Risteys · G6

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 — G52.3 Hospital discharge: ICD-9 — 3525 Hospital discharge: ICD-8 — 35604 Cause of death: ICD-10 — G52.3 Cause of death: ICD-9 — 3525 Cause of death: ICD-8 — 35604 2 out of 7 registries used, show all original rules.	55
4. Check minimum number of events None	55
5. Include endpoints None	55
6. Filter based on genotype QC (FinnGen only)	52

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	288	131	155
Only index persons	253	114	139
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.00	0.01
Median age at first event (years)
Whole population	58.35	61.34	55.77
Only index persons	57.78	60.91	55.20

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	52	29	23
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	61.75	62.24	61.13

-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
54: Matched controls
540

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

G52.3

ICD-10 Finland

Disorders of hypoglossal nerve

+∞

61.9

AA1CG

NOMESCO Finland

Extensive MRI examination of brain with high intensity magnet

11.4

8.6

R47.1

ICD-10 Finland

Dysarthria and anarthria

78.8

6.6

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3044290) Cell count panel - Cerebral spinal fluid

13.13

4.41

1.1

1.3

—

(3004588) Protein electrophoresis panel - Serum or Plasma

3.92

3.02

1.5

2.4

—

(3018418) pH of Serum or Plasma

134

2.42

2.50

6.3

4.2

7.40

7.39

0.24

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

4.36

2.10

1.8

4.0

0.00

g/l

—

(40768804) Tissue Pathology biopsy report

181

2.14

1.96

2.4

2.0

—

(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma

117

2.13

1.77

2.4

2.50

2.81

mg/l

0.36

103

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

203

1.93

1.52

2.8

2.7

—

estimate

—

(3021589) Normoblasts [#/volume] in Blood

223

1.92

1.49

9.7

12.8

0.00

e9/l

-0.00

184

(3019977) pH of Arterial blood

2.30

1.45

31.9

7.7

7.45

7.42

—

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

349

2.14

1.41

3.3

4.4

14.85

15.07

pmol/l

0.23

318

(3007853) Bacteria identified in Skin by Aerobe culture

2.28

1.32

1.8

1.6

—

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

275

1.78

1.15

12.5

10.7

3.97

4.29

e9/l

0.38

247

(3003458) Phosphate [Moles/volume] in Serum or Plasma

1.98

1.11

6.3

3.0

1.04

0.99

mmol/l

0.36

(3032080) INR in Blood by Coagulation assay

228

1.71

1.09

20.7

14.2

1.31

1.28

inr

0.07

191

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

258

1.72

1.07

3.4

4.6

0.00

estimate

—

(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

2.21

1.07

2.3

1.6

—

(3027238) Thyroperoxidase Ab [Units/volume] in Serum or Plasma

0.00

1.01

0.0

1.1

—

108.81

—

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

253

1.65

0.96

3.4

4.6

0.00

estimate

—

(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma

106

1.72

0.92

1.4

1.8

459.45

452.14

pmol/l

0.03

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

171

1.60

0.86

3.7

3.1

—

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

258

1.59

0.85

3.5

4.5

0.00

27.53

estimate

—

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

1.66

0.76

2.5

2.0

—

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

447

2.04

0.75

22.0

16.8

31.21

23.45

mg/l

0.82

376

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.01

0.72

2.2

2.4

—

(3044640) Blood type and Crossmatch panel - Blood

150

1.53

0.70

3.0

2.1

—

(3000492) Spirometry study

1.68

0.68

1.7

1.5

—

(3019150) Specific gravity of Urine by Refractometry

106

1.57

0.67

4.2

4.8

1.02

kg/l

—

(3019060) Gas panel - Arterial blood

1.80

0.65

10.8

5.1

—

(3037467) Urinalysis macro (dipstick) panel - Urine

309

1.50

0.64

4.1

4.8

—

(3015736) pH of Urine

210

1.46

0.62

3.1

3.7

6.70

6.20

—

121

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

1.64

0.62

2.9

2.8

1.12

2.37

e6/l

—

(3010421) pH of Blood

0.00

0.62

0.0

3.5

—

7.42

—

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

0.00

0.61

0.0

2.1

—

(3020682) Albumin/Creatinine [Ratio] in Urine

164

1.46

0.59

2.8

3.8

7.87

6.03

mg/mmol

—

105

(3012516) Albumin [Mass/volume] in Urine

155

1.46

0.58

2.4

3.2

59.77

42.32

mg/l

—

102

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

1.60

0.55

1.2

1.7

—

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

1.60

0.54

1.9

—

(3003338) MCHC [Entitic Mass/volume] in Red Blood Cells

378

1.50

0.53

26.8

21.7

329.83

332.21

g/l

1.06

378

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

113

1.45

0.49

3.3

2.0

—

(1761868) Lipid panel - Serum or Plasma

181

0.69

0.49

3.4

3.5

—

(3001604) Monocytes [#/volume] in Blood

247

1.38

0.48

7.1

6.5

0.59

0.60

e9/l

0.04

214

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

1.49

0.48

3.4

4.3

—

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

218

1.37

0.47

2.2

2.1

90.86

97.89

pmol/l

—

120

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

1.46

0.47

8.7

7.8

—

(3006315) Basophils [#/volume] in Blood

248

1.37

0.47

7.2

6.5

0.04

e9/l

0.44

214

(3000067) Parathyrin.intact [Mass/volume] in Serum or Plasma

1.67

0.44

6.4

1.5

188.86

65.91

ng/l

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.67

0.44

1.2

1.5

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

1.57

0.42

1.6

1.5

—

(3019198) Lymphocytes [#/volume] in Blood

251

1.34

0.42

7.1

6.5

1.60

1.77

e9/l

0.62

224

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

1.52

0.41

58.8

7.3

26.20

24.46

mmol/l

—

(3013290) Carbon dioxide [Partial pressure] in Blood

0.00

0.41

0.0

2.9

—

4.86

—

(3027315) Oxygen [Partial pressure] in Blood

0.00

0.41

0.0

2.9

—

8.31

—

(3012501) Base excess in Blood by calculation

0.00

0.41

0.0

2.9

—

1.88

—

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

108

1.40

0.40

1.4

—

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

1.48

0.40

2.0

1.8

—

(3013115) Eosinophils [#/volume] in Blood

253

1.32

0.38

7.2

6.7

0.14

0.20

e9/l

2.22

222

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

1.41

0.35

3.0

2.7

0.14

0.67

e6/l

—

(3023368) Bacteria identified in Blood by Culture

139

1.33

0.34

7.4

4.6

—

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

1.34

0.32

1.3

—

(40760892) CBC W Ordered Manual Differential panel - Blood

116

1.28

0.25

3.4

5.8

—

(42870588) Differential panel, method unspecified - Blood

165

1.23

0.23

7.0

5.7

—

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

112

0.76

0.22

3.2

2.9

3.60

3.77

e6/l

—

105

(3021440) Promyelocytes/Leukocytes in Blood

1.24

0.22

5.4

4.2

—

0.09

—

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

1.27

0.22

1.3

1.5

2.26

2.93

g/l

—

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

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

3.0

—

1.51

—

(3016879) Cocaine [Presence] in Urine

0.00

0.21

0.0

1.5

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.21

0.0

1.5

—

(3027008) Opiates [Presence] in Urine

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.2

—

(3024172) Erythropoietin (EPO) [Units/volume] in Serum or Plasma

0.00

0.21

0.0

1.1

—

22.35

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.21

0.0

1.5

—

(40767503) Oxygen content in Capillary blood by calculation

0.00

0.21

0.0

3.0

—

15.86

—

(3028626) Oxygen [Partial pressure] in Capillary blood

0.00

0.21

0.0

1.7

—

8.03

—

(1616796) Gas panel - Central venous blood

0.00

0.21

0.0

2.3

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.2

—

(40768793) Breast Pathology biopsy report

0.00

0.20

0.0

1.6

—

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

307

1.19

0.19

4.8

5.0

—

9228.17

—

(3000494) Fungus identified in Specimen by Culture

0.73

0.18

1.0

1.4

—

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

150

1.19

0.17

3.8

4.7

0.00

estimate

—

(3022948) Iron [Moles/volume] in Serum or Plasma

1.18

0.16

2.9

1.8

13.46

13.09

umol/l

—

(36304419) Bacteria [Presence] in Urine

132

1.19

0.15

3.3

2.8

—

estimate

—

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

259

0.87

0.14

2.7

2.9

—

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

1.20

0.13

6.2

3.0

0.88

0.79

mmol/l

1.21

(3030467) Casts [#/volume] in Urine by Automated count

144

1.16

0.12

3.3

3.0

0.19

0.42

e6/l

0.59

101

(3024354) Oxygen [Partial pressure] in Venous blood

1.15

0.10

3.2

2.9

4.20

4.23

kpa

—

(3017181) Myelocytes/Leukocytes in Blood

1.12

0.10

5.4

4.2

—

0.80

—

(4035726) Immunohistochemistry procedure

1.12

0.10

1.2

1.3

—

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

205

1.12

0.10

3.8

4.1

14.38

40.36

ng/l

1.07

148

(3000991) Gas panel - Venous blood

1.05

0.09

62.4

6.2

—

(40758558) Short blood count panel - Blood

164

0.88

0.09

11.7

6.6

—

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

1.15

0.09

1.3

—

(3013512) EKG study

174

0.89

0.09

3.2

4.2

—

(3018095) Leukocytes [#/volume] in Urine

186

1.12

0.09

4.8

4.0

8.50

58.85

e6/l

1.90

126

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

0.76

0.08

2.8

1.6

—

(3022145) Colonoscopy Study observation

0.76

0.08

1.2

1.3

—

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

137

1.13

0.08

5.0

4.6

29.36

22.93

—

(3004789) Transferrin [Mass/volume] in Serum or Plasma

0.79

0.08

3.3

1.9

2.37

2.33

g/l

—

(3026008) Bacteria identified in Urine by Culture

144

1.06

0.01

2.9

3.7

—

(3002582) Erythrocytes [#/volume] in Urine

165

0.96

0.00

3.7

3.2

30.94

24.51

e6/l

0.11

122

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

0.0

1.1

—

(40768441) Liver Pathology biopsy report

0.00

-0.00

0.0

1.0

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.2

—

(21494434) Karyotype in Bone marrow

0.00

-0.00

0.0

1.0

—

(3035715) Granulocytes [#/volume] in Blood

0.00

-0.00

0.0

2.3

—

4.28

—

(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.2

—

(40759850) Jo-1 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.2

—

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

1.02

-0.00

3.2

3.0

15.40

32.36

u/l

—

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

0.00

-0.00

0.0

1.2

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

-0.00

0.0

5.4

—

(3002256) Pathology report gross observation

0.95

-0.00

1.5

1.2

—

(3017817) Protein [Mass] in Urine collected for unspecified duration

0.00

-0.00

0.0

1.2

—

412.17

—

(3020287) Protein C actual/normal in Platelet poor plasma by Coagulation assay

0.00

-0.00

0.0

1.2

—

118.00

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

-0.00

0.0

1.6

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

-0.00

0.0

1.6

—

30.71

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

-0.00

0.0

2.7

—

89.78

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.2

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

-0.00

0.0

1.0

—

(3045142) Bone marrow Pathology biopsy report

0.00

-0.00

0.0

1.3

—

(4268621) Lupus anticoagulant assay

0.00

-0.00

0.0

1.6

—

(3042936) Bacteria identified in Isolate by Culture

1.03

-0.00

2.4

1.6

—

(40768800) Prostate Pathology biopsy report

0.00

-0.00

0.0

1.1

—

(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence

0.00

-0.00

0.0

1.4

—

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

0.97

-0.00

43.4

6.8

105.14

103.75

mmol/l

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

-0.00

0.0

1.0

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

4.08

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

3.0

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.9

—

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

0.96

-0.00

5.4

2.8

5.40

5.43

kpa

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.2

—

(3013727) Leukocytes other/Leukocytes in Blood

0.00

-0.00

0.0

4.4

—

51.00

—

(3017315) Amylase [Enzymatic activity/volume] in Urine

0.00

-0.00

0.0

1.0

—

2023.00

—

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

0.00

-0.00

0.0

1.2

—

(3018333) Ribosomal P Ab [Presence] in Serum

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.1

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

-0.00

0.0

2.8

—

(3003191) Choriogonadotropin [Presence] in Serum or Plasma

0.00

-0.00

0.0

1.6

—

(3026389) Candida sp identified in Specimen by Organism specific culture

0.00

-0.00

0.0

1.2

—

(3021901) Oxygen saturation in Capillary blood

0.00

-0.00

0.0

1.9

—

91.98

—

(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count

0.00

-0.00

0.0

3.8

—

1.00

—

Mortality – FinRegistry

↥

Association

Association between endpoint G6_DISHYP and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have G6_DISHYP.

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_DISHYP – Disorders of hypoglossal nerve

GWS hits: 1

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

NAME	G6_DISHYP
CONTROL_EXCLUDE	G6_NERPLEX
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	G523
HD_ICD_9	3525
HD_ICD_8	35604
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	G523
COD_ICD_9	3525
COD_ICD_8	35604
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

Disorders of hypoglossal nerve

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