Disorders of copper metabolism

E4_COPPER_MET

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 — E83.0 Hospital discharge: ICD-9 — 2751 Hospital discharge: ICD-8 — 2733 Cause of death: ICD-10 — E83.0 Cause of death: ICD-9 — 2751 Cause of death: ICD-8 — 2733 2 out of 7 registries used, show all original rules.	41
4. Check minimum number of events None	41
5. Include endpoints None	41
6. Filter based on genotype QC (FinnGen only)	41

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: E83
Name in latin: Perturbationes metabolismi cupri

NAME	E4_COPPER_MET
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	E830
HD_ICD_9	2751
HD_ICD_8	2733
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E830
COD_ICD_9	2751
COD_ICD_8	2733
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 copper 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	324	160	161
Only index persons	251	132	119
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.00	0.00
Median age at first event (years)
Whole population	56.39	61.48	51.22
Only index persons	54.55	59.28	49.30

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	41	16	25
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	46.77	50.48	44.40

-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

(3012544) pH of Venous blood

10.77

11.49

9.3

7.7

—

(3001186) Copper [Moles/volume] in Serum or Plasma

+∞

6.40

7.5

0.0

6.1

—

umol/l

—

(42870588) Differential panel, method unspecified - Blood

106

4.05

4.62

11.6

8.0

—

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

232

5.51

4.32

19.1

7.4

96.7

82.8

u/l

0.67

212

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

119

3.82

4.21

6.3

2.0

87.5

75.6

nmol/l

0.93

107

(3026782) Osmolality of Urine

4.15

4.21

2.8

2.1

639.6

573.7

mosm/kgh2o

0.46

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

10.23

3.94

3.3

55.3

49.0

—

(3022096) Basophils/100 leukocytes in Blood

145

3.52

3.60

13.9

7.9

0.5

0.8

1.55

134

(3006315) Basophils [#/volume] in Blood

166

3.55

3.43

11.9

7.3

0.0

e9/l

0.59

146

(3001604) Monocytes [#/volume] in Blood

166

3.55

3.43

11.9

7.3

0.6

e9/l

0.20

144

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

152

3.27

3.21

16.6

7.2

13.6

11.9

umol/l

0.32

139

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

6.77

3.17

3.9

8.8

126.0

132.9

g/l

—

(3019069) Monocytes/100 leukocytes in Blood

153

3.24

3.16

14.0

7.8

8.4

8.5

0.03

145

(3006504) Eosinophils/100 leukocytes in Blood

153

3.24

3.16

14.0

7.6

2.3

3.0

1.18

141

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

11.12

3.06

2.8

1.4

—

(3023368) Bacteria identified in Blood by Culture

3.22

3.03

4.9

4.8

—

(3034770) Mitochondria Ab [Titer] in Serum

7.57

2.97

2.2

1.6

—

(3007566) Smooth muscle Ab [Titer] in Serum

7.57

2.97

2.2

1.4

—

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

3.03

2.97

14.1

3.3

30.2

u/l

0.00

(3018010) Neutrophils/100 leukocytes in Blood

159

3.04

2.85

12.9

7.2

58.8

55.5

0.82

149

(3002030) Lymphocytes/100 leukocytes in Blood

160

3.01

2.80

14.3

7.6

28.4

29.9

0.25

149

(3019198) Lymphocytes [#/volume] in Blood

170

3.04

2.77

12.4

7.4

2.0

1.9

e9/l

0.36

152

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

170

3.04

2.77

9.5

5.0

6.2

6.5

mmol/l

0.40

157

(40758558) Short blood count panel - Blood

2.95

2.76

7.9

8.8

—

(3000991) Gas panel - Venous blood

4.13

2.67

17.6

4.8

—

(3010130) Cytomegalovirus IgG Ab [Units/volume] in Serum or Plasma

6.92

2.44

1.0

1.7

—

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

6.92

2.44

3.0

2.6

18.3

5.1

u/ml

—

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

6.92

2.44

1.2

2.3

—

(3046279) Procalcitonin [Mass/volume] in Serum or Plasma

6.92

2.44

1.8

2.8

0.4

2.5

ug/l

—

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

187

2.88

2.44

14.0

11.1

4.5

3.7

e9/l

1.04

165

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

6.14

2.28

1.2

1.9

—

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

5.52

2.13

1.2

1.8

—

(3044640) Blood type and Crossmatch panel - Blood

2.52

2.04

2.5

2.4

—

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

2.98

2.01

10.0

4.2

8.9

14.3

umol/l

—

(3003396) Base excess in Arterial blood by calculation

3.61

1.98

8.6

4.1

-0.4

0.2

mmol/l

—

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

3.72

1.82

15.5

9.4

24.7

25.6

mmol/l

—

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

2.31

1.68

2.5

1.6

2.7

2.6

g/l

—

(36304419) Bacteria [Presence] in Urine

2.31

1.63

4.4

2.6

—

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

3.64

1.57

1.2

1.9

—

(3022313) Gas panel - Capillary blood

3.16

1.57

8.2

3.5

—

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

2.21

1.53

2.4

1.5

102.3

99.7

pmol/l

—

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

2.42

1.49

1.5

1.8

—

(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum

3.41

1.48

1.6

1.3

—

(3015736) pH of Urine

103

2.11

1.42

5.3

2.8

—

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

130

2.05

1.38

3.4

3.7

—

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

2.33

1.37

2.2

1.5

714.8

1342.6

nmol/l

—

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

2.51

1.33

2.6

2.4

—

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

2.20

1.30

2.8

1.6

2.7

3.1

mg/l

0.29

(3042936) Bacteria identified in Isolate by Culture

2.32

1.29

1.7

2.1

—

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

2.23

1.26

3.8

2.3

2.6

4.0

e6/l

0.30

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

2.24

1.20

1.5

1.6

—

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

100

1.98

1.20

5.1

3.0

—

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

223

2.03

1.19

6.3

3.5

15.0

pmol/l

0.03

198

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

120

1.89

1.11

7.2

2.3

86.8

103.9

ug/l

0.35

106

(36660697) Celiac disease serology panel - Serum

2.27

1.09

1.6

1.1

—

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

1.95

1.09

3.1

2.1

55.7

58.2

u/l

0.17

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

112

1.88

1.08

4.4

3.3

32.0

71.1

ng/l

0.42

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

1.94

0.98

2.3

2.5

—

(3037467) Urinalysis macro (dipstick) panel - Urine

200

1.82

0.98

5.5

3.3

—

(4035726)

2.17

0.91

1.3

1.4

—

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

2.05

0.73

1.8

2.0

—

(3000494) Fungus identified in Specimen by Culture

1.80

0.73

2.4

1.3

—

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

1.89

0.68

1.6

1.7

—

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

1.72

0.67

1.4

1.6

—

(1761868) Lipid panel - Serum or Plasma

130

0.61

0.66

3.7

2.4

—

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

1.82

0.66

1.8

—

(40768443) Skin Pathology biopsy report

0.00

0.62

0.0

1.2

—

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

1.64

0.60

5.0

2.9

—

(3022217) INR in Platelet poor plasma by Coagulation assay

1.68

0.57

18.0

18.2

—

1.0

—

(3002385) Erythrocyte distribution width [Ratio]

293

1.65

0.56

32.8

14.1

13.5

13.3

0.66

286

(3031040) Bacteria [#/volume] in Urine by Automated count

178

1.51

0.56

4.7

3.6

—

91.4

—

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

329

1.77

0.52

30.8

11.9

22.8

22.7

mg/l

0.01

239

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

1.59

0.50

1.6

1.8

—

(3009542) Hematocrit [Volume Fraction] of Blood

316

1.73

0.49

30.5

11.8

39.3

40.9

0.44

252

(40768797) Stomach Pathology biopsy report

1.64

0.44

1.2

1.3

—

(3012516) Albumin [Mass/volume] in Urine

1.44

0.42

5.8

3.8

25.2

28.4

mg/l

—

(3008898) HLA-B27 [Presence]

0.00

0.41

0.0

1.1

—

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

235

1.29

0.25

3.2

3.7

—

(3007778) Kappa light chains/Lambda light chains [Mass Ratio] in Serum

0.00

0.21

0.0

2.8

—

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

0.00

0.21

0.0

3.9

—

329.0

—

(3016543) Leukocytes [#/volume] in Cerebral spinal fluid

0.00

0.21

0.0

3.8

—

4.1

—

(3027475) Erythrocytes [#/volume] in Cerebral spinal fluid

0.00

0.21

0.0

3.9

—

470.0

—

(3003888) Timothy IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.0

—

27.7

—

(3008401) Mugwort IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.0

—

1.4

—

(3045414) Leukocytes [Presence] in Urine

0.00

0.21

0.0

1.3

—

(3026008) Bacteria identified in Urine by Culture

1.16

0.17

2.1

2.3

—

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

107

0.80

0.15

3.9

4.5

1.9

1.6

ug/l

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.13

0.10

2.0

1.4

—

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

1.06

0.09

2.8

—

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

1.16

0.09

3.0

3.1

—

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

1.10

0.08

2.5

1.6

1.4

mmol/l

—

(3013512) EKG study

1.16

0.07

6.7

2.6

—

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

100

0.87

0.07

1.1

1.3

—

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

110

1.13

0.06

5.6

3.1

—

(3044889) 12 lead EKG panel

208

0.92

0.03

4.8

3.1

—

(40768804) Tissue Pathology biopsy report

116

0.93

0.01

2.5

2.0

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.0

5.1

—

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

0.00

0.0

1.4

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.0

1.6

—

(3014702) Chromogranin A [Moles/volume] in Serum or Plasma

0.00

0.0

3.3

—

3.1

—

(3009340) Metanephrine [Moles/volume] in Serum or Plasma

0.00

0.0

1.7

—

(3012568) Campylobacter sp identified in Specimen by Organism specific culture

0.00

0.0

2.8

—

(3021788) Differential panel - Synovial fluid

0.00

0.0

1.2

—

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

0.00

0.0

1.8

—

(42868716) Shigella species+EIEC invasion plasmid antigen H ipaH gene [Presence] in Stool by NAA with probe detection

0.00

0.0

2.8

—

(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma

0.00

0.0

1.0

—

71.0

—

(3025468) Yersinia sp identified in Specimen by Organism specific culture

0.00

0.0

2.8

—

(3005988) Vibrio sp identified in Specimen by Organism specific culture

0.00

0.0

2.8

—

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

0.00

0.0

1.2

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.5

—

(3049539) Genetic diseases [Identifier] in Blood or Tissue by FISH Nominal

0.00

0.0

1.3

—

(3024522) Salmonella sp identified in Specimen by Organism specific culture

0.00

0.0

2.8

—

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

0.00

0.0

1.8

—

0.4

—

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

0.00

0.0

2.2

—

(40760888) Immunoglobulin light chains.free panel - Serum

0.00

0.0

2.8

—

(21493466) Plesiomonas shigelloides DNA [Presence] in Stool by NAA with non-probe detection

0.00

0.0

2.8

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.03

0.00

4.6

2.6

—

(44813793)

0.00

0.0

1.0

—

(3013180) HIV 1 RNA [Units/volume] (viral load) in Serum or Plasma by Probe with amplification

0.00

0.0

1.8

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

0.0

1.2

—

(3044290) Cell count panel - Cerebral spinal fluid

0.00

0.0

4.2

—

(40758292) HTLV I+II Ab panel - Serum

0.00

0.0

1.7

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.0

—

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

1.03

0.00

1.9

2.5

—

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

0.00

0.0

1.8

—

(21494815) CD4 cells/100 lymphocytes in Specimen

0.00

0.0

7.8

—

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

0.00

0.0

1.0

—

(3022058) Hepatitis B virus DNA [Presence] in Serum or Plasma by NAA with probe detection

0.00

0.0

1.6

—

(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.3

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

0.00

0.0

1.0

—

(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain

0.00

0.0

1.0

—

(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.4

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

0.0

1.6

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.0

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.04

0.00

14.0

5.1

—

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

0.00

0.0

1.2

—

(1175426) CD3 cells/100 lymphocytes in Blood

0.00

0.0

7.8

—

79.2

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

0.0

1.4

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_COPPER_MET and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_COPPER_MET.

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_COPPER_MET – Disorders of copper 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 copper 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