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

Refsum disease

G6_REFSUM

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 — G60.1 Hospital discharge: ICD-9 — 3563 Cause of death: ICD-10 — G60.1 Cause of death: ICD-9 — 3563 2 out of 7 registries used, show all original rules.	13
4. Check minimum number of events None	13
5. Include endpoints None	13
6. Filter based on genotype QC (FinnGen only)	13

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: Morbus Refsum

NAME	G6_REFSUM
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	G601
HD_ICD_9	3563
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	G601
COD_ICD_9	3563
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 Refsum disease 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	104	49	55
Only index persons	88	45	43
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	-	54.65	58.71
Only index persons	55.90	54.65	57.20

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	13	-	11
Unadjusted period prevalence (%)	0.00	-	0.00
Median age at first event (years)	63.48	-	63.09

-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

3.04

1.15

4.8

5.5

—

(36304419) Bacteria [Presence] in Urine

2.48

0.81

2.8

1.8

—

(3044640) Blood type and Crossmatch panel - Blood

2.37

0.78

3.4

2.8

—

(3023368) Bacteria identified in Blood by Culture

2.16

0.72

7.6

5.3

—

(3015736) pH of Urine

1.99

0.46

5.8

5.0

—

(3021589) Normoblasts [#/volume] in Blood

1.92

0.46

8.7

11.1

0.0

e9/l

—

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

1.79

0.44

4.3

4.1

—

(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma

0.00

0.44

0.0

4.9

—

32.1

—

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

1.73

0.43

4.0

3.1

—

(3037467) Urinalysis macro (dipstick) panel - Urine

1.55

0.25

4.1

5.0

—

(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma

0.69

0.24

6.0

5.2

1.7

2.7

ug/l

—

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

0.00

0.22

0.0

1.2

—

1.4

—

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

0.00

0.22

0.0

1.2

—

(3005785) Creatine kinase.MB [Mass/volume] in Serum or Plasma

0.00

0.22

0.0

3.8

—

6.6

—

(4035726)

0.00

0.22

0.0

1.2

—

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

0.00

0.22

0.0

4.0

—

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

1.35

0.12

6.8

5.3

—

(3044889) 12 lead EKG panel

1.29

0.11

4.3

4.2

—

(3003338) MCHC [Mass/volume]

1.29

0.11

29.0

24.2

334.3

334.1

g/l

—

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

0.00

0.0

2.3

—

2.2

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.3

—

(3043409) Potassium [Moles/volume] in Arterial blood

0.00

0.0

2.3

—

4.1

—

(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.3

—

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

0.00

0.0

1.2

—

(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method

0.00

0.0

1.5

—

92.7

—

(3025245) SCL-70 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.3

—

(3016921) Smith extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.3

—

(3004588) Protein electrophoresis panel - Serum or Plasma

0.00

0.0

5.2

—

(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum

0.00

0.0

2.3

—

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

0.00

0.0

1.4

—

(4010399)

0.00

0.0

1.0

—

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

0.00

0.0

2.8

—

(21494755) Public health laboratory ask at order entry panel

0.00

0.0

1.4

—

(3019060) Gas panel - Arterial blood

0.00

0.0

2.3

—

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

0.00

0.0

1.0

—

(3019225) pH of Specimen

0.00

0.0

2.3

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

0.00

0.0

2.1

—

(3000492) Spirometry study

0.00

0.0

1.9

—

(4268621)

0.00

0.0

1.8

—

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

0.91

0.00

4.0

5.2

7.3

7.1

mmol/l

—

(3036489) Thrombin time

0.00

0.0

1.7

—

19.7

—

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

0.00

0.0

1.2

—

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

0.00

0.0

2.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint G6_REFSUM and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have G6_REFSUM.

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_REFSUM – Refsum disease

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

Refsum disease

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