Moyamoya

I9_MOYAMO

No definition available.

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 — I67.5 Hospital discharge: ICD-9 — 4375 Cause of death: ICD-10 — I67.5 Cause of death: ICD-9 — 4375 2 out of 7 registries used, show all original rules.	42
4. Check minimum number of events None	42
5. Include endpoints None	42
6. Filter based on genotype QC (FinnGen only)	42

Control definitions (FinnGen only)

Control exclude: I9_CEREBVASC

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: I67
Name in latin: Morbus moyamoya

NAME	I9_MOYAMO
CONTROL_EXCLUDE	I9_CEREBVASC
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	I675
HD_ICD_9	4375
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	I675
COD_ICD_9	4375
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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 Moyamoya based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

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	260	184	73
Only index persons	240	170	70
Unadjusted period prevalence (%)
Whole population	0.00	0.01	0.00
Only index persons	0.01	0.01	0.00
Median age at first event (years)
Whole population	43.29	42.88	44.67
Only index persons	42.72	41.59	45.44

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	42	30	12
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	40.18	38.03	45.56

-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

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

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(1001509) Gas and Carbon monoxide and Electrolytes panel - Arterial blood

+∞

7.50

2.6

0.0

—

(3027946) Carbon dioxide [Partial pressure] in Arterial blood

7.49

6.48

4.0

9.3

4.9

5.3

kpa

0.50

(3027801) Oxygen [Partial pressure] in Arterial blood

7.49

6.48

4.0

9.3

17.8

13.6

kpa

0.83

(3019473) Protein [Mass/volume] in Cerebral spinal fluid

10.63

4.50

1.3

1.4

494.0

359.2

mg/l

—

(3009445) Proteinase 3 Ab [Units/volume] in Serum

11.66

4.18

1.0

—

(3020044) Glucose [Moles/volume] in Cerebral spinal fluid

10.19

3.93

1.1

1.4

3.5

3.4

mmol/l

—

(3020630) Protein [Mass/volume] in Serum or Plasma

9.04

3.71

1.0

1.4

67.3

66.4

g/l

—

(3004588) Protein electrophoresis panel - Serum or Plasma

11.37

3.61

1.0

2.2

—

(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method

11.37

3.61

1.0

1.2

—

(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay

8.13

3.51

3.1

1.1

—

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

9.73

3.38

5.0

9.6

22.8

24.2

mmol/l

—

(3003284) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum by Immunofluorescence

8.50

3.16

1.2

1.3

—

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

8.50

3.16

1.2

2.5

122.0

185.4

—

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

3.67

2.94

1.9

2.5

5.9

5.1

e6/l

—

(3000991) Gas panel - Venous blood

5.76

2.86

2.4

8.2

—

(3044290) Cell count panel - Cerebral spinal fluid

9.23

2.82

1.2

1.5

—

(3016879) Cocaine [Presence] in Urine

5.37

2.72

1.6

1.1

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

6.15

2.64

2.8

10.1

0.6

0.8

—

(3016502) Oxygen saturation in Arterial blood

5.02

2.60

3.3

10.1

98.1

94.8

—

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

105

2.73

2.52

3.6

2.1

16.2

58.6

ng/l

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

5.63

2.49

2.8

9.4

0.9

2.3

—

(3027944) Amphetamines [Presence] in Urine

4.44

2.37

1.4

1.1

—

(3000764) Benzodiazepines [Presence] in Urine

4.44

2.37

1.6

1.1

—

(3028300) Cannabinoids [Presence] in Urine

4.44

2.37

1.6

1.1

—

(3027008) Opiates [Presence] in Urine

4.44

2.37

1.6

1.1

—

(3044640) Blood type and Crossmatch panel - Blood

2.60

2.24

2.4

2.3

—

(3026008) Bacteria identified in Urine by Culture

2.73

2.18

4.5

2.0

—

(3021589) Normoblasts [#/volume] in Blood

155

2.51

2.16

8.8

6.2

0.0

e9/l

0.00

122

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

2.46

2.02

5.4

2.5

—

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

3.93

1.91

1.5

1.6

—

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

3.93

1.91

2.8

1.6

—

(40768797) Stomach Pathology biopsy report

2.81

1.84

1.2

1.3

—

(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma

2.69

1.82

2.7

3.0

79.5

182.6

ng/l

—

(3005719) IgG [Mass/volume] in Serum or Plasma

3.71

1.82

1.3

2.3

8.6

10.3

g/l

—

(36304419) Bacteria [Presence] in Urine

2.40

1.78

5.8

2.3

—

(3025941) Bacteria identified in Stool by Culture

3.50

1.73

1.3

1.2

—

(1001926) Buprenorphine [Presence] in Urine by Screen method

3.63

1.57

1.8

1.1

—

(40768804) Tissue Pathology biopsy report

137

2.07

1.44

2.9

1.8

—

(3026782) Osmolality of Urine

2.31

1.37

7.4

2.1

455.7

592.9

mosm/kgh2o

1.25

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

2.17

1.34

2.1

—

(3002385) Erythrocyte distribution width [Ratio]

315

2.46

1.23

18.9

12.1

14.5

13.5

0.72

307

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

2.16

1.11

2.2

1.7

—

(3037467) Urinalysis macro (dipstick) panel - Urine

239

1.89

1.01

6.7

3.6

—

(3013115) Eosinophils [#/volume] in Blood

172

1.75

0.93

6.5

5.6

0.2

e9/l

0.84

161

(42870588) Differential panel, method unspecified - Blood

1.80

0.92

4.3

5.3

—

(3032080) INR in Blood by Coagulation assay

1.80

0.92

10.1

4.7

1.1

inr

—

(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction

2.02

0.85

9.2

2.8

186.7

234.7

u/l

—

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

256

1.81

0.85

2.7

2.6

39.0

37.6

u/l

0.06

249

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

0.00

0.82

0.0

1.4

—

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

2.33

0.79

2.8

8.3

106.4

105.1

mmol/l

—

(3013512) EKG study

1.75

0.76

3.8

2.6

—

(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection

1.85

0.74

1.9

1.6

—

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

105

1.67

0.73

2.3

2.2

79.6

72.7

nmol/l

0.41

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

309

1.79

0.71

6.3

4.7

37.4

38.5

mmol/mol

0.35

296

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

1.70

0.69

9.2

3.1

0.0

estimate

—

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

153

1.59

0.68

4.9

3.9

—

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

108

1.60

0.65

1.9

1.7

107.1

96.6

pmol/l

—

(3009201) Thyrotropin [Units/volume] in Serum or Plasma

333

1.93

0.65

5.8

3.8

1.6

1.8

mu/l

0.41

311

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

0.00

0.62

0.0

1.6

—

1.4

—

(3022096) Basophils/100 leukocytes in Blood

147

1.53

0.60

5.6

4.9

0.6

0.07

136

(3023368) Bacteria identified in Blood by Culture

1.63

0.60

5.8

4.5

—

(3019309) Folate [Moles/volume] in Red Blood Cells

1.72

0.58

1.8

1.5

1738.8

1150.5

nmol/l

—

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

1.57

0.58

1.9

1.5

14.0

22.3

nmol/l

—

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

1.58

0.57

1.8

4.8

2.4

2.3

mmol/l

0.43

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

290

0.66

0.56

3.9

4.0

—

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

112

1.53

0.55

2.5

20.7

27.3

u/l

1.70

103

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

103

1.54

0.54

1.7

2.1

—

(3019198) Lymphocytes [#/volume] in Blood

170

1.47

0.52

7.0

4.8

2.0

1.9

e9/l

0.09

158

(3042936) Bacteria identified in Isolate by Culture

1.62

0.51

1.9

2.4

—

(3006504) Eosinophils/100 leukocytes in Blood

151

1.47

0.51

5.5

5.1

2.5

2.9

0.58

140

(3019069) Monocytes/100 leukocytes in Blood

152

1.46

0.49

5.6

5.4

10.6

8.0

0.95

143

(3018010) Neutrophils/100 leukocytes in Blood

153

1.44

0.47

6.6

5.0

55.1

57.9

0.47

144

(3000850) Epithelial cells [#/volume] in Urine

1.47

0.45

9.1

2.0

4.0

4.4

e6/l

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.47

0.44

10.1

2.1

—

(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay

0.00

0.42

0.0

1.9

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.42

0.0

1.1

—

(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain

0.00

0.42

0.0

1.2

—

(3024891) Influenza virus A+B Ag [Presence] in Specimen

0.00

0.42

0.0

1.3

—

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

0.00

0.42

0.0

1.1

—

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

0.00

0.42

0.0

1.1

—

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

0.00

0.42

0.0

1.1

—

(36660697) Celiac disease serology panel - Serum

1.53

0.42

1.0

1.1

—

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

0.00

0.41

0.0

1.5

—

238.9

—

(3006315) Basophils [#/volume] in Blood

166

1.39

0.41

7.1

4.8

0.0

e9/l

0.04

150

(3001604) Monocytes [#/volume] in Blood

166

1.39

0.41

7.1

4.8

0.7

0.6

e9/l

0.56

150

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

342

1.69

0.40

5.1

3.9

4.5

4.8

mmol/l

1.34

324

(3022145) Colonoscopy Study observation

1.54

0.38

1.0

1.2

—

(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma

259

1.39

0.36

5.1

3.3

14.2

14.5

pmol/l

0.39

241

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

1.39

0.35

2.0

2.1

—

(1761868) Lipid panel - Serum or Plasma

140

1.36

0.35

3.4

2.6

—

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

122

1.36

0.33

9.1

2.8

—

(3044889) 12 lead EKG panel

228

0.77

0.30

4.1

2.9

—

(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma

346

1.58

0.29

5.6

4.1

2.5

2.9

mmol/l

2.08

326

(3026493) Urate [Moles/volume] in Serum or Plasma

0.70

0.26

1.7

2.5

57420.0

330.0

umol/l

—

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

0.74

0.25

1.7

1.5

—

(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma

1.32

0.22

1.8

1.5

2.4

1.2

—

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

1.3

—

10.3

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.21

0.0

1.1

—

(3004490) Bicarbonate [Moles/volume] standard in Capillary blood

0.00

0.21

0.0

3.9

—

25.0

—

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

119

1.26

0.21

1.6

1.5

—

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

158

1.24

0.21

7.7

2.8

0.0

estimate

—

(3002523) Influenza virus A Ag [Presence] in Specimen

0.00

0.21

0.0

1.2

—

(3003740) Influenza virus B Ag [Presence] in Specimen

0.00

0.21

0.0

1.2

—

(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma

0.00

0.20

0.0

1.5

—

43.3

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

0.00

0.20

0.0

1.4

—

(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma

1.22

0.19

1.0

1.7

301.3

450.7

ng/l

—

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

160

1.22

0.18

9.7

4.1

0.0

estimate

—

(3009542) Hematocrit [Volume Fraction] of Blood

341

1.39

0.17

14.8

11.4

39.7

40.6

0.28

280

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

341

1.39

0.17

5.3

3.8

1.4

1.5

mmol/l

0.76

320

(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting

323

1.28

0.16

5.1

3.5

1.5

1.3

mmol/l

0.89

304

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

163

1.18

0.14

7.9

3.0

0.0

estimate

—

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

1.21

0.12

1.6

1.7

—

(3013650) Neutrophils [#/volume] in Blood by Automated count

195

1.15

0.11

8.5

7.5

3.9

4.3

e9/l

0.60

174

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

1.08

0.09

1.8

1.5

—

(3015736) pH of Urine

122

0.87

0.08

7.1

2.7

—

(40758558) Short blood count panel - Blood

0.88

0.07

4.3

6.6

—

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

1.13

0.05

2.1

1.7

—

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

0.97

0.00

2.7

2.3

—

(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(4211845)

0.00

0.0

1.4

—

(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(40759836) Histone Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells

0.00

0.0

2.6

—

(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum

0.00

0.0

1.2

—

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

0.00

0.0

2.8

—

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.0

1.1

—

(40771527) Human papilloma virus E6+E7 mRNA [Presence] in Cervix by NAA with probe detection

0.00

0.0

1.6

—

(3042975) Streptococcus sp identified in Isolate by Organism specific culture

0.00

0.0

1.0

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

0.00

0.0

1.8

—

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

0.91

0.00

3.1

2.4

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.8

—

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

1.05

0.00

2.4

1.7

—

(3050238) Crystals [Presence] in Synovial fluid by Light microscopy

0.00

0.0

1.0

—

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

0.00

0.0

1.6

—

13.9

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

(36032269) Testosterone Free [Moles/volume] in Serum or Plasma by calculation

0.00

0.0

1.6

—

205.4

—

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

0.86

0.00

1.8

3.4

—

(3044941) Cell count panel - Synovial fluid

0.00

0.0

1.4

—

(4281824)

0.00

0.0

1.0

—

(3003181) Sodium [Moles/volume] in Urine

0.00

0.0

1.7

—

79.2

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.2

—

(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.9

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.89

0.00

1.6

1.8

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.1

—

(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

0.00

0.0

1.3

—

(3019897) Erythrocyte distribution width [Ratio] by Automated count

0.00

0.0

1.3

—

12.8

—

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

0.00

0.0

1.5

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.03

0.00

11.5

2.6

—

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.0

1.1

—

(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

0.00

0.0

1.0

—

(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(40759040) C peptide [Moles/volume] in Serum or Plasma --post meal

0.00

0.0

1.2

—

1.9

—

(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.0

1.2

—

(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing

0.00

0.0

2.2

—

(44816844) Macroprolactin [Units/volume] in Serum or Plasma

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(3046279) Procalcitonin [Mass/volume] in Serum or Plasma

0.00

0.0

1.2

—

2.7

—

(3005082) Progesterone [Moles/volume] in Serum or Plasma

0.00

0.0

1.0

—

38.5

—

(3009466) Valproate [Moles/volume] in Serum or Plasma

0.00

0.0

3.0

—

324.4

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

0.00

0.0

1.5

—

Mortality – FinRegistry

↥

Association

Association between endpoint I9_MOYAMO and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have I9_MOYAMO.

N-year risk	Females	Males
1	No data	No data
5	No data	No data
10	No data	No data
15	No data	No data
20	No data	No data

Relationships between endpoints

↥

Index endpoint: I9_MOYAMO – Moyamoya

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

Moyamoya

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)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints