Neurofibromatosis, type 2

Q17_NEUROFIBROMATOSIS_2

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 — Q85.01 Cause of death: ICD-10 — Q85.01 2 out of 7 registries used, show all original rules.	68
4. Check minimum number of events None	68
5. Include endpoints None	68
6. Filter based on genotype QC (FinnGen only)	68

Control definitions (FinnGen only)

Control exclude: Q17_OTHER_CONGEN_MALFO

Extra metadata

First used in FinnGen datafreeze: DF12

NAME	Q17_NEUROFIBROMATOSIS_2
CONTROL_EXCLUDE	Q17_OTHER_CONGEN_MALFO
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q8501
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q8501
COD_ICD_9
COD_ICD_8
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 Neurofibromatosis, type 2 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-

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

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	68	42	26
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	44.77	43.31	47.14

-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

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3003396) Base excess in Arterial blood by calculation

5.88

9.07

8.4

5.8

0.2

2.1

mmol/l

1.00

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

6.03

7.87

7.6

10.2

24.5

24.3

mmol/l

0.07

(3014218) Bicarbonate [Moles/volume] standard in Arterial blood

8.20

6.89

12.8

5.5

24.4

25.4

mmol/l

—

(4035726)

5.20

6.71

1.3

1.4

—

(3044640) Blood type and Crossmatch panel - Blood

166

3.48

6.04

2.4

2.3

—

(3002256) Pathology report gross observation

4.15

6.03

1.5

1.2

—

(3000991) Gas panel - Venous blood

4.41

5.26

10.8

9.7

—

(3014111) Lactate [Moles/volume] in Serum or Plasma

4.79

5.16

9.9

7.0

1.1

1.2

mmol/l

0.18

(3014007) Fractional oxyhemoglobin in Arterial blood

5.27

4.98

12.8

5.3

96.6

94.8

1.94

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

123

3.17

4.89

2.3

2.4

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

5.06

4.76

12.4

5.0

1.1

1.3

0.51

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

5.06

4.76

12.8

5.0

0.6

0.7

0.45

(3014702) Chromogranin A [Moles/volume] in Serum or Plasma

12.79

4.38

3.1

6.0

2.4

1.0

nmol/l

—

(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma

10.80

3.57

2.5

1.2

—

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

10.80

3.57

3.0

3.3

382.5

317.7

umol/l

—

(3026179) Normetanephrine [Moles/volume] in Serum or Plasma

10.80

3.57

2.5

1.2

0.6

0.4

nmol/l

—

(40768804) Tissue Pathology biopsy report

217

2.55

3.50

3.0

1.7

—

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

246

2.52

3.39

4.1

4.3

—

(40762366) Oxygen capacity [Volume Fraction] in Arterial blood

5.01

3.24

10.1

7.0

—

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

3.56

3.08

4.2

3.8

—

(3012544) pH of Venous blood

3.18

3.01

4.0

9.9

—

(3030981) Hyaline casts [#/volume] in Urine by Automated count

4.55

3.00

1.2

2.3

0.7

0.0

e6/l

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.77

2.81

1.3

1.6

—

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

193

2.24

2.66

7.7

6.3

36.8

36.0

g/l

0.39

186

(3032080) INR in Blood by Coagulation assay

180

2.19

2.49

5.8

6.8

1.0

1.1

inr

—

(3052851) Hemolysis interference index of Serum or Plasma

4.46

2.43

4.0

2.4

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

5.89

2.25

1.2

1.4

—

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

153

0.33

2.12

5.2

2.0

—

(3019060) Gas panel - Arterial blood

3.22

2.01

4.4

5.6

—

(3035637) Corticotropin [Mass/volume] in Plasma

4.81

1.97

1.6

1.3

—

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

2.28

1.94

2.3

3.1

4.4

3.4

e6/l

—

(3004119) Hemoglobin [Mass/volume] in Venous blood

3.42

1.94

2.6

6.9

142.6

130.3

g/l

—

(3000494) Fungus identified in Specimen by Culture

2.33

1.86

2.4

1.4

—

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

171

1.96

1.85

2.1

1.9

103.7

94.9

pmol/l

0.39

(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma

0.00

1.78

0.0

1.5

—

(3044889) 12 lead EKG panel

368

1.90

1.61

3.4

3.2

—

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

122

0.36

1.57

4.6

1.8

—

(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

2.89

1.47

1.3

1.5

—

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

498

2.12

1.37

14.7

9.6

97.4

89.4

ml/min/173m2

1.42

402

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

144

1.78

1.30

2.8

45.8

60.9

u/l

2.42

133

(3022313) Gas panel - Capillary blood

2.53

1.27

2.3

6.9

—

(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay

2.76

1.24

2.0

8.6

3.4

g/l

—

(3050129) First trimester maternal screen panel - Serum or Plasma

0.00

1.19

0.0

1.3

—

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

326

1.65

1.16

7.3

12.0

4.5

4.0

e9/l

0.72

289

(3042936) Bacteria identified in Isolate by Culture

1.96

1.13

4.1

2.7

—

(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma

410

1.70

1.11

7.8

7.6

71.3

77.4

u/l

0.71

379

(3027273) Bicarbonate [Moles/volume] in Venous blood

2.49

1.11

3.2

4.4

27.0

23.9

mmol/l

—

(3020891) Body temperature

2.37

1.05

4.8

4.1

—

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

0.00

1.00

0.0

1.7

—

(3002385) Erythrocyte distribution width [Ratio]

485

1.70

0.90

18.2

16.1

13.5

0.08

478

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

1.83

0.88

2.5

1.9

344.7

386.0

nmol/l

0.40

(3013115) Eosinophils [#/volume] in Blood

281

1.51

0.86

5.8

8.9

0.3

0.2

e9/l

0.96

253

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

0.47

0.86

2.6

2.1

—

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

108

0.51

0.81

3.0

2.2

—

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

0.00

0.81

0.0

1.6

—

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

1.80

0.79

2.2

27.0

27.3

u/l

—

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

2.26

0.78

1.0

1.1

—

(40758558) Short blood count panel - Blood

145

1.54

0.78

5.6

9.9

—

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

561

1.85

0.76

19.1

12.4

21.7

20.3

mg/l

0.13

416

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

192

1.48

0.74

3.2

—

(3019198) Lymphocytes [#/volume] in Blood

278

1.45

0.73

5.4

8.2

2.1

1.9

e9/l

0.27

250

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.50

0.73

1.4

1.6

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

1.99

0.72

2.0

2.2

—

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

1.92

0.70

1.8

1.3

—

(3006315) Basophils [#/volume] in Blood

271

1.42

0.68

5.5

8.3

0.0

e9/l

0.81

242

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

131

1.51

0.68

4.3

3.7

—

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

1.56

0.65

2.6

2.9

0.5

0.7

e6/l

—

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

1.78

0.65

1.4

—

(42870588) Differential panel, method unspecified - Blood

179

1.43

0.63

6.9

8.8

—

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

0.00

0.61

0.0

1.3

—

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

0.00

0.61

0.0

1.5

—

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.61

0.0

1.2

—

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

0.00

0.61

0.0

1.7

—

(40761511) CBC panel - Blood by Automated count

594

1.82

0.61

17.7

11.0

—

(3006999) Ribonucleoprotein extractable nuclear Ab [Units/volume] in Serum

0.00

0.61

0.0

1.2

—

17.7

—

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

0.00

0.61

0.0

1.4

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

0.00

0.60

0.0

1.5

—

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

0.00

0.60

0.0

1.5

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

0.00

0.60

0.0

1.5

—

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

0.00

0.60

0.0

1.5

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

0.00

0.60

0.0

1.5

—

(3021589) Normoblasts [#/volume] in Blood

258

1.37

0.57

7.7

9.8

0.0

e9/l

0.00

212

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

1.52

0.56

4.3

7.9

—

(3023368) Bacteria identified in Blood by Culture

110

1.47

0.55

4.8

4.3

—

(3001604) Monocytes [#/volume] in Blood

271

1.34

0.51

5.7

8.3

0.7

0.6

e9/l

1.22

240

(3000492) Spirometry study

1.54

0.49

2.1

1.5

—

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

0.61

0.46

4.8

1.7

—

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

152

1.35

0.43

1.7

1.8

1.3

1.4

mmol/l

0.12

133

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

171

1.33

0.43

3.6

3.1

19.8

ng/l

0.00

101

(3049717) Cytology report of Urine Cyto stain

0.00

0.41

0.0

2.4

—

(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma

0.00

0.41

0.0

1.9

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.39

0.0

1.6

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.39

0.0

1.4

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.39

0.0

1.4

—

(3037467) Urinalysis macro (dipstick) panel - Urine

381

1.27

0.36

4.1

—

(3023520) Reticulocytes [#/volume] in Blood

1.43

0.36

3.2

5.1

62.5

71.4

e9/l

—

(3026008) Bacteria identified in Urine by Culture

138

1.31

0.35

3.8

2.7

—

(40760892) CBC W Ordered Manual Differential panel - Blood

129

0.74

0.31

3.0

5.1

—

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

1.33

0.29

1.8

2.0

—

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

1.33

0.29

1.8

2.0

—

(3015736) pH of Urine

218

1.23

0.29

4.0

3.3

—

(36660697) Celiac disease serology panel - Serum

1.26

0.28

1.3

1.1

—

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

158

0.78

0.27

2.2

1.4

—

(3004716) Salmonella sp identified in Stool by Organism specific culture

1.38

0.24

1.0

1.3

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.30

0.23

1.0

1.3

—

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

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

2.8

—

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

0.00

0.21

0.0

1.0

—

(3051387) C reactive protein [Mass/volume] in Capillary blood

0.00

0.21

0.0

2.8

—

23.2

—

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

0.00

0.21

0.0

1.9

—

9.2

—

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

0.00

0.20

0.0

1.1

—

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

0.00

0.20

0.0

1.3

—

(3023150) Myeloperoxidase Ab [Units/volume] in Serum

0.00

0.20

0.0

1.1

—

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

0.00

0.20

0.0

1.1

—

(1761868) Lipid panel - Serum or Plasma

203

0.85

0.18

3.2

2.4

—

(3009542) Hematocrit [Volume Fraction] of Blood

529

1.21

0.18

20.2

14.6

40.4

0.01

421

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

1.22

0.15

1.7

2.0

—

(36304419) Bacteria [Presence] in Urine

153

1.15

0.12

3.1

3.0

—

(3019225) pH of Specimen

1.15

0.10

17.4

4.0

—

(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma

1.12

0.08

2.3

1.6

—

(21494755) Public health laboratory ask at order entry panel

0.82

0.08

1.3

—

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

213

0.91

0.07

3.6

3.3

—

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

102

0.86

0.07

1.8

1.5

21.1

21.6

nmol/l

—

(3041096) Erythrocytes [Presence] in Urine by Automated

161

0.91

0.06

2.5

2.7

—

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

340

1.06

0.04

4.2

4.1

—

39.8

—

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

113

1.08

0.02

1.5

1.4

—

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

171

0.99

0.00

1.4

1.5

—

(3013512) EKG study

137

1.03

0.00

3.7

2.9

—

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

438

1.01

0.00

3.0

3.5

—

(40768797) Stomach Pathology biopsy report

0.88

0.00

1.2

1.3

—

(40762485) Glomerular basement membrane Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.1

—

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

0.00

0.0

2.0

—

(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma

0.00

0.0

2.3

—

2.6

—

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

0.00

0.0

1.0

—

(40760888) Immunoglobulin light chains.free panel - Serum

0.00

0.0

5.0

—

(21494434) Karyotype in Bone marrow

0.00

0.0

1.3

—

(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma

0.00

0.0

4.9

—

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

0.00

0.0

1.1

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

0.0

1.5

—

(3008295) Osmolality of Serum or Plasma

0.00

0.0

1.0

—

280.2

—

(3028679) Herpes simplex virus Ab [Presence] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3016650) Hepatitis A virus Ab [Presence] in Serum

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

(4062490)

0.00

0.0

1.2

—

(3021952) Alkaline phosphatase isoenzymes [Enzymatic activity/volume] in Serum or Plasma by Heat stability

0.00

0.0

1.7

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood

0.00

0.0

5.7

—

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

0.00

0.0

1.5

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

0.0

2.7

—

(3000208) Alpha tocopherol [Moles/volume] in Serum or Plasma

0.00

0.0

2.7

—

25.7

—

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

1.00

0.00

2.2

1.7

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.7

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

(40759844) Sjogrens syndrome-B 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

1.1

—

(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.0

—

(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.8

—

(3036782) Glucose [Moles/volume] in Pleural fluid

0.00

0.0

1.2

—

6.0

—

(40763082) Lactate dehydrogenase [Enzymatic activity/volume] in Pleural fluid by Lactate to pyruvate reaction

0.00

-0.00

0.0

1.2

—

266.8

—

(3010375) cycloSPORINE [Mass/volume] in Blood

0.00

-0.00

0.0

38.0

—

154.0

—

(3021125) Hepatitis C virus RNA [Presence] in Serum or Plasma by NAA with probe detection

0.00

-0.00

0.0

1.6

—

(3022575) Varicella zoster virus IgG Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

1597.4

—

(3027953) Aldolase [Enzymatic activity/volume] in Serum or Plasma

0.00

-0.00

0.0

2.2

—

4.4

—

(3030429) Borrelia sp DNA [Identifier] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(3013201) Beta-2-Microglobulin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

2.4

—

4.0

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

-0.00

0.0

1.0

—

(3045788) Cell count panel - Pleural fluid

0.00

-0.00

0.0

1.4

—

(3012441) Differential panel - Pleural fluid

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

3.6

—

14.7

—

(3003434) Protein [Mass/volume] in Pleural fluid

0.00

-0.00

0.0

1.6

—

37.7

—

(44816808) CXCL13 Ag [Mass/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.0

—

(3027456) Digoxin [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

3.0

—

0.6

—

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

0.00

-0.00

0.0

1.4

—

41.4

—

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

0.00

-0.00

0.0

1.4

—

Mortality – FinRegistry

↥

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

Relationships between endpoints

↥

Index endpoint: Q17_NEUROFIBROMATOSIS_2 – Neurofibromatosis, type 2

GWS hits: 3

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

≡ Risteys

FG R12 + FR

FinnGen R11 + FinRegistry

FinnGen R10 + FinRegistry

FinnGen R10

FinnGen R9

FinnGen R8

FinnGen R7

FinnGen R6

FinnGen R5

FinnGen R4

FinnGen R3

Neurofibromatosis, type 2

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)

All original rules

Similar endpoints

Case counts by codes

Upset plot

Case counts by code for Neurofibromatosis, type 2 (Q17_NEUROFIBROMATOSIS_2)

Summary Statistics

-FinRegistry-

-FinnGen-

Key figures

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

CodeWAS (R11)

LabWAS

Mortality – FinRegistry

Relationships between endpoints