Risteys · G6_FAMDYSAUT

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 — G90.1 Cause of death: ICD-10 — G90.1 2 out of 7 registries used, show all original rules.	17
4. Check minimum number of events None	17
5. Include endpoints None	17
6. Filter based on genotype QC (FinnGen only)	17

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	163	71	89
Only index persons	137	65	72
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.00	0.00
Median age at first event (years)
Whole population	43.60	45.45	41.29
Only index persons	34.59	41.54	28.32

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	17	6	11
Unadjusted period prevalence (%)	0.00	0.00	0.00
Median age at first event (years)	49.78	69.27	39.15

-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

unit

cases

controls

-log₁₀(p)

N cases

N controls

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

0.00

1.58

0.0

1.4

—

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

3.11

1.30

3.3

2.0

e6/l

1.7

4.0

—

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

3.00

1.27

2.4

4.4

—

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

2.68

1.24

4.6

3.2

—

(3015736) pH of Urine

2.68

1.24

3.6

3.8

—

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

111

0.37

1.19

2.6

3.5

—

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

0.00

1.09

0.0

1.5

—

(3013826) Glucose [Moles/volume] in Serum or Plasma

2.62

1.09

3.6

14.9

mmol/l

6.3

6.4

0.10

(3044889) 12 lead EKG panel

0.38

1.09

4.2

3.9

—

(42870588) Differential panel, method unspecified - Blood

2.53

1.06

5.8

6.5

—

(40758558) Short blood count panel - Blood

2.63

1.02

17.5

9.9

—

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

0.00

0.87

0.0

2.2

—

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

0.00

0.86

0.0

1.6

—

(3032080) INR in Blood by Coagulation assay

2.07

0.76

11.8

11.9

—

1.2

—

(3026782) Osmolality of Urine

2.20

0.75

3.0

1.6

mosm/kgh2o

604.2

445.9

—

(3037467) Urinalysis macro (dipstick) panel - Urine

2.05

0.69

5.0

4.5

—

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

136

0.46

0.68

6.0

4.5

mmol/l

4.3

4.6

0.46

125

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

135

0.48

0.67

5.8

4.5

mmol/l

1.6

1.4

0.47

123

(21494755) Public health laboratory ask at order entry panel

0.00

0.65

0.0

1.1

—

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

0.00

0.65

0.0

2.8

—

(3013512) EKG study

1.89

0.62

4.3

4.5

—

(3026008) Bacteria identified in Urine by Culture

1.94

0.49

1.8

4.7

—

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

0.00

0.43

0.0

1.9

—

(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma

0.00

0.43

0.0

1.8

—

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

130

0.57

0.43

5.0

4.4

mmol/l

1.1

1.4

1.47

118

(3042936) Bacteria identified in Isolate by Culture

0.00

0.42

0.0

4.8

—

(3002256) Pathology report gross observation

0.00

0.42

0.0

1.2

—

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

1.58

0.36

3.4

2.7

nmol/l

84.1

74.1

—

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

101

1.64

0.35

8.1

3.2

pmol/l

14.8

14.9

0.05

(36304419) Bacteria [Presence] in Urine

1.49

0.27

6.2

2.7

—

(3009508) Creatinine [Moles/volume] in Urine

1.44

0.26

3.4

3.1

mmol/l

8.5

8.9

—

(3033658) Prothrombin time (PT) actual/Normal

1.40

0.26

3.4

6.0

88.0

86.2

—

(3023368) Bacteria identified in Blood by Culture

1.31

0.24

4.2

5.9

—

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

1.47

0.24

3.8

3.7

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.22

0.0

1.0

—

(3025941) Bacteria identified in Stool by Culture

0.00

0.22

0.0

1.0

—

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

0.00

0.22

0.0

4.9

—

25.5

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.22

0.0

1.0

—

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

0.00

0.22

0.0

1.7

—

(3021447) Carbon dioxide [Partial pressure] in Venous blood

0.00

0.22

0.0

5.3

—

5.7

—

(3014007) Fractional oxyhemoglobin in Arterial blood

0.00

0.22

0.0

37.7

—

94.4

—

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

0.00

0.22

0.0

1.1

—

(3024354) Oxygen [Partial pressure] in Venous blood

0.00

0.22

0.0

5.7

—

4.7

—

(3016879) Cocaine [Presence] in Urine

0.00

0.22

0.0

1.0

—

(3027008) Opiates [Presence] in Urine

0.00

0.22

0.0

1.0

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.22

0.0

1.0

—

