0

—

(3025941) Bacteria identified in Stool by Culture

3.34

2.09

1.1

—

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

2.31

1.92

1.4

1.6

—

(3023368) Bacteria identified in Blood by Culture

105

2.12

1.87

6.7

4.5

—

(3044889) 12 lead EKG panel

348

1.97

1.84

5.2

3.3

—

(40758558) Short blood count panel - Blood

139

1.98

1.78

9.9

5.8

—

(3022313) Gas panel - Capillary blood

4.06

1.74

4.4

3.2

—

(3016293) Bicarbonate [Moles/volume] in Serum or Plasma

3.18

1.62

2.8

3.4

mmol/l

23.7

24.8

—

(3015736) pH of Urine

222

1.82

1.61

3.1

2.8

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.77

1.56

2.6

2.1

—

(3052851) Hemolysis interference index of Serum or Plasma

3.51

1.55

2.6

3.2

—

(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture

2.43

1.55

5.8

2.8

—

(3000494) Fungus identified in Specimen by Culture

2.19

1.36

1.6

1.8

—

(3022145) Colonoscopy Study observation

2.22

1.29

1.5

1.3

—

(40761535) Cells panel - Urine sediment

2.31

1.26

2.9

3.0

—

(40761536) Microorganisms panel - Urine sediment

2.17

1.23

4.5

3.4

—

(3042936) Bacteria identified in Isolate by Culture

2.07

1.20

1.9

3.4

—

(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection

2.12

1.18

1.5

—

(3035350) Ketones [Presence] in Urine by Test strip

276

1.64

1.17

3.6

3.1

estimate

0.0

—

(3003327) Ova and parasites identified in Stool by Light microscopy

2.61

1.17

1.4

1.6

—

(3036481) Cortisol [Moles/volume] in Serum or Plasma

2.10

1.09

2.7

2.2

nmol/l

266.9

408.5

—

(3044640) Blood type and Crossmatch panel - Blood

144

1.66

1.03

2.3

2.2

—

(3009261) Glucose [Presence] in Urine by Test strip

283

1.57

1.02

3.6

3.1

estimate

0.0

—

(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection

128

0.50

1.01

2.3

2.5

—

(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum

0.00

0.98

0.0

1.5

—

213.4

—

(3019225) pH of Specimen

1.99

0.97

6.0

4.7

—

(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection

1.84

0.97

1.6

1.4

—

(3021601) Nitrite [Presence] in Urine by Test strip

278

1.53

0.92

5.3

4.3

estimate

0.0

—

(43054903) Holo-transcobalamin II [Moles/volume] in Serum

194

1.55

0.90

1.9

1.8

pmol/l

94.7

104.4

0.50

(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection

121

0.53

0.88

2.1

2.3

—

(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection

1.96

0.84

3.7

1.6

—

(3011397) Hemoglobin [Presence] in Urine by Test strip

117

1.60

0.82

3.4

3.0

—

(4035726)

1.88

0.75

1.0

1.3

—

(3013512) EKG study

130

1.52

0.70

4.9

2.9

—

(3031040) Bacteria [#/volume] in Urine by Automated count

367

1.37

0.56

4.3

3.8

—

1405.8

—

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

110

1.46

0.54

2.2

—

(3020460) C reactive protein [Mass/volume] in Serum or Plasma

581

1.66

0.54

20.6

11.1

mg/l

23.5

19.9

0.35

426

(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)

528

1.46

0.50

19.8

9.3

ml/min/173m2

85.4

86.7

0.11

408

(40768797) Stomach Pathology biopsy report

1.40

0.43

1.3

1.2

—

(3026008) Bacteria identified in Urine by Culture

171

1.33

0.42

2.1

2.5

—

(3008401) Mugwort IgE Ab [Units/volume] in Serum

0.00

0.42

0.0

1.1

—

1.2

—

(3018405) Lactate [Moles/volume] in Arterial blood

0.00

0.42

0.0

3.6

—

1.1

—

(40768793) Breast Pathology biopsy report

0.00

0.42

0.0

1.3

—

(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma

0.00

0.42

0.0

1.7

—

739.8

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.42

0.0

1.2

—

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

0.00

0.42

0.0

1.4

—

(3003888) Timothy IgE Ab [Units/volume] in Serum

0.00

0.42

0.0

1.1

—

4.1

—

(3028707) Methadone [Presence] in Urine by Screen method

0.00

0.42

0.0

1.5

—

(3020891) Body temperature

0.00

0.42

0.0

4.9

—

(3006418) Campylobacter sp identified in Tissue by Organism specific culture

0.00

0.40

0.0

1.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.39

0.40

1.7

—

(42529406) Shigella sp [Presence] in Stool by Culture

0.00

0.39

0.0

1.2

—

(3014765) Yersinia sp identified in Stool by Organism specific culture

0.00

0.39

0.0

1.2

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

492

1.33

0.39

7.9

4.6

mmol/mol

38.9

38.4

0.13

463

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

241

1.27

0.38

3.3

4.5

—

(40761511) CBC panel - Blood by Automated count

602

1.53

0.35

19.0

10.0

—

(4010399)

1.40

0.35

2.2

1.3

—

(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep

142

0.73

0.35

1.4

1.5

—

(3007164) IgA [Mass/volume] in Serum or Plasma

138

1.31

0.35

1.4

1.2

g/l

2.4

2.3

—

(3009542) Hematocrit [Volume Fraction] of Blood

561

0.76

0.34

26.3

11.3

39.3

40.0

0.32

431

(46235355) HIV 1 and 2 tests - Meaningful Use set

152

0.75

0.34

2.9

2.1

—

(3015377) Calcium [Moles/volume] in Serum or Plasma

169

1.26

0.30

3.4

3.0

mmol/l

2.3

2.4

1.99

148

(3023410) Appearance of Cerebral spinal fluid

0.00

0.21

0.0

1.4

—

(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.2

—

(3016417) Amylase.pancreatic [Enzymatic activity/volume] in Serum or Plasma

1.27

0.21

2.2

1.7

u/l

36.5

28.4

—

(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum

0.00

0.21

0.0

1.2

—

(3029937) Albumin [Presence] in Urine by Test strip

147

1.21

0.20

4.1

3.3

estimate

0.0

—

(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma

0.00

0.20

0.0

3.3

—

19.6

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.20

0.0

1.9

—

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

226

1.17

0.19

3.9

3.0

—

(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma

1.16

0.18

4.6

6.1

—

(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection

0.71

0.18

3.2

2.1

—

(3002256) Pathology report gross observation

1.20

0.17

1.1

—

(3041096) Erythrocytes [Presence] in Urine by Automated

169

1.17

0.17

3.6

2.8

—

(3019284) Hepatitis B virus surface Ag [Presence] in Serum

118

0.82

0.15

2.9

1.7

—

(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture

146

0.86

0.12

1.7

—

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

144

0.88

0.09

1.8

1.5

mmol/l

1.0

1.3

1.13

118

(43054914) Glucose tolerance 2 hours panel - Serum or Plasma

1.12

0.09

1.5

2.0

—

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

414

0.92

0.07

3.4

3.6

—

(40760892) CBC W Ordered Manual Differential panel - Blood

139

1.10

0.06

6.2

3.9

—

(1761868) Lipid panel - Serum or Plasma

192

1.06

0.02

3.4

2.4

—

(3003694) ABO and Rh group [Type] in Blood

151

0.99

0.00

1.3

1.6

—

(40768804) Tissue Pathology biopsy report

226

1.03

0.00

1.7

1.8

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.0

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

2.9

—

22.9

—

(3013327) Hepatitis A virus IgM Ab [Presence] in Serum

0.00

0.0

1.0

—

(4268621)

0.00

0.0

1.6

—

(3001788) Aldosterone [Moles/volume] in Serum or Plasma

0.00

0.0

1.0

—

369.0

—

(3034603) RHD gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal

0.00

0.0

1.5

—

(3021879) Hepatitis B virus core Ab [Presence] in Serum

0.85

0.00

1.2

1.3

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.0

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.4

—

(3026515) Parvovirus B19 IgM Ab [Units/volume] in Serum

0.00

0.0

1.2

—

(3011985) Renin [Units/volume] in Plasma

0.00

0.0

1.0

—

21.2

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.0

1.0

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.0

1.0

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.0

—

(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma

0.00

0.0

1.4

—

99.6

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

1.2

—

90.8

—

(4281824)

0.00

0.0

1.2

—

(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method

0.00

0.0

1.3

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.0

1.2

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

0.0

1.4

—

(3019832) Treponema pallidum Ab [Presence] in Serum

100

1.00

0.00

1.2

1.7

—

(3025547) Thyroglobulin Ab [Units/volume] in Serum or Plasma

0.00

0.0

1.8

—

(21494670) JAK2 gene exon 14 targeted mutation analysis in Blood or Tissue by Molecular genetics method

0.00

0.0

1.0

—

(3049539) Genetic diseases [Identifier] in Blood or Tissue by FISH Nominal

0.00

0.0

1.2

—

(3028271) Lactate [Moles/volume] in Capillary blood

0.00

0.0

1.3

—

1.6

—

(3043453) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum

0.00

0.0

1.0

—

(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma

1.01

0.00

3.6

4.6

ug/l

1.2

2.2

—

(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence

0.00

0.0

1.6

—

(3027529) Toxoplasma gondii IgM Ab [Units/volume] in Serum

0.00

0.0

1.6

—

(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]

0.00

0.0

1.3

—

(3014959) Toxoplasma gondii IgG Ab [Units/volume] in Serum

0.00

0.0

3.2

—

(3009550) Parvovirus B19 IgG Ab [Titer] in Serum

0.00

0.0

1.2

—

(3035320) C reactive protein [Mass/volume] in Body fluid

0.00

0.0

1.2

—

(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method

0.00

0.0

1.8

—

(3017143) Hepatitis C virus Ab [Presence] in Serum

0.95

0.00

3.0

1.5

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.0

1.2

—

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

0.00

-0.00

0.0

1.4

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_SPHIGLOLIPNAS and mortality.

Females

Parameter	HR [95% CI]	p-value
E4_SPHIGLOLIPNAS	5.459 [3.63, 8.21]	< 0.001
Birth year	1.0 [0.99, 1.01]	0.986

During the follow-up period (1.1.1998 — 31.12.2019), 71 out of 223 females with E4_SPHIGLOLIPNAS died.

Males

Parameter	HR [95% CI]	p-value
E4_SPHIGLOLIPNAS	4.047 [1.83, 8.95]	< 0.001
Birth year	0.987 [0.98, 1.0]	0.006

During the follow-up period (1.1.1998 — 31.12.2019), 52 out of 131 males with E4_SPHIGLOLIPNAS died.

Mortality risk

Mortality risk for people of age

years, who have E4_SPHIGLOLIPNAS.

N-year risk	Females	Males
1	0.438%	0.962%
5	3.329%	5.057%
10	8.296%	11.363%
15	14.825%	20.407%
20	27.15%	32.458%

Relationships between endpoints

↥

Index endpoint: E4_SPHIGLOLIPNAS – Sphingolipidosis, other/unspecified

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

NAME	E4_SPHIGLOLIPNAS
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E75[2-3]
HD_ICD_9	3300
HD_ICD_8	2728[1-2]
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E75[2-3]
COD_ICD_9	3300
COD_ICD_8	2728[1-2]
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Sphingolipidosis, other/unspecified

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

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

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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

CodeWAS (R11)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints