Hereditary nephropathy, not elsewhere classified

N14_NEPHROPATHYHER

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 — N07# Cause of death: ICD-10 — N07# 2 out of 7 registries used, show all original rules.	96
4. Check minimum number of events None	96
5. Include endpoints None	96
6. Filter based on genotype QC (FinnGen only)	96

Control definitions (FinnGen only)

Control exclude: N14_GLOMERULAR

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: N00-N08
Name in latin: Nephropathia hereditaria non alibi classificata

NAME	N14_NEPHROPATHYHER
CONTROL_EXCLUDE	N14_GLOMERULAR
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	N07
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	N07
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 Hereditary nephropathy, not elsewhere classified 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	696	397	292
Only index persons	604	359	245
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.01
Only index persons	0.01	0.01	0.01
Median age at first event (years)
Whole population	56.77	56.15	57.22
Only index persons	54.59	53.86	55.65

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	96	51	45
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	57.20	54.87	59.84

-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

No data

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.

Matched cohort

Matched cases
87: Matched controls
867

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

N07.4

ICD-10 Finland

Hereditary nephropathy, not elsewhere classified, diffuse endocapillary proliferative glomerulonephritis

+∞

40.9

N07.3

ICD-10 Finland

Hereditary nephropathy, not elsewhere classified, diffuse mesangial proliferative glomerulonephritis

+∞

29.9

L40.5

ICD-10 Finland

Arthropathic psoriasis

51.0

17.2

M07.3

ICD-10 Finland

Other psoriatic arthropathies

51.0

17.2

M07.3*L40.5

ICD-10 Finland

Other psoriatic arthropathies

32.0

17.0

202

Kela drug reimbursment

Connective tissue diseases, rheumatoid arthritis and comparable disease

8.1

11.8

R07.4

ICD-10 Finland

Chest pain, unspecified

5.1

11.3

156

L01BA01

ATC

methotrexate; systemic (folic acid analog.)

14.7

9.8

N07.9

ICD-10 Finland

Hereditary nephropathy, not elsewhere classified, unspecified

+∞

9.5

M07.0*L40.5

ICD-10 Finland

Distal interphalangeal psoriatic arthropathy

+∞

8.5

J01FF01

ATC

clindamycin; systemic

4.2

8.3

142

L40.0

ICD-10 Finland

Psoriasis vulgaris

9.1

7.8

E000001

ATC

4.3

7.6

104

TNX10

NOMESCO Finland

Arthrocentesis, unspecified region, unspecified region

7.9

7.2

L04AA01

ATC

[U] ciclosporin; systemic

43.5

6.9

138

Kela drug reimbursment

Severe anaemia associated with chronic renal failure

24.8

6.8

123

Kela drug reimbursment

Chronic disorders of vitamin D metabolism

24.8

6.8

L04AX03

ATC

methotrexate; systemic (immunosuppressants)

5.6

6.6

A02BC01

ATC

omeprazole; systemic

3.5

6.6

159

D05AX52

ATC

calcipotriol, combinations; topical

8.1

6.5

69619

ICD-8 Finland

Psoriasis and similar disorders, Psoriasis alia sive NUD (vulgaris)

+∞

6.3

NK4XE

NOMESCO Finland

Joint ultrasound examination not elsewhere classified

7.4

6.2

R50.9

ICD-10 Finland

Fever, unspecified

4.4

6.2

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

unit

cases

controls

-log₁₀(p)

N cases

N controls

(3000991) Gas panel - Venous blood

4.75

9.71

29.0

7.8

—

(3042936) Bacteria identified in Isolate by Culture

113

3.57

7.25

3.7

1.7

—

(3014111) Lactate [Moles/volume] in Serum or Plasma

4.13

7.24

39.8

5.7

mmol/l

1.3

0.09

(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay

7.18

6.94

6.6

2.0

u/ml

0.3

—

(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma

412

3.23

6.54

23.6

6.1

mmol/l

1.2

0.52

347

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

330

2.91

6.10

6.4

4.0

ng/l

30.4

41.3

0.39

240

(3012544) pH of Venous blood

3.56

5.90

21.2

4.3

—

(3023368) Bacteria identified in Blood by Culture

232

2.66

5.14

7.3

4.4

—

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

3.66

5.07

2.9

1.5

—

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

384

2.61

4.86

23.9

5.4

mmol/l

1.2

0.01

338

(3007853) Bacteria identified in Skin by Aerobe culture

3.18

4.82

2.6

1.8

—

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

14.93

4.65

20.4

8.0

mg/l

12.6

12.8

—

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

144

2.70

4.57

7.0

2.7

e6/l

0.6

0.8

0.58

(3032080) INR in Blood by Coagulation assay

321

2.45

4.46

14.0

8.1

inr

1.2

0.03

(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation

3.56

4.44

4.6

3.5

mmol/l

1.5

—

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

302

2.37

4.15

7.7

3.3

—

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

3.52

4.13

65.1

7.1

mmol/l

23.8

24.6

0.39

(3037467) Urinalysis macro (dipstick) panel - Urine

555

2.77

4.12

9.6

4.5

—

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

352

2.32

3.93

8.8

4.0

g/l

34.0

35.1

0.56

330

(3006315) Basophils [#/volume] in Blood

402

2.31

3.80

15.0

6.0

e9/l

0.0

0.25

341

(3018418) pH of Serum or Plasma

252

2.28

3.74

6.7

4.1

7.4

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

3.51

3.65

2.6

2.5

—

(3002582) Erythrocytes [#/volume] in Urine

264

2.23

3.58

8.0

3.2

e6/l

20.3

300.0

0.59

202

(3001604) Monocytes [#/volume] in Blood

401

2.22

3.50

15.2

6.0

e9/l

0.6

0.14

341

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

242

2.21

3.45

7.9

3.0

e6/l

0.4

0.5

0.06

178

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

120

2.46

3.37

1.6

1.7

—

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

386

2.17

3.36

11.2

5.6

estimate

0.0

0.00

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

386

2.17

3.36

7.7

4.1

estimate

0.0

0.00

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

3.87

3.29

1.1

1.3

—

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

2.64

3.28

1.6

—

(36304419) Bacteria [Presence] in Urine

230

2.17

3.25

7.3

2.9

—

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

137

2.35

3.21

7.8

2.9

e6/l

2.9

2.6

0.05

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

4.85

3.20

2.7

1.3

mmol/l

24.1

24.6

—

(3014007) Fractional oxyhemoglobin in Arterial blood

3.04

3.14

44.2

8.1

93.9

94.4

0.25

(3018095) Leukocytes [#/volume] in Urine

302

2.09

3.11

9.8

3.9

e6/l

74.8

50.0

0.21

216

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

133

2.31

3.02

2.3

1.8

—

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

287

2.07

3.02

4.3

3.3

mmol/l

2.3

2.4

0.57

245

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

388

2.06

2.99

7.8

4.1

estimate

0.0

0.00

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

112

2.39

2.98

4.3

2.1

umol/l

11.6

14.5

0.94

101

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

3.04

2.95

5.2

3.6

e6/l

0.0

0.1

1.15

(42870588) Differential panel, method unspecified - Blood

263

2.06

2.94

17.3

5.4

—

(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma

181

2.15

2.92

4.6

1.6

mg/l

1.0

1.1

0.17

142

(4306422)

7.02

2.91

1.0

1.2

—

(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)

2.78

2.86

7.1

3.9

ml/min/173m2

49.4

53.9

—

(3020682) Albumin/Creatinine [Ratio] in Urine

223

2.07

2.86

6.2

3.5

mg/mmol

35.9

6.7

1.08

132

(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood

8.70

2.78

3.2

3.7

—

(3012516) Albumin [Mass/volume] in Urine

209

2.06

2.75

5.5

2.9

mg/l

1720.0

44.1

0.51

130

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

333

1.96

2.67

3.6

2.3

nmol/l

76.0

76.1

0.01

288

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

103

2.33

2.67

1.7

1.6

—

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

477

2.03

2.66

20.3

4.5

mmol/l

7.1

6.7

0.71

441

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

4.94

2.65

2.7

1.4

—

(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma

149

2.13

2.59

5.3

3.3

ng/l

522.9

158.9

0.69

123

(40761535) Cells panel - Urine sediment

2.70

2.59

4.6

4.5

—

(3000494) Fungus identified in Specimen by Culture

2.31

2.54

2.6

1.4

—

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

301

1.93

2.53

7.1

4.3

—

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

4.63

2.52

2.7

1.4

—

(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma

4.63

2.52

3.7

1.6

—

(3021901) Oxygen saturation in Capillary blood

4.63

2.52

2.4

1.2

—

(3026008) Bacteria identified in Urine by Culture

258

1.94

2.50

3.7

3.2

—

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

2.33

2.48

1.8

1.6

—

(3019150) Specific gravity of Urine by Refractometry

176

2.02

2.44

6.5

4.4

kg/l

1.0

—

(3004588) Protein electrophoresis panel - Serum or Plasma

2.68

2.39

3.9

2.1

—

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

2.90

2.37

6.5

2.5

mmol/l

25.1

24.6

0.23

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

2.90

2.37

25.5

2.5

0.8

0.16

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

2.83

2.27

25.5

2.5

1.9

1.1

0.40

(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection

5.79

2.24

1.2

1.3

—

(21494890) Protein electrophoresis panel - 24 hour Urine

5.79

2.24

6.2

4.4

—

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

2.66

2.20

25.8

2.6

g/l

122.2

131.9

1.11

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

174

1.96

2.20

8.5

4.0

—

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

3.89

2.19

15.0

1.6

207.1

202.1

—

(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood

2.76

2.18

7.7

2.8

47.6

43.9

0.22

(3020961) Endomysium IgA Ab [Titer] in Serum

2.90

2.18

1.1

—

(3013742) Prealbumin [Mass/volume] in Serum or Plasma

2.33

2.17

3.4

2.6

g/l

0.2

0.20

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

5.20

2.09

1.0

—

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

5.20

2.09

1.2

1.3

—

(3019230) Fractional oxyhemoglobin in Venous blood

5.20

2.09

52.0

2.4

70.2

61.5

—

(3015736) pH of Urine

307

1.80

2.07

8.5

4.0

—

(3028626) Oxygen [Partial pressure] in Capillary blood

3.26

2.06

5.9

2.2

kpa

9.0

8.8

—

(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

3.00

2.06

1.8

1.6

—

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

163

1.91

1.99

2.7

1.5

g/l

2.2

2.8

0.69

(3022313) Gas panel - Capillary blood

2.75

1.99

4.7

4.1

—

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

3.14

1.98

1.0

1.4

—

(40760888) Immunoglobulin light chains.free panel - Serum

3.93

1.96

6.3

7.1

—

(40760892) CBC W Ordered Manual Differential panel - Blood

165

1.89

1.92

7.9

6.8

—

(3037522) Nuclear Ab [Titer] in Serum

2.10

1.91

1.7

1.5

titre

480.0

487.0

—

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

2.10

1.91

1.9

1.7

—

(3045414) Leukocytes [Presence] in Urine

3.02

1.91

1.4

—

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

3.02

1.91

1.3

1.5

g/l

0.3

0.2

—

(3000330) Specific gravity of Urine by Test strip

2.67

1.90

9.4

4.5

—

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

158

1.89

1.88

1.8

1.7

nmol/l

795.1

1210.9

1.90

125

(3050238) Crystals [Presence] in Synovial fluid by Light microscopy

3.69

1.87

2.5

1.3

—

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

210

1.79

1.81

6.5

4.3

estimate

0.0

—

(3037756) Immunofixation for Serum or Plasma

3.48

1.77

3.2

1.2

—

(40762366) Oxygen capacity [Volume Fraction] in Arterial blood

2.81

1.77

76.0

5.1

—

(3044640) Blood type and Crossmatch panel - Blood

247

1.73

1.74

4.9

2.3

—

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

2.41

1.71

1.4

—

(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum

147

1.84

1.68

1.3

u/ml

1.3

2.5

—

(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

2.36

1.64

1.4

1.5

—

(3014051) Protein [Presence] in Urine by Test strip

3.71

1.63

1.6

—

(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing

3.71

1.63

1.8

1.3

—

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

3.13

1.61

1.0

1.6

—

(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection

3.46

1.54

1.2

1.5

—

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

2.98

1.53

1.7

1.5

—

(3008037) Lactate [Moles/volume] in Venous blood

2.98

1.53

6.8

2.7

mmol/l

1.5

1.3

—

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

2.98

1.53

1.7

1.5

—

(3022145) Colonoscopy Study observation

1.94

1.51

1.3

1.4

—

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

2.61

1.48

1.3

1.2

—

(1761482) Bacteria [#/volume] in Urine by Culture

2.61

1.48

7.6

5.8

—

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

351

1.60

1.43

6.2

4.1

—

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

123

1.79

1.38

1.5

—

(3024928) Oxygen saturation in Venous blood

3.04

1.37

51.8

2.7

—

(3002179) Metamyelocytes/100 leukocytes in Blood

2.13

1.33

6.2

6.9

0.6

0.3

—

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

327

1.57

1.33

2.3

1.9

pmol/l

89.4

92.9

0.20

154

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

777

2.03

1.29

40.3

15.2

mg/l

19.8

22.3

0.48

631

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

515

1.58

1.29

6.2

3.0

u/l

89.5

48.7

1.23

483

(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum

168

1.66

1.27

1.4

1.2

u/ml

0.5

1.9

—

(40768797) Stomach Pathology biopsy report

110

1.78

1.26

1.2

1.3

—

(3023150) Myeloperoxidase Ab [Units/volume] in Serum

2.72

1.23

2.6

2.1

—

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

634

1.63

1.21

16.7

8.0

u/l

90.4

81.4

0.37

592

(3013139) Helicobacter pylori Ag [Presence] in Stool

2.12

1.21

1.3

—

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

179

1.62

1.20

5.2

2.3

—

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

2.14

1.18

1.0

—

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

163

1.63

1.17

1.8

pmol/l

531.3

455.0

0.27

136

(3027315) Oxygen [Partial pressure] in Blood

2.58

1.16

4.0

3.0

kpa

9.2

8.2

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

2.58

1.16

2.2

2.4

—

(3038515) Glucose [Moles/volume] in Venous blood

2.58

1.16

8.0

2.8

mmol/l

7.7

6.8

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

2.35

1.13

3.0

1.9

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

2.35

1.13

3.6

2.1

—

(3021589) Normoblasts [#/volume] in Blood

366

1.49

1.11

23.7

9.7

e9/l

0.0

0.18

295

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

2.28

1.10

1.1

1.7

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

2.45

1.10

1.6

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

2.45

1.10

1.4

1.6

—

(3009201) Thyrotropin [Units/volume] in Serum or Plasma

706

1.67

1.10

6.1

4.8

mu/l

1.9

2.0

0.09

629

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

475

1.49

1.09

2.8

3.0

—

(3025941) Bacteria identified in Stool by Culture

2.10

1.08

1.1

1.2

—

(3017181) Myelocytes/100 leukocytes in Blood

1.87

1.06

6.7

6.3

0.5

0.8

—

(40758558) Short blood count panel - Blood

220

1.53

1.06

8.5

8.2

—

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

1.73

1.01

1.9

1.3

—

(3022621) pH of Urine by Test strip

1.84

0.98

1.8

1.9

—

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

1.84

0.94

1.1

1.6

—

(3013512) EKG study

235

1.47

0.92

6.0

4.1

—

(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection

2.06

0.88

6.3

2.2

—

(3021440) Promyelocytes/100 leukocytes in Blood

1.78

0.86

7.2

6.5

0.0

0.2

—

(3041096) Erythrocytes [Presence] in Urine by Automated

221

1.45

0.84

6.2

3.8

—

(3026989) Triiodothyronine (T3) Free [Moles/volume] in Serum or Plasma

1.73

0.81

10.0

2.8

pmol/l

4.6

4.4

—

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

160

1.49

0.80

2.1

3.2

mmol/l

2.4

2.5

0.86

138

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

205

1.44

0.79

1.9

1.4

nmol/l

18.9

23.4

0.86

169

(4034850)

2.24

0.77

15.0

15.6

—

(36305247) Microscopic observation [Identifier] in Isolate by Gram stain

2.14

0.75

1.8

1.3

—

(36660697) Celiac disease serology panel - Serum

1.64

0.73

1.1

—

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

1.81

0.73

1.1

1.2

—

(3019225) pH of Specimen

1.62

0.65

8.5

3.8

—

(3052851) Hemolysis interference index of Serum or Plasma

1.70

0.62

7.8

3.9

—

(3025159) Blasts/100 leukocytes in Blood

1.63

0.61

6.5

0.0

0.5

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

718

1.37

0.53

7.4

5.8

mmol/mol

43.3

39.8

1.69

669

(4010399)

1.45

0.53

1.3

—

(40761536) Microorganisms panel - Urine sediment

1.42

0.52

5.8

3.6

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.60

0.50

1.4

1.6

—

(40761511) CBC panel - Blood by Automated count

809

1.44

0.47

26.9

13.4

—

(42529406) Shigella sp [Presence] in Stool by Culture

1.59

0.43

1.2

1.1

—

(3006418) Campylobacter sp identified in Tissue by Organism specific culture

1.59

0.43

1.2

1.1

—

(3014765) Yersinia sp identified in Stool by Organism specific culture

1.59

0.43

1.2

1.1

—

(40768443) Skin Pathology biopsy report

1.54

0.42

1.0

1.2

—

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

0.00

0.40

0.0

3.6

—

58.7

—

(1761868) Lipid panel - Serum or Plasma

251

0.79

0.37

4.1

3.2

—

(40768804) Tissue Pathology biopsy report

297

1.22

0.37

1.9

2.2

—

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

1.33

0.29

12.5

9.2

—

(3002256) Pathology report gross observation

1.29

0.26

1.3

1.2

—

(3000492) Spirometry study

1.22

0.26

1.4

1.7

—

(3018251) Fasting glucose [Moles/volume] in Serum or Plasma

742

1.19

0.22

6.2

4.8

mmol/l

6.1

6.0

0.47

673

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.21

0.0

1.0

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.21

0.0

2.4

—

88.2

—

(40766183) Gliadin peptide IgA Ab [Units/volume] in Serum by Immunoassay

0.00

0.21

0.0

1.1

—

1.7

—

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

723

1.17

0.20

5.4

4.1

mmol/l

1.4

1.3

0.59

657

(3044889) 12 lead EKG panel

551

1.13

0.19

6.1

4.1

—

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

196

1.16

0.18

1.4

—

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

736

1.16

0.17

29.7

14.3

ml/min/173m2

70.9

79.3

1.72

599

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.14

0.16

1.6

1.4

—

(3009542) Hematocrit [Volume Fraction] of Blood

687

1.13

0.15

51.3

15.3

37.5

39.8

0.99

498

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

198

0.89

0.12

4.1

4.4

21.7

21.4

—

(3020564) Creatinine [Moles/volume] in Serum or Plasma

816

1.13

0.09

42.3

17.8

umol/l

92.8

77.7

1.55

816

(3019060) Gas panel - Arterial blood

1.10

0.09

2.7

3.5

—

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

1.03

0.07

4.8

4.2

—

(43054914) Glucose tolerance 2 hours panel - Serum or Plasma

0.82

0.07

1.6

1.7

—

(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma

767

1.09

0.07

6.3

5.0

mmol/l

2.6

2.7

0.71

702

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

754

1.04

0.00

5.9

4.5

mmol/l

1.4

1.5

0.26

689

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

755

1.03

0.00

5.9

4.5

mmol/l

4.5

4.6

0.59

696

(3005791) Eosinophil cationic protein (ECP) [Mass/volume] in Serum

0.00

0.0

2.4

—

18.9

—

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

0.93

0.00

1.7

1.9

—

(4035726)

0.99

0.00

2.0

1.2

—

(3028679) Herpes simplex virus Ab [Presence] in Serum

0.00

0.0

1.0

—

(40764126) Parainfluenza virus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.7

—

(40763082) Lactate dehydrogenase [Enzymatic activity/volume] in Pleural fluid by Lactate to pyruvate reaction

0.00

0.0

1.1

—

157.2

—

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

0.00

0.0

1.0

—

(3045066) Thymidine kinase [Enzymatic activity/volume] in Serum

0.00

0.0

1.7

—

38.4

—

(3012413) Glucose [Moles/volume] in Serum or Plasma --2 hours post meal

0.00

0.0

1.4

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

0.0

1.3

—

(3006257) Acetylcholine receptor Ab [Moles/volume] in Serum

0.00

0.0

1.0

—

(4146454)

0.00

0.0

2.9

—

(3024666) Lithium, Blood [Moles/volume] in Serum or Plasma

0.00

0.0

6.0

—

0.6

—

(3027953) Aldolase [Enzymatic activity/volume] in Serum or Plasma

0.00

0.0

1.1

—

9.6

—

(3049506) Microalbumin [Mass/time] in Urine collected for unspecified duration

0.00

0.0

2.0

—

(3011391) Calcitriol [Moles/volume] in Serum or Plasma

0.00

0.0

1.4

—

(3023601) Vancomycin resistant enterococcus [Presence] in Specimen by Organism specific culture

0.00

0.0

2.3

—

(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination

0.00

0.0

2.0

—

(42529215) Follitropin [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

2.3

—

29.8

—

(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.0

—

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

0.00

0.0

1.6

—

(40768806) Pleura Pathology biopsy report

0.00

0.0

1.4

—

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

0.85

0.00

1.8

1.7

—

(3017569) Oxygen content in Arterial blood

0.00

0.0

2.0

—

(3041145) Herpes simplex virus IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.0

—

(3035947) Staphylolysin Ab [Units/volume] in Serum

0.00

0.0

1.3

—

(3045788) Cell count panel - Pleural fluid

0.00

0.0

1.3

—

(3053028) Streptococcus sp identified in Specimen by Organism specific culture

0.00

0.0

1.0

—

(3044242) Glucose [Moles/volume] in Arterial blood

0.00

0.0

2.1

—

(3012441) Differential panel - Pleural fluid

0.00

0.0

1.1

—

(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain

0.00

0.0

1.4

—

Mortality – FinRegistry

↥

Association

Association between endpoint N14_NEPHROPATHYHER and mortality.

Females

Parameter	HR [95% CI]	p-value
N14_NEPHROPATHYHER	1.877 [1.41, 2.5]	< 0.001
Birth year	0.999 [0.99, 1.01]	0.831

During the follow-up period (1.1.1998 — 31.12.2019), 104 out of 364 females with N14_NEPHROPATHYHER died.

Males

Parameter	HR [95% CI]	p-value
N14_NEPHROPATHYHER	2.079 [1.56, 2.77]	< 0.001
Birth year	0.985 [0.98, 0.99]	0.002

During the follow-up period (1.1.1998 — 31.12.2019), 106 out of 265 males with N14_NEPHROPATHYHER died.

Mortality risk

Mortality risk for people of age

years, who have N14_NEPHROPATHYHER.

N-year risk	Females	Males
1	0.211%	0.338%
5	1.2%	2.306%
10	3.01%	5.455%
15	5.937%	10.541%
20	10.864%	17.371%

Relationships between endpoints

↥

Index endpoint: N14_NEPHROPATHYHER – Hereditary nephropathy, not elsewhere classified

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

Extremity

rg [CI]

Extremity

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Hereditary nephropathy, not elsewhere classified

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)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints