This is a non-core endpoint: only basic statistics are computed.

Neuropathy in association with hereditary ataxia

G6_NEUROHERAT

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 — G60.2 Cause of death: ICD-10 — G60.2 2 out of 7 registries used, show all original rules.	14
4. Check minimum number of events None	14
5. Include endpoints None	14
6. Filter based on genotype QC (FinnGen only)	14

Control definitions (FinnGen only)

Control exclude: G6_POLYNEU

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: G60
Name in latin: Neuropathia cum ataxia hereditaria

NAME	G6_NEUROHERAT
CONTROL_EXCLUDE	G6_POLYNEU
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	G602
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	G602
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

Similar endpoints

↥

List of similar endpoints to Neuropathy in association with hereditary ataxia 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:

Not enough data for upset plot.

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	81	40	41
Only index persons	74	38	36
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	-	47.94	52.55
Only index persons	49.52	46.92	52.25

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	14	7	7
Unadjusted period prevalence (%)	0.00	0.00	0.00
Median age at first event (years)	52.21	47.74	56.68

-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

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

6.66

2.84

4.8

3.3

—

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

3.54

1.52

4.1

3.9

—

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

3.97

1.50

3.0

1.9

0.8

0.9

e6/l

—

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

3.97

1.50

6.0

4.2

0.9

0.8

mmol/l

—

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

3.63

1.37

3.1

2.4

0.4

0.5

e6/l

—

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

2.87

1.19

3.6

2.5

—

(36304419) Bacteria [Presence] in Urine

2.51

0.95

3.3

2.4

—

(3015736) pH of Urine

2.48

0.89

4.6

3.2

—

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

2.46

0.84

1.6

2.0

121.5

107.0

ug/l

—

(3026008) Bacteria identified in Urine by Culture

2.54

0.82

2.8

2.7

—

(3023368) Bacteria identified in Blood by Culture

2.21

0.74

3.6

4.1

—

(3002582) Erythrocytes [#/volume] in Urine

2.42

0.71

3.3

2.5

5.9

1906.3

e6/l

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.00

0.66

0.0

1.6

—

(3019550) Sodium [Moles/volume] in Serum or Plasma

118

+∞

0.65

23.8

14.6

140.9

139.9

mmol/l

0.62

113

(3023103) Potassium [Moles/volume] in Serum or Plasma

118

+∞

0.65

24.1

14.3

4.0

mmol/l

0.30

113

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

2.07

0.58

5.6

12.0

4.3

4.0

e9/l

—

(3033658) Prothrombin time (PT) actual/Normal

1.87

0.49

2.2

3.3

98.8

94.6

—

(40758558) Short blood count panel - Blood

1.79

0.47

1.6

7.2

—

(42870588) Differential panel, method unspecified - Blood

1.87

0.45

5.0

4.3

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

0.00

0.44

0.0

1.7

—

29.4

—

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

0.00

0.43

0.0

2.3

—

(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma

1.69

0.40

5.6

8.8

9.6

10.5

umol/l

—

(3021589) Normoblasts [#/volume] in Blood

1.48

0.25

3.2

13.6

0.0

e9/l

—

(3022096) Basophils/100 leukocytes in Blood

1.54

0.24

4.7

6.0

0.9

0.5

—

(3006315) Basophils [#/volume] in Blood

1.41

0.24

5.4

7.2

0.0

e9/l

—

(3013115) Eosinophils [#/volume] in Blood

1.37

0.23

5.6

7.1

0.2

e9/l

—

(3007853) Bacteria identified in Skin by Aerobe culture

0.00

0.22

0.0

1.6

—

(3001019) Free T4 and TSH panel - Serum or Plasma

0.00

0.22

0.0

1.0

—

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

0.00

0.22

0.0

2.2

—

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

0.00

0.21

0.0

1.5

—

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

1.25

0.12

5.0

4.3

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

1.27

0.11

16.2

6.4

1.2

mmol/l

—

(3019198) Lymphocytes [#/volume] in Blood

1.33

0.11

5.9

7.3

2.2

2.0

e9/l

—

(3044889) 12 lead EKG panel

1.26

0.11

4.8

3.6

—

(4010399)

0.00

0.0

1.3

—

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

0.00

0.0

9.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.8

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

0.00

0.0

1.2

—

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

1.13

0.00

3.0

3.7

—

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

0.00

0.0

1.0

—

(3008898) HLA-B27 [Presence]

0.00

0.0

1.2

—

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

0.00

0.0

2.4

—

0.0

—

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

0.00

0.0

1.0

—

(3005702) Mycobacterium sp identified in Specimen by Organism specific culture

0.00

0.0

2.0

—

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

0.00

0.0

1.0

—

(40768443) Skin Pathology biopsy report

0.00

0.0

1.4

—

(3000620) Complement C3 [Mass/volume] in Serum or Plasma

0.00

0.0

1.8

—

1.3

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

0.00

0.0

2.0

—

0.2

—

(3022621) pH of Urine by Test strip

0.00

0.0

1.9

—

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

0.00

0.0

1.3

—

(3010813) Leukocytes [#/volume] in Blood

131

+∞

0.00

24.8

18.9

6.7

e9/l

0.01

126

(4035726)

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint G6_NEUROHERAT and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have G6_NEUROHERAT.

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_NEUROHERAT – Neuropathy in association with hereditary ataxia

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

Neuropathy in association with hereditary ataxia

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