(3012544) pH of Venous blood

0.00

0.22

0.0

6.8

—

(40761536) Microorganisms panel - Urine sediment

0.00

0.22

0.0

3.2

—

(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection

0.00

0.22

0.0

1.1

—

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

0.00

0.22

0.0

7.7

—

25.7

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

0.00

0.21

0.0

32.2

—

0.6

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

0.00

0.21

0.0

32.2

—

1.5

—

(3000991) Gas panel - Venous blood

0.00

0.21

0.0

35.1

—

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

1.38

0.21

7.5

8.7

u/l

72.2

72.3

0.01

(3020779) Urea [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

18.2

—

8.9

—

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

0.00

0.21

0.0

1.7

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.12

0.11

5.8

4.3

—

(3001122) Ferritin [Mass/volume] in Serum or Plasma

1.24

0.11

1.8

3.0

ug/l

90.3

135.1

—

(3013707) Erythrocyte sedimentation rate by Westergren method

100

1.28

0.10

5.5

3.8

mm/h

6.5

9.9

0.95

(3052851) Hemolysis interference index of Serum or Plasma

0.00

0.0

2.3

—

(40768804) Tissue Pathology biopsy report

1.03

0.00

3.6

1.8

—

(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood

0.00

0.0

3.7

—

57.4

—

(3010421) pH of Blood

0.00

0.0

1.4

—

7.4

—

(3013290) Carbon dioxide [Partial pressure] in Blood

0.00

0.0

1.3

—

5.1

—

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

0.00

0.0

1.3

—

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

0.00

0.0

5.4

—

133.3

—

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

0.00

0.0

1.2

—

(3019060) Gas panel - Arterial blood

0.00

0.0

61.4

—

(36305247) Microscopic observation [Identifier] in Isolate by Gram stain

0.00

0.0

2.0

—

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

0.00

0.0

109.5

—

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

0.00

0.0

2.3

—

0.6

—

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

0.00

0.0

2.0

—

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

0.00

0.0

2.0

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

0.00

0.0

5.2

—

0.9

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

0.00

0.0

2.1

—

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

0.00

0.0

1.6

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

120

1.00

0.00

6.0

5.5

mmol/mol

38.7

38.9

0.03

112

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

0.00

0.0

3.3

—

23.9

—

(3027315) Oxygen [Partial pressure] in Blood

0.00

0.0

1.3

—

7.9

—

(1616796) Gas panel - Central venous blood

0.00

0.0

2.3

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

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

0.00

0.0

50.6

—

24.9

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.8

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

0.00

0.0

5.2

—

1.4

—

(3008898) HLA-B27 [Presence]

0.00

0.0

1.0

—

(3020891) Body temperature

0.00

0.0

4.6

—

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

103

0.93

0.00

2.3

3.5

u/l

40.6

47.5

—

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

0.00

0.0

10.3

—

1.1

—

(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal

0.00

0.0

1.1

—

(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.7

—

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.0

—

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

0.00

0.0

8.4

—

26.2

—

(3005895) Myoglobin [Mass/volume] in Serum or Plasma

0.00

0.0

3.7

—

614.3

—

(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum

0.00

0.0

1.2

—

(3000330) Specific gravity of Urine by Test strip

0.00

0.0

4.4

—

Mortality – FinRegistry

↥

Association

Association between endpoint G6_FAMDYSAUT and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have G6_FAMDYSAUT.

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: G6_FAMDYSAUT – Familial dysautonomia

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

Extremity

rg [CI]

Extremity

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

NAME	G6_FAMDYSAUT
CONTROL_EXCLUDE	G6_AUTONOM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	G901
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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	G901
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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

Familial dysautonomia

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