Profound mental retardation

F5_PRORET

mental retardation: ['Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. IQ scores between 70 and 79 are in the borderline mentally retarded range. Scores below 67 are in the retarded range. (Joynt, Clinical Neurology, 1992, Ch55, p28)']

Suggest a new description

Endpoint definition

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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 — F73 Hospital discharge: ICD-9 — 3182 Hospital discharge: ICD-8 — 314 Cause of death: ICD-10 — F73 Cause of death: ICD-9 — 3182 Cause of death: ICD-8 — 314 2 out of 7 registries used, show all original rules.	44
4. Check minimum number of events None	44
5. Include endpoints None	44
6. Filter based on genotype QC (FinnGen only)	42

Control definitions (FinnGen only)

Control exclude: F5_MENTRET

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: F70-F79
Name in latin: Retardatio mentalis profunda

NAME	F5_PRORET
CONTROL_EXCLUDE	F5_MENTRET
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	F73
HD_ICD_9	3182
HD_ICD_8	314
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	F73
COD_ICD_9	3182
COD_ICD_8	314
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 Profound mental retardation 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	3013	1422	1589
Only index persons	2026	948	1078
Unadjusted period prevalence (%)
Whole population	0.04	0.04	0.04
Only index persons	0.04	0.03	0.04
Median age at first event (years)
Whole population	23.23	24.05	22.46
Only index persons	24.02	25.08	23.09

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	42	24	18
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	22.69	29.64	13.42

-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

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

(3023368) Bacteria identified in Blood by Culture

4.37

5.40

6.1

3.3

—

(3018418) pH of Serum or Plasma

3.48

3.87

3.3

3.2

7.38

7.40

—

(3007853) Bacteria identified in Skin by Aerobe culture

4.07

3.26

1.8

1.4

—

(3010421) pH of Blood

9.18

2.82

4.4

1.5

7.40

7.42

—

(3013290) Carbon dioxide [Partial pressure] in Blood

9.18

2.82

4.4

1.3

5.04

5.13

kpa

—

(3027315) Oxygen [Partial pressure] in Blood

9.18

2.82

4.4

1.3

8.88

8.90

kpa

—

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

161

2.75

2.64

12.4

9.3

1.22

mmol/l

0.06

147

(3002173) Hemoglobin [Mass/volume] in Arterial blood

4.41

2.61

12.6

7.8

115.13

129.81

g/l

—

(3026008) Bacteria identified in Urine by Culture

2.77

2.58

4.9

2.3

—

(3014576) Chloride [Moles/volume] in Serum or Plasma

3.41

2.58

9.3

6.9

104.18

104.41

mmol/l

0.04

(3018095) Leukocytes [#/volume] in Urine

128

2.67

2.56

6.4

4.0

57.06

86.76

e6/l

0.21

(3014007) Fractional oxyhemoglobin in Arterial blood

4.68

2.47

15.3

18.2

96.77

92.68

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

4.68

2.47

15.3

18.2

0.80

0.74

—

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

123

2.58

2.39

5.3

3.6

—

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

107

2.59

2.37

1.6

1.8

101.97

96.47

pmol/l

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

4.41

2.36

15.3

17.3

0.94

1.87

—

(3016502) Oxygen saturation in Arterial blood

3.84

2.31

13.5

17.3

98.36

95.38

—

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

169

2.55

2.29

4.3

8.7

8.74

15.89

umol/l

2.09

160

(3022217) INR in Platelet poor plasma by Coagulation assay

126

2.49

2.24

4.0

7.3

1.11

1.16

inr

—

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

2.71

2.09

16.2

10.0

25.17

25.02

mmol/l

0.04

(3027946) Carbon dioxide [Partial pressure] in Arterial blood

3.39

2.05

13.5

15.7

4.99

5.25

kpa

—

(3027801) Oxygen [Partial pressure] in Arterial blood

3.39

2.05

13.5

15.7

14.29

13.40

kpa

—

(3000991) Gas panel - Venous blood

2.68

1.95

9.8

12.7

—

(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells

4.55

1.87

1.0

1.9

—

(3000494) Fungus identified in Specimen by Culture

2.88

1.87

1.6

1.8

—

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

3.69

1.81

1.0

1.6

—

(3004490) Bicarbonate [Moles/volume] standard in Capillary blood

2.66

1.81

10.5

7.3

24.74

24.44

mmol/l

0.11

(3022313) Gas panel - Capillary blood

2.60

1.74

9.0

7.5

—

(3020891) Body temperature

3.88

1.66

3.2

9.0

—

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

3.00

1.66

4.6

3.0

—

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

2.22

1.60

7.1

3.2

0.00

estimate

—

(40761536) Microorganisms panel - Urine sediment

3.14

1.56

6.7

2.9

—

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

208

2.16

1.56

8.9

5.8

6.42

6.53

mmol/l

0.09

191

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

119

0.35

1.55

2.4

1.7

—

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

164

2.02

1.42

6.3

3.5

0.00

estimate

—

(36304419) Bacteria [Presence] in Urine

103

2.06

1.39

3.8

3.2

—

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

167

1.96

1.33

7.5

4.9

0.00

estimate

—

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

2.07

1.33

5.2

3.9

—

(3037467) Urinalysis macro (dipstick) panel - Urine

227

2.01

1.29

5.4

3.9

—

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

2.04

1.28

1.9

2.5

3.13

2.89

mg/l

0.15

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

169

1.92

1.26

6.3

3.4

0.00

estimate

—

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

2.24

1.22

1.9

1.8

—

(3019198) Lymphocytes [#/volume] in Blood

213

1.87

1.11

7.7

6.8

2.54

2.08

e9/l

0.88

187

(3048929) Epstein Barr virus Ab [Presence] in Serum

0.00

1.02

0.0

1.7

—

(3016879) Cocaine [Presence] in Urine

0.00

1.02

0.0

1.1

—

(3028300) Cannabinoids [Presence] in Urine

0.00

1.01

0.0

1.2

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

1.01

0.0

1.2

—

(3027944) Amphetamines [Presence] in Urine

0.00

1.01

0.0

1.2

—

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

0.00

1.01

0.0

1.5

—

(3027008) Opiates [Presence] in Urine

0.00

1.01

0.0

1.2

—

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

1.96

0.97

3.5

3.3

1.02

0.85

e6/l

—

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

2.10

0.95

2.3

10.3

5.07

5.52

mmol/l

—

(3042936) Bacteria identified in Isolate by Culture

2.10

0.95

2.9

2.8

—

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

117

1.74

0.90

6.5

3.4

—

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

155

1.68

0.86

2.6

2.7

—

(1001926) Buprenorphine [Presence] in Urine by Screen method

0.00

0.82

0.0

1.1

—

(3010813) Leukocytes [#/volume] in Blood

417

0.43

0.79

34.7

17.5

7.65

6.70

e9/l

1.52

403

(3000963) Hemoglobin [Mass/volume] in Blood

417

0.43

0.79

35.0

18.1

130.67

135.78

g/l

1.48

410

(3007461) Platelets [#/volume] in Blood

417

0.43

0.79

34.5

17.4

253.56

256.83

e9/l

0.10

403

(3026361) Erythrocytes [#/volume] in Blood

417

0.43

0.79

34.5

17.4

4.41

4.59

e12/l

1.70

403

(3024731) MCV [Entitic volume]

417

0.43

0.79

34.5

17.3

90.67

88.72

1.45

410

(3035941) MCH [Entitic mass]

417

0.43

0.79

34.4

17.3

30.13

29.74

0.65

410

(3041096) Erythrocytes [Presence] in Urine by Automated

1.77

0.78

5.7

2.6

—

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

1.73

0.77

1.3

1.5

—

(3012544) pH of Venous blood

1.83

0.76

2.6

7.3

—

(40760892) CBC W Ordered Manual Differential panel - Blood

198

1.61

0.74

9.0

7.1

—

(3007628) Bicarbonate [Moles/volume] standard in Venous blood

1.69

0.65

2.9

6.7

22.88

22.98

mmol/l

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.62

0.0

1.1

—

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

0.00

0.62

0.0

4.6

—

35.16

—

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

1.88

0.61

20.5

5.6

—

(3023520) Reticulocytes [#/volume] in Blood

1.88

0.61

1.8

2.5

57.83

69.51

e9/l

—

(3003785) Carcinoembryonic Ag [Mass/volume] in Serum or Plasma

0.00

0.61

0.0

3.7

—

10.67

—

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

1.82

0.61

1.3

1.4

—

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

1.82

0.61

1.3

1.5

—

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

0.00

0.60

0.0

1.4

—

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

1.77

0.59

1.7

1.4

—

(3018010) Neutrophils/100 leukocytes in Blood

201

1.43

0.48

6.5

6.3

52.27

53.53

0.14

195

(3000492) Spirometry study

1.69

0.45

1.6

1.5

—

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

1.50

0.43

2.8

—

(3044640) Blood type and Crossmatch panel - Blood

108

1.43

0.42

2.6

—

(3050129) First trimester maternal screen panel - Serum or Plasma

0.00

0.42

0.0

1.3

—

(3005136) Cladosporium herbarum IgE Ab [Units/volume] in Serum

0.00

0.42

0.0

1.1

—

0.27

—

(21494815) CD4 cells/100 lymphocytes in Specimen

0.00

0.42

0.0

2.4

—

34.62

—

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

0.00

0.42

0.0

1.9

—

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

0.00

0.42

0.0

1.9

—

(3007080) Epstein Barr virus nuclear IgG Ab [Units/volume] in Serum

0.00

0.42

0.0

1.9

—

186.38

—

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

0.00

0.42

0.0

1.3

—

0.25

—

(3028707) Methadone [Presence] in Urine by Screen method

0.00

0.42

0.0

1.1

—

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

0.00

0.42

0.0

1.3

—

1.17

—

(3005322) IgE [Units/volume] in Serum or Plasma

1.53

0.42

1.2

1.1

54.36

131.69

u/ml

—

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

0.00

0.41

0.0

1.2

—

(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay

0.00

0.41

0.0

1.1

—

(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum

0.00

0.41

0.0

1.0

—

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

364

1.63

0.40

26.8

13.7

4.09

3.95

mmol/l

2.01

354

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

361

1.71

0.40

27.9

13.8

139.10

139.62

mmol/l

0.35

351

(3002256) Pathology report gross observation

1.54

0.38

1.5

1.2

—

(3006504) Eosinophils/100 leukocytes in Blood

197

1.35

0.37

7.2

6.5

2.68

3.04

0.31

189

(3002030) Lymphocytes/100 leukocytes in Blood

207

1.35

0.37

6.9

6.4

33.24

31.52

0.24

201

(3027945) Reticulocytes/100 erythrocytes in Blood

1.35

0.34

1.7

3.4

1.50

1.56

—

(3019069) Monocytes/100 leukocytes in Blood

199

1.33

0.34

7.2

6.5

8.54

8.15

0.27

192

(40768804) Tissue Pathology biopsy report

122

1.35

0.33

1.9

2.0

—

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

243

1.29

0.27

10.6

9.5

4.35

3.85

e9/l

0.32

204

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

106

1.32

0.27

1.7

1.4

—

(3013512) EKG study

1.23

0.27

3.1

3.5

—

(3022096) Basophils/100 leukocytes in Blood

194

1.27

0.26

7.3

6.4

0.63

0.70

0.22

185

(3027831) CD3-CD16+CD56+ (Natural killer) cells/100 cells in Blood

0.00

0.21

0.0

2.3

—

8.00

—

(1175426) CD3 cells/100 lymphocytes in Blood

0.00

0.21

0.0

2.2

—

62.00

—

(3000330) Specific gravity of Urine by Test strip

0.00

0.21

0.0

2.1

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

0.21

0.0

1.2

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.5

—

(3000060) B lymphocytes [#/volume] in Blood

0.00

0.21

0.0

2.4

—

356.00

—

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

0.00

0.21

0.0

2.9

—

10.59

—

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

0.00

0.21

0.0

1.1

—

(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma

0.00

0.21

0.0

1.4

—

(40768793) Breast Pathology biopsy report

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

2.0

—

(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum

0.00

0.21

0.0

1.1

—

(46235689) Lupus anticoagulant aPTT, dRVVT and PT screening panel W Reflex

0.00

0.21

0.0

2.0

—

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

0.00

0.21

0.0

1.1

—

(3006245) CD3-CD19+ cells/100 cells in Blood

0.00

0.21

0.0

2.5

—

21.00

—

(3007449) CD3+CD8+ (T8 suppressor) cells/100 cells in Blood

0.00

0.21

0.0

2.4

—

25.70

—

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

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

2.3

—

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

0.00

0.21

0.0

1.5

—

49.56

—

(3028167) CD3+CD4+ (T4 helper) cells [#/volume] in Blood

0.00

0.21

0.0

2.3

—

567.17

—

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

0.00

0.21

0.0

1.3

—

(3014148) Varicella zoster virus Ab [Titer] in Serum

0.00

0.21

0.0

1.2

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.21

0.0

1.2

—

(3014133) Dog dander IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.1

—

3.50

—

(3037522) Nuclear Ab [Titer] in Serum

1.23

0.21

1.3

1.4

—

290.91

—

(3011412) CD3 cells [#/volume] in Blood

0.00

0.20

0.0

1.9

—

1.30

—

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

0.00

0.20

0.0

1.3

—

(3023430) Cat dander IgE Ab [Units/volume] in Serum

0.00

0.20

0.0

1.1

—

10.63

—

(3001405) CD3+CD8+ (T8 suppressor) cells [#/volume] in Blood

0.00

0.20

0.0

1.9

—

605.22

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.20

0.0

1.1

—

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

0.00

0.20

0.0

1.4

—

(3025271) CD3-CD16+CD56+ (Natural killer) cells [#/volume] in Blood

0.00

0.20

0.0

1.9

—

0.19

—

(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum

0.00

0.20

0.0

1.2

—

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

301

0.81

0.20

3.5

3.7

—

(40758558) Short blood count panel - Blood

120

1.24

0.19

7.5

7.3

—

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

1.17

0.17

1.5

1.7

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.73

0.17

1.3

1.7

—

(40761511) CBC panel - Blood by Automated count

384

0.92

0.09

21.3

10.3

—

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

381

1.21

0.09

22.2

12.5

59.46

68.24

umol/l

1.44

381

(3013707) Erythrocyte sedimentation rate by Westergren method

261

0.90

0.06

5.4

4.0

9.96

9.25

mm/h

0.13

244

(3044889) 12 lead EKG panel

215

1.05

0.00

5.1

2.9

—

(43534046) Estradiol (E2) [Moles/volume] in Serum or Plasma by High sensitivity method

0.00

0.0

2.1

—

0.13

—

(3047181) Lactate [Moles/volume] in Blood

0.00

0.0

5.6

—

1.10

—

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

1.02

0.00

1.5

1.4

—

(3011897) Casein IgE Ab [Units/volume] in Serum

0.00

0.0

1.3

—

0.51

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

0.00

0.0

1.0

—

(3033386) Bacteria [Presence] in Cerebral spinal fluid by Light microscopy

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.2

—

(3023419) Bacteria identified in Sputum by Culture

0.00

-0.00

0.0

1.6

—

(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

(3019897) Erythrocyte distribution width [Ratio] by Automated count

0.00

-0.00

0.0

1.4

—

12.80

—

(3018572) Chloride [Moles/volume] in Blood

0.00

-0.00

0.0

5.6

—

105.20

—

(3007798) IgG/Albumin [Mass Ratio] in Cerebral spinal fluid

0.00

-0.00

0.0

1.8

—

(3010375) cycloSPORINE [Mass/volume] in Blood

0.00

-0.00

0.0

55.6

—

164.40

—

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

1.01

-0.00

2.7

2.2

—

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

0.00

-0.00

0.0

1.2

—

(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

(40761872) Peanut recombinant (rAra h) 2 IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.4

—

0.27

—

(40768800) Prostate Pathology biopsy report

0.00

-0.00

0.0

1.4

—

(3015024) Glucose [Moles/volume] in Serum or Plasma --1 hour post dose glucose

0.00

-0.00

0.0

1.6

—

7.54

—

(3036180) Methadone [Presence] in Urine

0.00

-0.00

0.0

1.0

—

(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

(3023081) Carboxyhemoglobin/Hemoglobin.total in Blood

0.00

-0.00

0.0

12.9

—

1.75

—

(37020937) Giardia lamblia DNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(3023709) Somatotropin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

6.4

—

2.71

—

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

0.00

-0.00

0.0

1.2

—

0.42

—

(3008733) Herpes simplex virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

38.80

—

(3024474) Albumin [Mass/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

198.17

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

0.00

-0.00

0.0

6.4

—

194.80

—

(3027231) Wheat IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.4

—

0.27

—

(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

292.13

—

(3046294) Neutrophil cytoplasmic Ab.classic [Titer] in Serum

0.00

-0.00

0.0

1.8

—

(3022914) Cancer Ag 19-9 [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

2.5

—

14.13

—

(3043109) Cytology report of Tissue fine needle aspirate Cyto stain

0.00

-0.00

0.0

1.0

—

(3027901) Hemoglobin [Mass/volume] in Arterial cord blood

0.00

-0.00

0.0

1.0

—

176.83

—

(3007930) Methemoglobin/Hemoglobin.total in Blood

0.00

-0.00

0.0

12.9

—

0.94

—

(3005570) Glucose [Moles/volume] in Urine

0.00

-0.00

0.0

3.0

—

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

0.00

-0.00

0.0

1.5

—

(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

(3039000) Anion gap in Blood

0.00

-0.00

0.0

5.6

—

11.80

—

(40765089) Chromosome analysis panel - Blood by G-banded

0.00

-0.00

0.0

1.0

—

(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay

0.00

-0.00

0.0

1.0

—

87.00

—

(3016244) Insulin [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

5.8

—

18.59

—

(3022493) Free Hemoglobin [Mass/volume] in Plasma

0.00

-0.00

0.0

3.0

—

235.00

—

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

0.00

-0.00

0.0

3.0

—

(36305771) Cryptosporidium sp DNA [Presence] in Stool by NAA with probe detection

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

—

(40759883) Oligoclonal Bands IgG [Presence] in Cerebral spinal fluid by Isoelectric focusing

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(3012494) Peanut IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

1.38

—

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

0.00

-0.00

0.0

1.0

—

(3017895) Helicobacter pylori Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.3

—

(3025130) Human papilloma virus identified in Specimen

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.0

—

1.28

—

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

0.00

-0.00

0.0

1.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint F5_PRORET and mortality.

Females

Parameter	HR [95% CI]	p-value
F5_PRORET	11.864 [6.57, 21.41]	< 0.001
Birth year	0.994 [0.99, 1.0]	0.157

During the follow-up period (1.1.1998 — 31.12.2019), 180 out of 557 females with F5_PRORET died.

Males

Parameter	HR [95% CI]	p-value
F5_PRORET	10.607 [7.03, 15.99]	< 0.001
Birth year	0.984 [0.97, 0.99]	< 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 199 out of 614 males with F5_PRORET died.

Mortality risk

Mortality risk for people of age

years, who have F5_PRORET.

N-year risk	Females	Males
1	1.125%	1.791%
5	6.26%	10.254%
10	15.144%	24.518%
15	27.127%	43.214%
20	43.132%	60.983%

Relationships between endpoints

↥

Index endpoint: F5_PRORET – Profound mental retardation

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

Profound mental retardation

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

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints