Sphingolipidosis, other/unspecified

E4_SPHIGLOLIPNAS

No definition available.

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	519972
1. Apply sex-specific rule None	519972
2. Check conditions None	519972
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.	71
4. Check minimum number of events None	71
5. Include endpoints None	71
6. Filter based on genotype QC (FinnGen only)	66

Control definitions (FinnGen only)

Control exclude: E4_METABOLIA

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2

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

Similar endpoints

↥

List of similar endpoints to Sphingolipidosis, other/unspecified based on the number of shared cases.

Similar with more cases:

Similar with less cases:

Kidney diseases associated to Fabry's disease

Case counts by codes

↥

FinnGen case counts by registry codes:

Upset plot

Full data table

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	66	48	18
Unadjusted period prevalence (%)	0.01	0.02	0.01
Median age at first event (years)	48.45	49.98	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

↥

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
71: Matched controls
710

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

E75.2

ICD-10 Finland

Other sphingolipidosis

+∞

81.9

N08.4*E75.2

ICD-10 Finland

Glomerular disorders in Fabry(-Anderson) disease

+∞

23.2

Z31.5

ICD-10 Finland

Genetic counselling

19.0

17.3

FM1AE

NOMESCO Finland

Standard cardiac ultrasound examination

7.9

15.4

195

Kela drug reimbursment

Agalsidase alfa, agalsidase beta and migalastat

+∞

12.9

FM1DG

NOMESCO Finland

Very extensive MRI examination of heart with high intesity magnet

78.2

12.0

336

Kela drug reimbursment

Agalsidase alfa, agalsidase beta and migalastat

+∞

11.8

Z01.1

ICD-10 Finland

Examination of ears and hearing

6.8

11.7

ZX120

NOMESCO Finland

Intravenous

6.0

8.7

AA1BG

NOMESCO Finland

Standard MRI examination of brain with high intensity magnet

8.0

8.7

E75.3

ICD-10 Finland

Sphingolipidosis, unspecified

+∞

8.5

XF402

NOMESCO Finland

ECG with work load test

9.3

8.3

FM1EE

NOMESCO Finland

Extensive structural and functional ultrasound examination of heart

4.5

7.9

A16AB04

ATC

agalsidase beta; parenteral

+∞

7.4

151

Kela drug reimbursment

Eliglustat, imiglucerase and velaglucerase alfa

+∞

7.4

FM1CG

NOMESCO Finland

Extensive examination of hear with high intensity magnet

+∞

7.4

6AB04, ,

NOMESCO Finland

+∞

7.4

333

Kela drug reimbursment

Eliglustat, imiglucerase and velaglucerase alfa

+∞

7.4

TPH04

NOMESCO Finland

Cathetrisation of vein

4.4

7.2

Z01.8

ICD-10 Finland

Other specified special examinations

4.2

7.0

XF404

NOMESCO Finland

Ambulatory ECG

7.6

7.0

123

Kela drug reimbursment

Chronic disorders of vitamin D metabolism

76.4

6.5

WX892

NOMESCO Finland

Monitored bed care

9.1

6.5

N18.9

ICD-10 Finland

Chronic kidney disease, unspecified

29.6

6.4

I42.2

ICD-10 Finland

Other hypertrophic cardiomyopathy

+∞

6.3

FP4B5

NOMESCO Finland

ECG, prolonged recording (24 h)

+∞

6.3

GD1AA

NOMESCO Finland

Thorax X-ray examination

3.4

6.2

178

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

40.82

22.68

4.7

3.0

1.36

1.04

mg/l

0.73

(3012516) Albumin [Mass/volume] in Urine

121

7.48

16.47

4.9

3.0

1455.68

29.42

mg/l

0.51

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

192

8.57

16.14

7.0

4.3

37.32

36.23

g/l

0.77

182

(3020682) Albumin/Creatinine [Ratio] in Urine

130

6.46

14.10

5.4

3.6

13.96

5.40

mg/mmol

0.59

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

7.64

12.31

4.3

1.8

82.85

79.20

ml/min/173m2

0.11

(3009508) Creatinine [Moles/volume] in Urine

144

5.69

12.18

5.0

2.8

7.77

7.81

mmol/l

0.02

123

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

228

4.71

8.88

4.3

2.0

74.31

76.58

nmol/l

0.30

204

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

170

4.10

8.00

4.0

3.0

29.34

37.51

ng/l

0.22

106

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

171

3.63

6.70

3.9

2.7

—

(36304419) Bacteria [Presence] in Urine

140

3.34

5.72

3.5

2.6

—

(3018418) pH of Serum or Plasma

134

3.33

5.64

15.4

3.1

7.39

7.40

—

(3018095) Leukocytes [#/volume] in Urine

182

3.16

5.37

4.4

3.2

31.35

83.72

e6/l

0.80

132

(3007628) Bicarbonate [Moles/volume] standard in Venous blood

7.44

5.00

6.9

2.7

23.23

25.28

mmol/l

1.29

(40760892) CBC W Ordered Manual Differential panel - Blood

261

2.98

4.68

8.3

5.5

—

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

223

2.82

4.40

15.7

7.5

1.22

mmol/l

0.04

193

(3013115) Eosinophils [#/volume] in Blood

297

2.90

4.28

8.3

4.9

0.17

0.18

e9/l

0.24

273

(40760888) Immunoglobulin light chains.free panel - Serum

10.91

4.10

7.0

1.0

—

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

8.03

3.97

7.0

1.2

—

(3004588) Protein electrophoresis panel - Serum or Plasma

5.36

3.71

6.4

1.5

—

(3037467) Urinalysis macro (dipstick) panel - Urine

383

2.93

3.64

4.8

3.8

—

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

5.86

3.29

7.1

1.1

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

6.33

3.10

3.7

4.2

55.29

56.00

—

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

6.33

3.10

3.7

2.6

3.26

4.41

e9/l

—

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

2.79

3.01

6.8

4.4

0.84

0.82

mmol/l

0.18

(3037756) Immunofixation for Serum or Plasma

7.15

2.93

1.7

1.4

—

(3000991) Gas panel - Venous blood

3.64

2.88

7.3

7.5

—

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

3.84

2.82

3.9

1.6

1.25

2.50

mg/l

—

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

2.67

2.77

3.2

2.5

1.52

2.67

e6/l

0.36

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

6.43

2.75

8.3

1.2

0.00

g/l

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.87

2.73

1.3

1.4

—

(3022217) INR in Platelet poor plasma by Coagulation assay

193

2.20

2.62

17.5

13.0

1.38

1.23

inr

—

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

2.50

2.56

3.1

2.4

0.56

0.77

e6/l

0.33

(3023368) Bacteria identified in Blood by Culture

106

2.23

2.19

6.5

4.5

—

(3044889) 12 lead EKG panel

358

2.05

2.08

5.2

3.3

—

(3025941) Bacteria identified in Stool by Culture

3.20

2.00

1.1

—

(40758558) Short blood count panel - Blood

142

2.04

1.98

11.0

6.0

—

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

2.30

1.92

1.4

1.6

—

(3023024) Carbon dioxide [Partial pressure] in Capillary blood

3.26

1.85

5.7

2.9

4.83

5.13

kpa

—

(3000492) Spirometry study

2.34

1.79

1.5

1.4

—

(3052851) Hemolysis interference index of Serum or Plasma

4.05

1.74

2.4

3.4

—

(40761536) Microorganisms panel - Urine sediment

2.47

1.74

4.2

3.4

—

(3022313) Gas panel - Capillary blood

3.76

1.64

4.4

3.4

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.76

1.56

2.6

2.1

—

(40761535) Cells panel - Urine sediment

2.43

1.46

3.2

2.9

—

(3014576) Chloride [Moles/volume] in Serum or Plasma

2.37

1.43

3.7

6.8

105.56

103.80

mmol/l

—

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

2.31

1.41

5.8

2.8

—

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

2.63

1.33

2.8

3.0

23.70

25.25

mmol/l

—

(3022145) Colonoscopy Study observation

2.21

1.29

1.5

1.3

—

(3000494) Fungus identified in Specimen by Culture

2.10

1.25

1.6

1.8

—

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

283

1.64

1.22

3.5

3.1

0.00

estimate

—

(3042936) Bacteria identified in Isolate by Culture

2.06

1.20

1.9

3.4

—

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

2.61

1.17

1.4

1.6

—

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

2.07

1.12

1.5

—

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

2.09

1.09

2.7

2.2

266.89

417.52

nmol/l

—

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

289

1.59

1.08

3.6

3.1

0.00

estimate

—

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

197

1.60

1.04

1.9

1.8

97.19

103.47

pmol/l

0.30

100

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

129

0.49

1.00

2.3

2.6

—

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

284

1.54

0.98

5.3

4.3

0.00

estimate

—

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

0.00

0.98

0.0

1.5

—

213.42

—

(3044640) Blood type and Crossmatch panel - Blood

149

1.58

0.89

2.3

2.2

—

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

122

0.53

0.88

2.1

2.4

—

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

124

1.60

0.86

3.3

2.9

—

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

1.95

0.84

3.7

1.6

—

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

1.80

0.79

1.6

1.4

—

(3019225) pH of Specimen

1.93

0.76

6.0

4.6

—

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

546

1.64

0.73

19.8

9.2

83.73

86.62

ml/min/173m2

0.29

427

(4035726) Immunohistochemistry procedure

1.78

0.72

1.0

1.3

—

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

597

1.73

0.64

20.7

10.9

23.66

19.89

mg/l

0.38

432

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

372

1.40

0.63

4.3

3.8

—

1405.83

—

(3013512) EKG study

133

1.47

0.63

4.9

2.8

—

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

0.00

0.61

0.0

1.3

—

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

0.00

0.61

0.0

1.3

—

(3026008) Bacteria identified in Urine by Culture

175

1.37

0.52

2.1

2.5

—

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

1.51

0.48

2.0

1.8

37.29

27.55

u/l

—

(40761511) CBC panel - Blood by Automated count

619

1.59

0.46

19.2

9.9

—

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

115

1.39

0.43

2.2

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

510

1.35

0.42

7.7

4.6

38.78

38.37

mmol/mol

0.13

477

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

0.00

0.41

0.0

3.6

—

1.09

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.41

0.0

1.2

—

(3020891) Body temperature

0.00

0.41

0.0

4.9

—

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

0.00

0.41

0.0

1.1

—

4.11

—

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

0.00

0.41

0.0

1.4

—

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

0.00

0.41

0.0

1.1

—

1.22

—

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

0.00

0.41

0.0

1.8

—

696.73

—

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

249

1.28

0.40

2.2

2.7

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.37

0.39

1.8

1.7

—

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

0.00

0.39

0.0

1.3

—

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

143

0.73

0.36

1.4

1.5

—

(4200892) Spirometry reversibility

1.33

0.34

2.2

1.2

—

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

141

1.27

0.29

1.4

1.2

2.39

2.30

g/l

—

(40768797) Stomach Pathology biopsy report

1.33

0.29

1.3

1.1

—

(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma

1.35

0.28

1.7

4.2

26.78

23.15

—

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

0.69

0.27

3.2

2.1

—

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

154

0.81

0.21

2.8

2.1

—

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

0.00

0.21

0.0

1.0

—

(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

—

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

0.00

0.21

0.0

3.0

—

20.00

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.21

0.0

2.0

—

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

0.00

0.21

0.0

1.2

—

(3043409) Potassium [Moles/volume] in Arterial blood

0.00

0.20

0.0

3.9

—

3.73

—

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

0.00

0.20

0.0

1.5

—

(40768793) Breast Pathology biopsy report

0.00

0.20

0.0

1.2

—

(3002256) Pathology report gross observation

1.22

0.17

1.1

—

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

150

1.18

0.16

4.1

3.3

0.00

estimate

—

(3041096) Erythrocytes [Presence] in Urine by Automated

170

1.16

0.15

3.6

2.8

—

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

230

1.13

0.14

3.9

3.0

—

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

147

0.86

0.13

1.7

—

(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum

1.09

0.10

2.0

2.4

—

(1761868) Lipid panel - Serum or Plasma

195

1.11

0.09

3.6

2.4

—

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

1.12

0.09

1.3

2.0

—

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

1.09

0.08

4.6

6.0

—

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

1.10

0.07

2.8

1.5

—

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

118

0.92

0.03

2.7

1.7

—

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

1.07

0.01

3.4

4.9

1.26

2.17

ug/l

—

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

156

0.95

0.00

1.3

1.6

—

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

419

1.01

0.00

3.3

3.7

—

(40768804) Tissue Pathology biopsy report

233

0.98

0.00

1.7

1.8

—

(3019832) Treponema pallidum Ab [Presence] in Serum

101

0.99

0.00

1.2

1.7

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.7

—

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

0.00

-0.00

0.0

1.3

—

1.63

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

-0.00

0.0

1.2

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

-0.00

0.0

1.2

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.6

—

(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

2.9

—

22.88

—

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

0.00

-0.00

0.0

1.0

—

369.00

—

(4281824) Cell count and differential, peritoneal fluid

0.00

-0.00

0.0

1.2

—

(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH

0.00

-0.00

0.0

1.2

—

(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

3.2

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.4

—

(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.5

—

105.08

—

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

0.00

-0.00

0.0

1.8

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

(3011985) Renin [Units/volume] in Plasma

0.00

-0.00

0.0

1.0

—

21.16

—

(40768800) Prostate Pathology biopsy report

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.3

—

(3018301) Testosterone Free [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

202.36

—

(46235689) Lupus anticoagulant aPTT, dRVVT and PT screening panel W Reflex

0.00

-0.00

0.0

1.7

—

(40768795) Lymph node Pathology biopsy report

0.00

-0.00

0.0

1.0

—

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

0.87

-0.00

1.2

1.3

—

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: 2

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

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

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints