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	519972
1. Apply sex-specific rule None	519972
2. Check conditions None	519972
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.	46
4. Check minimum number of events None	46
5. Include endpoints None	46
6. Filter based on genotype QC (FinnGen only)	45

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:

No upset plot: unknown.

No upset table: unknown.

Summary Statistics

↥

-FinRegistry-

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

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	45	22	23
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	35.23	41.00	29.71

-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 (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

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3018010) Neutrophils/100 leukocytes in Blood

178

4.02

4.53

6.6

6.5

55.38

57.13

0.36

171

(3002030) Lymphocytes/100 leukocytes in Blood

181

3.91

4.35

6.8

6.7

29.43

28.26

0.22

175

(3019069) Monocytes/100 leukocytes in Blood

175

3.72

4.18

8.1

7.2

8.25

8.10

0.06

170

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

4.36

3.70

3.0

4.0

286.77

242.32

u/l

0.23

(3006315) Basophils [#/volume] in Blood

179

3.24

3.47

6.3

7.0

0.05

0.04

e9/l

0.18

163

(3001604) Monocytes [#/volume] in Blood

181

3.19

3.36

6.4

6.9

0.58

e9/l

0.00

165

(3013115) Eosinophils [#/volume] in Blood

184

3.10

3.21

7.2

7.4

0.21

0.19

e9/l

0.32

170

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

263

3.55

3.11

4.8

4.0

14.61

15.02

pmol/l

0.49

237

(3019198) Lymphocytes [#/volume] in Blood

188

2.99

3.02

6.9

6.8

2.01

1.82

e9/l

0.53

175

(40758558) Short blood count panel - Blood

2.89

2.91

5.6

8.0

—

(3022096) Basophils/100 leukocytes in Blood

166

2.76

2.77

7.9

6.7

0.80

0.72

0.35

158

(3000494) Fungus identified in Specimen by Culture

3.48

2.64

1.4

1.3

—

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

215

2.60

2.29

9.3

13.4

4.39

3.97

e9/l

0.54

193

(40768443) Skin Pathology biopsy report

5.45

2.12

1.0

1.3

—

(3013512) EKG study

2.44

2.04

3.1

3.4

—

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

4.95

1.99

1.0

1.4

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

4.95

1.99

2.2

—

(3025941) Bacteria identified in Stool by Culture

3.56

1.97

1.0

1.3

—

(40760892) CBC W Ordered Manual Differential panel - Blood

181

2.19

1.77

7.4

7.0

—

(3026008) Bacteria identified in Urine by Culture

2.26

1.64

3.7

2.9

—

(3012516) Albumin [Mass/volume] in Urine

2.21

1.50

3.3

3.1

72.60

62.12

mg/l

—

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

139

1.94

1.32

5.4

4.9

34.48

36.09

g/l

0.61

133

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

2.98

1.32

2.6

1.1

—

(3020682) Albumin/Creatinine [Ratio] in Urine

2.08

1.31

4.6

3.6

7.94

12.07

mg/mmol

—

(3002256) Pathology report gross observation

2.33

1.26

1.5

1.1

—

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

2.82

1.25

3.4

4.5

25.06

24.47

mmol/l

—

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

2.82

1.25

3.4

22.44

25.78

mmol/l

—

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

2.54

1.12

3.4

4.6

133.40

133.10

g/l

—

(3009343) pH of Capillary blood

2.54

1.12

3.8

3.7

—

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

164

1.80

1.11

2.7

2.8

—

(3017732) Neutrophils [#/volume] in Blood

2.18

1.05

5.6

2.7

4.85

4.12

e9/l

—

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

321

0.56

1.03

4.4

3.3

—

(3042936) Bacteria identified in Isolate by Culture

1.95

1.02

2.2

1.5

—

(3000991) Gas panel - Venous blood

2.40

0.97

2.7

7.0

—

(3044640) Blood type and Crossmatch panel - Blood

115

1.76

0.95

2.3

2.2

—

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

280

1.82

0.94

10.1

8.5

80.00

84.22

u/l

0.29

265

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

1.82

0.90

2.0

2.3

—

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

1.94

0.90

2.3

2.1

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.94

0.90

1.8

1.4

—

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

191

1.68

0.89

5.4

7.6

15.07

10.36

umol/l

0.64

178

(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)

352

2.04

0.86

14.1

11.1

91.94

89.68

ml/min/173m2

0.21

278

(40768804) Tissue Pathology biopsy report

136

1.68

0.86

2.4

1.8

—

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

0.00

0.82

0.0

4.5

—

88.54

—

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

0.00

0.81

0.0

2.3

—

(40763571) Iron/Transferrin [Ratio] in Serum or Plasma

1.88

0.75

3.0

1.9

27.57

26.05

—

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

1.83

0.74

3.0

1.9

2.51

2.47

g/l

—

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

114

1.62

0.72

4.6

4.7

2.32

2.36

mmol/l

0.75

106

(36660697) Celiac disease serology panel - Serum

1.95

0.71

1.6

1.1

—

(3037467) Urinalysis macro (dipstick) panel - Urine

231

1.54

0.66

7.5

3.9

—

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

1.88

0.61

11.8

5.4

17.98

7.29

mmol/l

—

(4035726) Immunohistochemistry procedure

1.88

0.61

2.5

1.2

—

(3026782) Osmolality of Urine

1.62

0.59

5.7

2.0

600.56

575.96

mosm/kgh2o

—

(3044889) 12 lead EKG panel

256

1.49

0.56

3.1

3.2

—

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

171

1.42

0.48

9.6

4.9

0.00

estimate

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.47

0.47

1.4

1.9

—

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

1.43

0.44

1.9

1.8

315.38

494.81

pmol/l

—

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

1.46

0.43

1.6

1.28

1.42

mmol/l

0.29

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

117

1.42

0.42

4.6

2.7

—

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

0.00

0.42

0.0

1.4

—

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

0.00

0.42

0.0

1.5

—

65.00

—

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

1.53

0.42

2.0

1.7

—

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

1.53

0.42

8.8

3.0

39.60

27.74

u/l

—

(3023368) Bacteria identified in Blood by Culture

1.47

0.41

5.5

5.6

—

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

1.48

0.40

1.0

1.4

—

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

0.63

0.39

2.0

1.6

—

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

1.44

0.39

2.0

3.3

—

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

1.44

0.39

2.4

1.8

—

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

1.43

0.39

1.3

2.1

—

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

168

1.34

0.36

7.1

3.7

0.00

estimate

—

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

1.35

0.34

2.7

1.8

415.33

1298.00

nmol/l

—

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

1.41

0.33

2.1

2.5

10.00

8.38

umol/l

—

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

1.33

0.30

1.4

2.4

—

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

1.26

0.29

7.8

4.1

—

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

1.33

0.28

2.4

2.1

3.33

3.18

mg/l

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

335

1.34

0.27

9.7

4.9

42.06

39.37

mmol/mol

0.55

316

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

0.00

0.21

0.0

1.3

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

17.8

—

1457.40

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.21

0.0

1.1

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.20

0.0

1.2

—

(3041096) Erythrocytes [Presence] in Urine by Automated

110

1.25

0.20

5.8

3.0

—

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

110

1.25

0.20

3.5

1.9

201.08

276.05

u/l

0.17

102

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

1.22

0.19

1.4

2.3

—

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

133

1.19

0.14

7.5

3.9

—

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

285

0.87

0.11

2.6

2.9

32.15

44.87

u/l

1.39

274

(3002385) Erythrocyte distribution width [Ratio]

347

1.17

0.09

18.8

15.3

14.78

14.14

0.30

342

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

0.80

0.09

1.2

2.1

1.30

1.45

—

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

0.80

0.09

3.4

3.0

2.54

2.45

mmol/l

—

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

0.89

0.07

4.0

3.2

1.60

1.54

ug/l

—

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

0.89

0.07

1.4

1.7

—

(1761868) Lipid panel - Serum or Plasma

170

0.91

0.05

2.8

2.6

—

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

114

0.95

0.00

1.5

—

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

0.00

-0.00

0.0

3.3

—

2.82

—

(3003181) Sodium [Moles/volume] in Urine

0.00

-0.00

0.0

1.1

—

61.43

—

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

1.00

-0.00

1.4

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

3.9

—

105.50

—

(4281824) Cell count and differential, peritoneal fluid

0.00

-0.00

0.0

1.2

—

(36304419) Bacteria [Presence] in Urine

100

1.00

-0.00

4.8

2.4

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

-0.00

0.0

1.6

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

-0.00

0.0

1.0

—

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

1.00

-0.00

1.3

1.5

—

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

0.00

-0.00

0.0

9.4

—

13.10

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

-0.00

0.0

3.8

—

(3026179) Normetanephrine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

0.44

—

(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

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

(3000208) Alpha tocopherol [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

24.60

—

(21494890) Protein electrophoresis panel - 24 hour Urine

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

1.46

—

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

0.00

-0.00

0.0

1.3

—

(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay

0.00

-0.00

0.0

5.4

—

163.33

—

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

0.00

-0.00

0.0

1.6

—

(3001788) Aldosterone [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

215.00

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

(40762485) Glomerular basement membrane Ab [Units/volume] in Serum by Immunoassay

0.00

-0.00

0.0

1.2

—

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

FG R12 + FR

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

Summary Statistics

-FinRegistry-

-FinnGen-

Key figures

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

CodeWAS (R11)

LabWAS

Mortality – FinRegistry

Relationships between endpoints