General autosomal fish scale disease

Q17_GENERAL_AUTOSOMAL_FISH_SCALE_DISEASE

No definition available.

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

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 — Q80.0 Hospital discharge: ICD-9 — 7571A Cause of death: ICD-10 — Q80.0 Cause of death: ICD-9 — 7571A 2 out of 7 registries used, show all original rules.	49
4. Check minimum number of events None	49
5. Include endpoints None	49
6. Filter based on genotype QC (FinnGen only)	46

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

NAME	Q17_GENERAL_AUTOSOMAL_FISH_SCALE_DISEASE
CONTROL_EXCLUDE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q800
HD_ICD_9	7571A
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q800
COD_ICD_9	7571A
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 General autosomal fish scale 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-

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

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	46	22	24
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	35.53	41.00	30.51

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

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.

No data available

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction

5.04

5.61

3.7

4.4

272.60

237.07

u/l

0.21

(3019069) Monocytes/Leukocytes in Blood

196

4.08

4.49

9.4

7.3

8.95

8.53

0.22

191

(3022096) Basophils/Leukocytes in Blood

193

3.75

4.14

9.7

7.3

0.82

0.70

0.72

187

(3000494) Fungus identified in Specimen by Culture

3.82

3.79

1.3

1.4

—

(40768443) Skin Pathology biopsy report

7.16

3.67

1.0

1.2

—

(3019198) Lymphocytes [#/volume] in Blood

210

3.24

3.28

9.0

7.5

1.98

1.83

e9/l

0.40

196

(3006315) Basophils [#/volume] in Blood

204

3.07

3.11

8.7

7.6

0.05

0.04

e9/l

0.44

183

(3001604) Monocytes [#/volume] in Blood

206

3.02

8.7

7.5

0.58

e9/l

0.04

186

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

230

3.04

2.84

11.3

14.6

4.26

3.94

e9/l

0.41

207

(3015235) Bicarbonate [Moles/volume] in Capillary blood

9.12

2.81

2.0

2.2

21.88

23.47

mmol/l

—

(3013115) Eosinophils [#/volume] in Blood

212

2.87

2.76

9.5

7.8

0.22

0.19

e9/l

0.47

194

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

294

3.41

2.69

6.7

4.4

14.87

14.88

pmol/l

0.01

272

(40758558) Short blood count panel - Blood

119

2.60

2.54

5.2

7.4

—

(3026008) Bacteria identified in Urine by Culture

2.55

2.30

3.3

2.9

—

(42870588) Differential panel, method unspecified - Blood

135

2.38

2.16

7.5

6.3

—

(3020682) Albumin/Creatinine [Ratio] in Urine

103

2.42

2.12

4.7

4.0

4.58

11.23

mg/mmol

—

(3015171) Extractable nuclear Ab [Units/volume] in Serum

4.13

2.00

1.0

1.3

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

4.94

1.99

2.2

—

(3012516) Albumin [Mass/volume] in Urine

100

2.30

1.87

4.0

3.6

49.91

62.12

mg/l

—

(3013512) EKG study

118

2.21

1.79

2.8

3.2

—

(36660697) Celiac disease serology panel - Serum

2.80

1.69

1.5

1.2

—

(3025941) Bacteria identified in Stool by Culture

2.75

1.52

1.0

1.3

—

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

160

2.02

1.52

5.5

5.3

35.33

36.44

g/l

0.39

153

(3001334) Neutrophil cytoplasmic Ab [Units/volume] in Serum

3.16

1.39

1.0

1.1

—

(3023420) DNA double strand Ab [Units/volume] in Serum

2.98

1.32

1.6

1.4

—

2.66

—

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

2.82

1.25

2.8

1.1

—

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

179

1.85

1.21

3.0

3.1

—

estimate

—

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

161

1.84

1.19

7.9

6.8

1.19

1.22

mmol/l

1.25

149

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

2.56

1.18

1.1

—

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

2.67

1.18

3.4

4.5

25.06

24.34

mmol/l

—

(3042936) Bacteria identified in Isolate by Culture

2.09

1.14

2.5

1.7

—

(3015377) Calcium [Moles/volume] in Serum or Plasma

127

1.83

1.12

4.6

4.7

2.33

2.36

mmol/l

0.58

120

(3044640) Blood type and Crossmatch panel - Blood

129

1.79

1.06

2.2

2.3

—

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

1.94

1.02

2.1

2.4

—

(3037551) Cancer Ag 125 [Units/volume] in Serum or Plasma

0.00

1.01

0.0

4.2

—

79.40

—

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

330

0.57

1.00

4.3

3.4

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

373

2.18

0.91

10.0

5.6

41.20

38.82

mmol/mol

0.67

355

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

212

1.64

0.84

7.1

8.2

14.91

10.47

umol/l

0.65

199

(3002256) Pathology report gross observation

1.80

0.84

1.6

1.1

—

(40768804) Tissue Pathology biopsy report

146

1.64

0.83

3.1

1.9

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.90

0.82

2.3

1.6

—

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

0.00

0.81

0.0

2.3

—

(3015736) pH of Urine

166

1.61

0.79

5.7

3.7

6.04

6.21

0.31

(3013139) Helicobacter pylori Ag [Presence] in Stool

2.21

0.77

1.4

1.0

—

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

1.88

0.75

1.0

1.5

—

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

2.12

0.75

3.4

7.1

22.44

25.55

mmol/l

—

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

104

1.65

0.74

1.5

2.2

—

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

310

1.69

0.73

12.5

9.3

78.64

84.65

u/l

0.49

293

(3026782) Osmolality of Urine

1.75

0.68

5.4

2.1

594.80

557.94

mosm/kgh2o

—

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

1.65

0.63

2.9

1.9

2.46

2.36

g/l

—

(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma

0.00

0.61

0.0

1.1

—

0.86

—

(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma

0.00

0.61

0.0

1.1

—

1.53

—

(4035726) Immunohistochemistry procedure

1.82

0.60

2.8

1.2

—

(3000991) Gas panel - Venous blood

1.82

0.60

2.7

8.8

—

(3037467) Urinalysis macro (dipstick) panel - Urine

254

1.50

0.59

7.7

4.1

—

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

1.57

0.58

2.1

2.6

—

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

1.66

0.57

12.2

5.5

17.98

7.40

mmol/l

—

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

1.57

0.54

1.8

2.1

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.43

0.44

1.4

2.0

—

(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma

0.00

0.42

0.0

1.6

—

65.00

—

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

315

0.73

0.41

3.1

3.2

28.90

44.12

u/l

2.25

304

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

0.00

0.41

0.0

1.8

—

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

1.53

0.38

2.2

2.1

—

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

381

1.59

0.37

4.4

4.0

1.37

1.30

mmol/l

0.22

359

(3019309) Folate [Moles/volume] in Red Blood Cells

1.35

0.34

2.7

1.8

415.33

1298.00

nmol/l

—

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

179

1.31

0.33

4.2

2.8

64.16

71.82

nmol/l

0.92

165

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

132

1.32

0.31

4.6

2.9

—

(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma

1.29

0.31

2.1

2.9

10.00

8.00

umol/l

—

(3023368) Bacteria identified in Blood by Culture

1.34

0.28

5.8

5.7

—

(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection

1.31

0.24

1.2

2.1

—

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

1.28

0.23

2.4

3.1

—

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

1.25

0.23

8.8

3.4

39.60

27.78

u/l

—

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

206

1.23

0.22

6.6

4.0

247.50

0.00

estimate

—

(3000081) cloZAPine [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

21.4

—

1511.70

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.3

—

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

207

1.22

0.20

6.5

3.9

0.00

estimate

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.20

0.0

1.1

—

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

0.70

0.18

1.4

2.2

1.30

1.40

—

(1761868) Lipid panel - Serum or Plasma

201

0.83

0.18

3.2

3.0

—

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

1.23

0.18

1.9

1.8

315.38

476.23

pmol/l

—

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

1.26

0.17

1.5

1.6

—

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

1.19

0.17

1.3

2.2

—

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

1.15

0.16

2.4

2.3

3.33

2.87

mg/l

—

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

116

0.82

0.13

4.7

3.4

1.63

1.51

ug/l

—

102

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

1.12

0.08

1.4

2.2

—

(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma

128

1.13

0.08

3.4

2.0

191.43

236.73

u/l

0.11

120

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

0.83

0.07

1.4

1.5

17.11

22.43

nmol/l

—

(36304419) Bacteria [Presence] in Urine

111

0.87

0.07

5.0

2.5

—

estimate

—

(40760892) CBC W Ordered Manual Differential panel - Blood

111

1.11

0.04

9.2

5.9

—

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

107

1.04

0.00

1.8

1.9

—

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

105

1.06

0.00

7.5

4.3

0.00

estimate

—

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

125

0.95

0.00

1.5

—

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

0.00

0.0

1.6

—

62.34

—

(3003181) Sodium [Moles/volume] in Urine

0.00

0.0

1.3

—

64.56

—

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

0.00

0.0

1.7

—

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

0.00

0.0

1.6

—

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

0.00

0.0

3.4

—

2.76

—

(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method

0.00

0.0

1.3

—

(44806420) Estimation of glomerular filtration rate

0.00

0.0

1.7

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.0

1.0

—

(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma

0.00

0.0

3.7

—

97.56

—

(3026285) Alpha 1 antitrypsin [Mass/volume] in Serum or Plasma

0.00

0.0

1.0

—

1.42

—

(3045716) Anion gap in Serum or Plasma by calculation

0.00

0.0

1.7

—

9.70

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

-0.00

0.0

1.5

—

(3042596) Human coronavirus RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

4.2

—

1408.60

—

(21494890) Protein electrophoresis panel - 24 hour Urine

0.00

-0.00

0.0

1.2

—

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

1.00

-0.00

1.3

1.5

—

(4281824) Cell count and differential, peritoneal fluid

0.00

-0.00

0.0

1.2

—

(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.3

—

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

0.98

-0.00

1.6

1.5

—

(4146454) Self-monitoring of blood glucose

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.0

—

(3005715) Vancomycin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

7.1

—

12.81

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

-0.00

0.0

3.8

—

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

0.97

-0.00

8.3

4.1

—

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

0.00

-0.00

0.0

1.0

—

0.17

—

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

0.00

-0.00

0.0

1.4

—

(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma

1.02

-0.00

3.1

2.9

2.52

2.44

mmol/l

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

-0.00

0.0

1.0

—

(3032700) Glomerular basement membrane Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

(3017354) Segmented neutrophils/Leukocytes in Blood

0.00

-0.00

0.0

3.0

—

71.40

—

(4198724) Urine methamphetamine measurement

0.00

-0.00

0.0

1.8

—

(40766800) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ T-cells [Units/volume] corrected for background in Blood

0.00

-0.00

0.0

1.0

—

(40768797) Stomach Pathology biopsy report

0.96

-0.00

1.0

1.3

—

Mortality – FinRegistry

↥

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

Relationships between endpoints

↥

Index endpoint: Q17_GENERAL_AUTOSOMAL_FISH_SCALE_DISEASE – General autosomal fish scale disease

GWS hits: -

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

≡ Risteys

R14

FinnGen R13 + FinRegistry

FinnGen R12 + FinRegistry

FinnGen R11 + FinRegistry

FinnGen R10 + FinRegistry

FinnGen R10

FinnGen R9

FinnGen R8

FinnGen R7

FinnGen R6

FinnGen R5

FinnGen R4

FinnGen R3

General autosomal fish scale 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)

All original rules

Similar endpoints

Case counts by codes

Upset plot

Case counts by code for General autosomal fish scale disease (Q17_GENERAL_AUTOSOMAL_FISH_SCALE_DISEASE)

Summary Statistics

-FinRegistry-

-FinnGen-

Key figures

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

CodeWAS

LabWAS

Mortality – FinRegistry

Relationships between endpoints