Disorders of tyrosine metabolism

E4_TYROSINE

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 — E70.2 Hospital discharge: ICD-9 — 2702A Hospital discharge: ICD-8 — 27060 Cause of death: ICD-10 — E70.2 Cause of death: ICD-9 — 2702A Cause of death: ICD-8 — 27060 2 out of 7 registries used, show all original rules.	43
4. Check minimum number of events None	43
5. Include endpoints None	43
6. Filter based on genotype QC (FinnGen only)	43

Control definitions (FinnGen only)

Control exclude: E4_METABOLIA

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: E70
Name in latin: Perturbationes metabolismi tyrosini

NAME	E4_TYROSINE
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E702
HD_ICD_9	2702A
HD_ICD_8	27060
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E702
COD_ICD_9	2702A
COD_ICD_8	27060
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 Disorders of tyrosine metabolism 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	338	138	196
Only index persons	237	92	145
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.01
Only index persons	0.00	0.00	0.01
Median age at first event (years)
Whole population	69.87	72.66	68.03
Only index persons	68.41	72.05	66.11

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	43	14	29
Unadjusted period prevalence (%)	0.01	0.00	0.01
Median age at first event (years)	68.11	70.04	67.18

-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

(3030366) Cystatin C [Mass/volume] in Serum or Plasma

9.13

4.62

7.3

9.2

1.5

1.4

mg/l

—

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

11.33

3.61

3.8

4.8

0.3

u/ml

—

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

9.21

2.82

5.0

1.8

—

(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood

4.43

2.61

8.0

3.4

1.2

mmol/l

—

(3021901) Oxygen saturation in Capillary blood

5.49

2.13

2.6

2.5

—

(3042936) Bacteria identified in Isolate by Culture

3.04

2.09

3.1

1.6

—

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

2.88

1.92

5.4

1.8

2.1

2.3

g/l

—

(40761536) Microorganisms panel - Urine sediment

3.43

1.89

9.7

2.8

—

(3000991) Gas panel - Venous blood

3.28

1.81

5.3

9.3

—

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

3.89

1.66

1.2

1.3

—

(3022313) Gas panel - Capillary blood

3.89

1.66

4.4

8.6

—

(42870588) Differential panel, method unspecified - Blood

2.24

1.56

5.2

5.0

—

(3026782) Osmolality of Urine

2.39

1.48

8.0

2.4

550.1

566.8

mosm/kgh2o

0.15

(3026493) Urate [Moles/volume] in Serum or Plasma

2.25

1.39

4.4

2.9

381.8

12900.7

umol/l

0.77

(3007853) Bacteria identified in Skin by Aerobe culture

2.51

1.23

5.7

1.7

—

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

280

0.56

1.00

44.0

15.9

118.5

82.9

umol/l

1.66

280

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

0.00

0.99

0.0

10.3

—

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

2.11

0.95

2.1

1.6

—

(3015736) pH of Urine

109

1.75

0.87

3.7

4.1

—

(3002256) Pathology report gross observation

2.01

0.85

1.0

1.4

—

(36660697) Celiac disease serology panel - Serum

0.00

0.82

0.0

1.2

—

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

111

1.70

0.81

6.6

2.8

—

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

130

1.66

0.79

12.3

5.8

1.2

mmol/l

0.17

110

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

130

1.66

0.79

8.8

5.9

8.6

12.7

umol/l

2.07

121

(3041096) Erythrocytes [Presence] in Urine by Automated

1.77

0.79

6.0

3.2

—

(3026008) Bacteria identified in Urine by Culture

1.77

0.79

2.3

3.0

—

(3001122) Ferritin [Mass/volume] in Serum or Plasma

103

1.70

0.79

7.4

2.6

265.9

163.7

ug/l

0.37

(3032080) INR in Blood by Coagulation assay

112

1.68

0.78

9.8

8.3

1.1

1.2

inr

—

(3000850) Epithelial cells [#/volume] in Urine

1.70

0.76

9.3

2.3

2.4

4.6

e6/l

—

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

2.13

0.75

17.0

3.9

—

(40761511) CBC panel - Blood by Automated count

279

0.62

0.73

43.2

12.9

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.80

0.73

5.4

4.5

—

(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma

1.66

0.70

3.9

3.3

4924.1

1795.4

ng/l

0.67

(3009542) Hematocrit [Volume Fraction] of Blood

239

0.63

0.69

22.2

14.6

34.9

40.3

0.70

168

(3023368) Bacteria identified in Blood by Culture

1.64

0.63

8.4

4.0

—

(3044889) 12 lead EKG panel

185

0.64

0.61

8.9

4.1

—

(3000494) Fungus identified in Specimen by Culture

1.83

0.61

1.7

1.6

—

(3013512) EKG study

1.60

0.55

6.5

3.6

—

(36304419) Bacteria [Presence] in Urine

1.61

0.52

8.9

2.2

—

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

1.58

0.52

3.4

1.9

310.7

236.3

u/l

0.17

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

1.52

0.46

2.6

2.3

—

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

1.69

0.45

1.2

1.5

—

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

1.44

0.44

1.9

2.5

1.2

1.6

mg/l

—

(3022621) pH of Urine by Test strip

0.00

0.42

0.0

2.3

—

(3044640) Blood type and Crossmatch panel - Blood

1.37

0.27

2.9

2.5

—

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

1.34

0.26

6.9

4.1

0.0

estimate

—

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

233

0.81

0.21

35.4

13.3

62.5

75.6

ml/min/173m2

1.15

184

(1002224) Polysomnography panel

0.00

0.21

0.0

1.1

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.21

0.0

2.4

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.21

0.0

1.0

—

(40766189) Gliadin peptide IgG Ab [Units/volume] in Serum by Immunoassay

0.00

0.21

0.0

1.2

—

(3025941) Bacteria identified in Stool by Culture

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

10.2

—

(3023939) Sjogrens syndrome-A extractable nuclear Ab [Units/volume] in Serum

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

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

1.25

0.19

2.0

1.4

1.9

3.2

g/l

—

(3037467) Urinalysis macro (dipstick) panel - Urine

179

1.22

0.19

7.7

4.7

—

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

140

1.23

0.18

5.7

3.8

0.0

estimate

—

(40758558) Short blood count panel - Blood

0.74

0.18

5.2

6.0

—

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

0.70

0.18

3.6

4.2

—

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

143

1.19

0.14

6.6

4.9

0.0

estimate

—

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

145

1.16

0.11

5.7

3.8

0.0

estimate

—

(3013707) Erythrocyte sedimentation rate by Westergren method

195

0.87

0.11

5.9

4.3

25.4

12.6

mm/h

1.02

174

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

117

1.16

0.09

12.1

3.7

—

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

0.80

0.09

1.6

1.3

—

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

153

0.87

0.09

3.7

2.7

—

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

118

1.15

0.08

6.6

4.0

—

(1761868) Lipid panel - Serum or Plasma

0.88

0.07

4.4

2.6

—

(40768804) Tissue Pathology biopsy report

101

0.99

0.00

1.7

2.2

—

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

0.00

0.0

2.6

—

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

0.00

0.0

1.3

—

(4268621)

0.00

0.0

1.8

—

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

0.00

0.0

1.0

—

(44790047)

0.00

0.0

1.0

—

(44790049)

0.00

0.0

1.0

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(40760847) Basement membrane Ab [Titer] in Serum by Immunofluorescence

0.00

0.0

1.2

—

(4094501)

0.00

0.0

1.1

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

0.0

2.0

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.0

1.6

—

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

0.00

0.0

1.2

—

(3036428) Adenosine deaminase [Enzymatic activity/volume] in Pleural fluid

0.00

0.0

1.4

—

12.4

—

(3024928) Oxygen saturation in Venous blood

0.00

0.0

3.6

—

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

0.00

0.0

1.6

—

(3019150) Specific gravity of Urine by Refractometry

0.86

0.00

3.2

4.6

—

1.0

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.2

—

(3035285) Chloride [Moles/volume] in Venous blood

0.00

0.0

3.3

—

108.8

—

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

0.00

0.0

1.4

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.3

—

(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count

0.00

0.0

2.0

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.3

—

(3026389) Candida sp identified in Specimen by Organism specific culture

0.00

0.0

1.2

—

(3027544) Mycobacterium sp identified in Sputum by Organism specific culture

0.00

0.0

2.4

—

(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

0.0

—

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

0.00

0.0

1.4

—

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

(3044290) Cell count panel - Cerebral spinal fluid

0.00

0.0

1.0

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3052851) Hemolysis interference index of Serum or Plasma

0.00

0.0

3.2

—

(44806118)

0.00

0.0

1.0

—

(3008898) HLA-B27 [Presence]

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(3019473) Protein [Mass/volume] in Cerebral spinal fluid

0.00

0.0

1.1

—

361.6

—

(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.2

—

(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.4

—

(3041354) Potassium [Moles/volume] in Venous blood

0.00

0.0

3.3

—

4.1

—

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

0.00

0.0

1.2

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

0.00

0.0

1.0

—

(3020044) Glucose [Moles/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

4.0

—

(3033705) Calcium.ionized [Moles/volume] in Venous blood

0.00

0.0

3.3

—

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

0.00

0.0

1.0

—

(44790048)

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_TYROSINE and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_TYROSINE.

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: E4_TYROSINE – Disorders of tyrosine metabolism

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

Disorders of tyrosine metabolism

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