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	557745
1. Apply sex-specific rule None	557745
2. Check conditions None	557745
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.	80
4. Check minimum number of events None	80
5. Include endpoints None	80
6. Filter based on genotype QC (FinnGen only)	67

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	67	49	18
Unadjusted period prevalence (%)	0.01	0.02	0.01
Median age at first event (years)	47.72	48.96	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
72: Matched controls
720

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

E75.2

ICD-10 Finland

Other sphingolipidosis

+∞

83.3

Z31.5

ICD-10 Finland

Genetic counselling

16.3

27.1

N08.4*E75.2

ICD-10 Finland

Glomerular disorders in Fabry(-Anderson) disease

+∞

23.2

FM1AE

NOMESCO Finland

Standard cardiac ultrasound examination

7.6

15.1

336

Kela drug reimbursment

Agalsidase alfa, agalsidase beta and migalastat

+∞

12.9

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

78.0

12.0

AA1BG

NOMESCO Finland

Standard MRI examination of brain with high intensity magnet

7.0

11.4

Z01.1

ICD-10 Finland

Examination of ears and hearing

5.9

10.2

ZX120

NOMESCO Finland

Intravenous

6.6

10.0

A16AB04

ATC

agalsidase beta; parenteral

+∞

9.6

E75.3

ICD-10 Finland

Sphingolipidosis, unspecified

+∞

8.5

XF402

NOMESCO Finland

ECG with work load test

8.2

7.7

Z01.8

ICD-10 Finland

Other specified special examinations

4.3

7.6

333

Kela drug reimbursment

Eliglustat, imiglucerase and velaglucerase alfa

+∞

7.4

6AB04, ,

NOMESCO Finland

+∞

7.4

I42.2

ICD-10 Finland

Other hypertrophic cardiomyopathy

+∞

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

FM1EE

NOMESCO Finland

Extensive structural and functional ultrasound examination of heart

4.2

7.3

TPH04

NOMESCO Finland

Cathetrisation of vein

4.3

7.0

XF404

NOMESCO Finland

Ambulatory ECG

7.6

7.0

FP4B5

NOMESCO Finland

ECG, prolonged recording (24 h)

+∞

6.3

WX892

NOMESCO Finland

Monitored bed care

8.5

6.3

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

222

7.85

14.30

9.1

4.8

37.36

36.22

g/l

0.85

211

(3012516) Albumin [Mass/volume] in Urine

163

5.37

11.42

5.8

3.1

82.55

28.90

mg/l

0.88

103

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

6.76

11.38

5.1

1.8

81.54

74.69

ml/min/173m2

0.21

(3020682) Albumin/Creatinine [Ratio] in Urine

164

5.33

11.31

6.2

3.8

13.55

5.02

mg/mmol

0.62

101

(3009508) Creatinine [Moles/volume] in Urine

189

4.68

9.51

5.7

2.9

7.19

7.63

mmol/l

0.30

160

(42870588) Differential panel, method unspecified - Blood

186

4.26

8.47

7.6

5.7

—

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

199

3.88

7.42

4.7

3.0

26.19

36.89

ng/l

0.36

126

(3018418) pH of Serum or Plasma

158

3.56

6.55

15.0

3.7

7.39

0.03

121

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

193

3.23

5.64

4.3

2.9

—

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

262

2.91

4.59

17.0

8.2

1.22

mmol/l

0.01

231

(3013115) Eosinophils [#/volume] in Blood

334

3.00

4.30

9.1

5.3

0.16

0.19

e9/l

0.70

307

(3018095) Leukocytes [#/volume] in Urine

217

2.74

4.24

5.0

3.4

29.59

61.07

e6/l

0.57

157

(40760888) Immunoglobulin light chains.free panel - Serum

10.90

4.10

8.6

1.0

—

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

4.59

3.81

8.6

4.8

23.76

24.40

mmol/l

0.31

(3004588) Protein electrophoresis panel - Serum or Plasma

4.80

3.69

7.0

1.5

—

(3037756) Immunofixation for Serum or Plasma

8.46

3.64

1.9

1.4

—

(3012544) pH of Venous blood

3.23

3.31

7.6

4.2

7.39

—

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

6.33

3.10

8.4

1.2

0.00

g/l

—

(3035715) Granulocytes [#/volume] in Blood

6.33

3.10

3.7

2.6

3.26

4.41

e9/l

—

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

3.87

3.06

4.0

1.5

3.85

2.57

mg/l

0.19

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

2.68

3.03

6.6

4.4

0.84

0.81

mmol/l

0.44

(3000991) Gas panel - Venous blood

3.39

2.86

8.5

9.6

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.79

2.76

1.5

1.4

—

(3035933) Granulocytes/Leukocytes in Blood

4.44

2.42

3.7

3.2

55.29

59.52

—

(3022145) Colonoscopy Study observation

2.72

2.35

1.5

1.3

—

(4035726) Immunohistochemistry procedure

2.98

2.33

1.0

1.4

—

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

2.37

2.23

3.6

2.7

1.52

2.64

e6/l

0.36

(3042936) Bacteria identified in Isolate by Culture

2.43

2.04

1.8

3.3

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

3.20

2.00

2.6

2.1

—

(3032080) INR in Blood by Coagulation assay

228

1.93

1.96

17.5

11.7

1.24

1.17

inr

0.28

186

(3025941) Bacteria identified in Stool by Culture

2.97

1.85

1.1

—

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

2.12

1.82

3.6

2.5

0.56

0.80

e6/l

0.40

(3000492) Spirometry study

2.23

1.80

1.5

1.4

—

(3023368) Bacteria identified in Blood by Culture

130

2.00

1.80

6.5

4.5

—

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

3.17

1.62

1.3

1.8

—

(40761535) Cells panel - Urine sediment

2.49

1.49

3.2

2.6

—

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

2.27

1.47

2.5

2.1

291.64

416.47

nmol/l

1.51

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

2.22

1.41

4.5

7.1

105.36

104.37

mmol/l

0.39

(3017895) Helicobacter pylori Ab [Units/volume] in Serum

3.08

1.38

1.0

1.8

—

4.92

—

(3000494) Fungus identified in Specimen by Culture

2.12

1.37

1.7

1.8

—

(40761536) Microorganisms panel - Urine sediment

2.18

1.35

4.5

3.4

—

(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum

2.63

1.33

1.2

—

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

2.21

1.29

5.8

3.0

—

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

137

0.46

1.27

2.7

—

(3022313) Gas panel - Capillary blood

2.75

1.23

4.6

3.6

—

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

1.89

1.23

1.7

1.8

—

(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood

2.18

1.19

27.8

4.1

1.21

1.23

mmol/l

—

(36304997) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ and CD8+ T-cells [Units/volume] in Blood

2.61

1.17

2.6

1.4

—

0.01

—

(40758558) Short blood count panel - Blood

192

1.65

1.16

10.6

5.0

—

(3009343) pH of Capillary blood

2.47

1.16

5.9

3.0

7.40

7.43

—

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

2.31

1.11

5.9

2.9

4.83

5.12

kpa

—

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

129

0.49

1.00

2.6

2.5

—

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

2.09

0.89

5.0

4.4

24.20

25.57

mmol/l

—

(3015736) pH of Urine

275

1.45

0.77

3.6

3.0

6.13

6.22

0.25

166

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

163

1.50

0.77

1.4

1.3

2.18

2.24

g/l

—

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

1.93

0.76

3.3

1.6

—

(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection

1.99

0.72

2.2

1.7

—

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

1.71

0.69

2.0

1.6

—

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

411

1.41

0.65

4.3

4.0

—

1405.67

—

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

0.00

0.61

0.0

1.2

—

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

0.00

0.61

0.0

1.2

—

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

343

1.37

0.61

3.9

3.2

0.00

estimate

—

(3013512) EKG study

190

1.39

0.58

4.5

2.7

—

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

348

1.34

0.53

3.9

3.3

0.00

estimate

—

(3021960) Folate [Moles/volume] in Serum or Plasma

167

1.36

0.49

2.0

1.5

20.69

21.14

nmol/l

0.03

138

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

0.59

0.49

3.6

2.5

—

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

341

1.31

0.48

4.0

3.2

0.00

estimate

—

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

149

1.37

0.48

4.1

3.1

—

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

150

0.69

0.47

1.5

1.6

—

(3044640) Blood type and Crossmatch panel - Blood

179

1.33

0.44

2.7

2.5

—

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

1.45

0.44

2.3

2.0

37.63

28.68

u/l

—

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

180

1.32

0.43

2.2

2.5

55.06

79.85

u/l

0.51

167

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

0.00

0.41

0.0

1.4

—

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

0.00

0.41

0.0

3.6

—

1.09

—

(40768793) Breast Pathology biopsy report

0.00

0.41

0.0

1.4

—

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

1.41

0.40

2.1

1.6

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.40

0.0

1.9

—

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

268

1.28

0.40

2.4

1.8

100.86

101.77

pmol/l

0.04

134

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

0.00

0.39

0.0

1.5

—

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

271

1.25

0.36

2.6

3.2

—

estimate

—

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

1.37

0.34

2.5

1.6

—

(3026008) Bacteria identified in Urine by Culture

196

1.25

0.32

2.4

2.7

—

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

1.24

0.28

1.3

1.4

—

(3002256) Pathology report gross observation

1.29

0.27

1.1

1.2

—

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

627

1.38

0.24

24.6

12.8

23.92

21.05

mg/l

0.29

491

(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum

1.20

0.22

1.0

1.1

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.21

0.0

1.4

—

(3011985) Renin [Units/volume] in Plasma

0.00

0.21

0.0

1.1

—

16.90

—

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

0.00

0.21

0.0

1.3

—

(3020874) Milk IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.1

—

0.08

—

(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

3.2

—

22.85

—

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

0.00

0.20

0.0

1.3

—

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

0.00

0.20

0.0

1.2

—

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

0.00

0.20

0.0

3.9

—

3.73

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

1.23

0.19

2.1

1.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.25

0.19

1.6

—

(40768797) Stomach Pathology biopsy report

1.20

0.17

1.3

1.2

—

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

130

1.19

0.17

2.7

1.8

—

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

130

1.19

0.17

2.8

—

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

1.24

0.16

1.9

4.3

26.78

22.38

—

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

180

0.86

0.15

1.5

1.6

—

(40760892) CBC W Ordered Manual Differential panel - Blood

156

1.12

0.09

6.8

4.1

—

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

1.04

0.08

1.5

2.0

—

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

1.07

0.08

4.6

6.0

—

(40761511) CBC panel - Blood by Automated count

646

1.26

0.08

21.2

11.2

—

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

162

0.91

0.07

1.7

—

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

190

1.07

0.04

4.0

3.2

0.00

estimate

—

(1761868) Lipid panel - Serum or Plasma

237

0.96

0.01

4.8

2.7

—

(40768804) Tissue Pathology biopsy report

253

1.04

0.01

1.8

—

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

434

1.04

0.00

3.4

3.7

—

(3019832) Treponema pallidum Ab [Presence] in Serum

112

0.98

0.00

1.4

1.9

—

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

165

0.96

0.00

2.8

2.4

—

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

104

0.96

0.00

3.9

5.4

1.40

2.01

ug/l

—

(3041096) Erythrocytes [Presence] in Urine by Automated

201

0.99

0.00

3.6

2.8

0.00

estimate

—

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

272

0.99

0.00

4.1

3.1

0.00

0.02

estimate

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.0

—

(4281824) Cell count and differential, peritoneal fluid

0.00

0.0

1.2

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.0

—

(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.0

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.0

2.2

—

(3045716) Anion gap in Serum or Plasma by calculation

0.00

0.0

1.3

—

10.44

—

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

0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.3

—

1.46

—

(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.4

—

18.64

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.0

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.8

—

(3020911) Cortisol [Moles/time] in 24 hour Urine

0.00

-0.00

0.0

1.0

—

57.20

—

(3010838) Calcium [Moles/time] in 24 hour Urine

0.00

-0.00

0.0

1.9

—

5.74

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

-0.00

0.0

1.0

—

(3006442) Creatine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

80.20

—

(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.0

—

(36660697) Celiac disease serology panel - Serum

1.00

-0.00

1.0

1.2

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

202.36

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

2.9

—

(40757349) CD3+CD4+ (T4 helper) cells/CD3+CD8+ (T8 suppressor cells) cells [# Ratio] in Blood

0.00

-0.00

0.0

1.4

—

0.96

—

(3005570) Glucose [Moles/volume] in Urine

0.00

-0.00

0.0

2.3

—

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

0.00

-0.00

0.0

1.2

—

(3015183) Erythrocyte sedimentation rate [Velocity] in Red Blood Cells

0.00

-0.00

0.0

1.0

—

9.60

—

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

0.00

-0.00

0.0

1.0

—

(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

3.3

—

22.88

—

(3009595) Pneumocystis jirovecii DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.2

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

-0.00

0.0

1.0

—

(3010144) Erythrocytes [#/volume] in Synovial fluid

0.00

-0.00

0.0

1.0

—

35823.60

—

(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.0

—

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

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: 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