Disorders of amino-acid transport

E4_AMINOTRANSPORT

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 — E72.0 Hospital discharge: ICD-9 — 2700 Hospital discharge: ICD-8 — 270[1-3] Cause of death: ICD-10 — E72.0 Cause of death: ICD-9 — 2700 Cause of death: ICD-8 — 270[1-3] 2 out of 7 registries used, show all original rules.	62
4. Check minimum number of events None	62
5. Include endpoints None	62
6. Filter based on genotype QC (FinnGen only)	62

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: E72
Name in latin: Perturbationes transportationis acidorum aminoicorum

NAME	E4_AMINOTRANSPORT
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	E720
HD_ICD_9	2700
HD_ICD_8	270[1-3]
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E720
COD_ICD_9	2700
COD_ICD_8	270[1-3]
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 amino-acid transport 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	504	254	247
Only index persons	411	212	199
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	46.24	47.45	44.84
Only index persons	47.91	49.69	46.01

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	62	26	36
Unadjusted period prevalence (%)	0.01	0.01	0.02
Median age at first event (years)	51.50	40.60	59.38

-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

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
56: Matched controls
561

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

E72.0

ICD-10 Finland

Disorders of amino-acid transport

+∞

54.2

E78.00

ICD-10 Finland

Familial hypercholesterolaemia

119.4

9.7

E78.5

ICD-10 Finland

Hyperlipidaemia, unspecified

26.8

8.4

E78.01

ICD-10 Finland

Pure hypercholesterolaemia

9.4

6.9

C10AA01

ATC

simvastatin; oral

4.6

6.8

140

N16.3*E72.0

ICD-10 Finland

Renal tubulo-interstitial disorders in cystinosis

+∞

6.4

2700A

ICD-9 Finland

Disorders of amino-acid transport and metabolism, Disturbances of amino-acid transport[CYSTINURIA]

+∞

6.4

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3009508) Creatinine [Moles/volume] in Urine

128

4.98

9.10

6.6

2.6

6.4

8.0

mmol/l

1.57

103

(3012516) Albumin [Mass/volume] in Urine

118

4.84

8.77

6.5

2.9

64.8

61.7

mg/l

0.03

(3020682) Albumin/Creatinine [Ratio] in Urine

124

4.55

8.09

8.1

3.5

11.5

9.3

mg/mmol

0.13

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

3.61

5.22

4.8

3.9

—

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

4.99

4.26

7.2

3.6

26.4

24.9

mmol/l

—

(3018418) pH of Serum or Plasma

128

2.97

4.10

14.1

3.0

7.4

—

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

171

2.80

3.84

3.1

1.7

92.7

99.7

pmol/l

0.38

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

157

2.76

3.72

8.8

2.9

—

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

3.31

3.66

7.1

1.4

17.7

23.0

0.78

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

218

2.73

3.61

23.2

4.4

1.2

mmol/l

0.58

190

(3000991) Gas panel - Venous blood

3.84

3.37

12.0

5.0

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

6.41

3.11

2.9

2.5

—

(3022313) Gas panel - Capillary blood

5.23

3.03

6.5

1.8

—

(1616796) Gas panel - Central venous blood

10.71

3.03

5.4

1.8

—

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

2.76

2.96

1.8

1.6

3.2

3.5

g/l

0.12

(36304419) Bacteria [Presence] in Urine

116

2.56

2.96

7.9

2.6

—

(3037467) Urinalysis macro (dipstick) panel - Urine

300

2.41

2.59

10.3

4.0

—

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

2.83

2.59

6.6

7.3

—

(3015736) pH of Urine

157

2.27

2.47

6.5

3.4

—

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

127

2.29

2.36

6.4

1.9

345.0

3643.5

umol/l

0.50

106

(3042936) Bacteria identified in Isolate by Culture

2.59

2.34

1.9

2.0

—

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

2.55

2.27

5.8

2.5

1.6

2.2

e6/l

—

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

4.31

2.09

1.0

—

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

2.39

2.01

5.6

2.4

0.2

0.8

e6/l

—

(3027315) Oxygen [Partial pressure] in Blood

4.84

1.98

7.4

1.6

9.1

7.9

kpa

—

(3013290) Carbon dioxide [Partial pressure] in Blood

4.84

1.98

7.4

1.6

4.9

5.0

kpa

—

(3023368) Bacteria identified in Blood by Culture

129

2.09

1.90

5.2

4.4

—

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

2.22

1.88

1.5

1.3

0.9

0.8

u/ml

—

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

2.22

1.88

1.8

1.5

7.7

0.7

mg/l

0.48

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

2.72

1.66

1.8

1.4

—

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

135

1.98

1.65

2.1

2.8

2417.4

1612.5

ng/l

0.29

107

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

214

1.90

1.65

9.6

4.3

0.0

estimate

—

(40761535) Cells panel - Urine sediment

2.63

1.60

4.4

3.5

—

(3027801) Oxygen [Partial pressure] in Arterial blood

2.36

1.55

9.8

4.7

11.8

11.2

kpa

0.11

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

218

1.84

1.53

8.1

3.4

0.0

estimate

—

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

2.53

1.50

1.3

1.7

—

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

2.20

1.44

2.0

1.7

—

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

222

1.79

1.41

8.1

3.4

0.0

estimate

—

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

2.33

1.41

2.3

1.5

—

(3020961) Endomysium IgA Ab [Titer] in Serum

2.78

1.40

1.0

1.1

—

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

2.78

1.40

5.3

2.1

63.9

46.6

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

2.16

1.39

2.7

1.5

27.2

29.6

1.21

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

2.27

1.37

2.2

1.5

—

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

2.93

1.31

16.0

7.7

—

(40768443) Skin Pathology biopsy report

2.93

1.31

1.0

1.1

—

(3016502) Oxygen saturation in Arterial blood

2.24

1.30

10.7

4.8

95.4

94.4

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.13

1.26

1.9

—

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

1.97

1.26

4.6

2.5

674.3

343.1

ng/l

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

2.77

1.24

2.8

1.8

0.7

0.8

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

2.63

1.17

2.8

1.7

0.8

1.9

—

(3008152) Bicarbonate [Moles/volume] in Arterial blood

2.41

1.14

12.0

5.6

24.2

24.9

mmol/l

—

(3022217) INR in Platelet poor plasma by Coagulation assay

2.01

1.11

19.3

14.4

—

1.1

—

(40758558) Short blood count panel - Blood

109

1.77

1.08

6.4

6.8

—

(3014007) Fractional oxyhemoglobin in Arterial blood

2.19

1.07

10.7

4.9

93.7

93.9

—

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

2.02

1.06

3.6

4.0

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

2.12

1.04

10.7

4.1

1.7

1.6

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

2.06

1.00

10.7

4.8

0.6

0.7

—

(3020891) Body temperature

2.26

0.94

6.8

2.7

—

(3025941) Bacteria identified in Stool by Culture

2.26

0.94

1.5

1.3

—

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

447

1.79

0.93

20.7

12.4

81.6

81.4

ml/min/173m2

0.02

360

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

114

1.68

0.92

3.4

2.0

—

(3019225) pH of Specimen

1.94

0.90

12.9

3.1

—

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

1.94

0.90

4.0

1.4

—

(3032080) INR in Blood by Coagulation assay

187

1.56

0.88

10.0

8.6

1.3

1.2

inr

—

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

334

1.56

0.85

4.4

3.7

14.8

14.9

pmol/l

0.09

303

(3019060) Gas panel - Arterial blood

1.97

0.84

9.5

3.2

—

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

419

1.64

0.83

5.1

4.3

2.1

1.9

mu/l

0.78

374

(3026008) Bacteria identified in Urine by Culture

126

1.60

0.82

5.0

2.6

—

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

1.90

0.81

1.3

1.4

—

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

136

1.57

0.79

9.7

3.9

0.0

estimate

—

(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

2.08

0.74

1.4

—

(3018405) Lactate [Moles/volume] in Arterial blood

2.08

0.74

5.4

2.5

1.2

1.3

mmol/l

—

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

1.64

0.74

3.8

1.4

—

(42870588) Differential panel, method unspecified - Blood

149

1.51

0.69

8.4

4.5

—

(3028026) IgM [Mass/volume] in Serum or Plasma

1.85

0.67

3.0

1.3

0.8

1.3

g/l

—

(40761536) Microorganisms panel - Urine sediment

1.66

0.67

12.6

2.7

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.79

0.65

4.2

1.9

—

(1761868) Lipid panel - Serum or Plasma

169

0.64

0.63

4.8

2.6

—

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

1.72

0.63

5.0

3.4

0.2

e6/l

—

(3013707) Erythrocyte sedimentation rate by Westergren method

348

1.42

0.59

7.4

3.7

19.8

12.6

mm/h

0.97

326

(3000494) Fungus identified in Specimen by Culture

1.58

0.58

1.7

1.3

—

(3013512) EKG study

137

1.44

0.56

3.6

3.1

—

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

193

1.40

0.55

2.6

3.4

105.4

59.1

ng/l

0.26

137

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

188

1.36

0.47

8.7

3.5

—

(40768793) Breast Pathology biopsy report

0.00

0.42

0.0

1.3

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.42

0.0

1.5

—

(3051387) C reactive protein [Mass/volume] in Capillary blood

0.00

0.41

0.0

6.4

—

29.4

—

(3008898) HLA-B27 [Presence]

0.00

0.41

0.0

1.1

—

(40768797) Stomach Pathology biopsy report

1.31

0.27

1.1

1.2

—

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

484

1.30

0.26

28.2

13.0

24.9

24.1

mg/l

0.07

373

(3017732) Neutrophils [#/volume] in Blood

1.31

0.23

3.0

2.6

4.4

3.3

e9/l

—

(3044640) Blood type and Crossmatch panel - Blood

155

1.23

0.23

3.4

2.1

—

(40760892) CBC W Ordered Manual Differential panel - Blood

108

1.26

0.22

11.8

4.8

—

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

0.00

0.21

0.0

1.1

—

(40768800) Prostate Pathology biopsy report

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.1

—

(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

2.0

—

6.4

—

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

0.00

0.21

0.0

3.8

—

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

195

1.20

0.21

4.2

4.5

1.0

2.4

ug/l

3.80

171

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

0.00

0.21

0.0

1.2

—

(3022145) Colonoscopy Study observation

1.21

0.19

1.0

1.2

—

(3044889) 12 lead EKG panel

329

1.15

0.15

6.1

3.8

—

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

291

0.87

0.15

3.6

2.8

—

(3041096) Erythrocytes [Presence] in Urine by Automated

136

0.85

0.12

11.8

2.8

—

(3000492) Spirometry study

1.15

0.10

2.0

1.4

—

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

225

1.11

0.09

5.9

3.8

—

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

0.78

0.08

1.6

1.5

—

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

1.11

0.08

4.1

1.6

—

(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma

508

1.15

0.08

18.3

9.6

26.1

27.1

u/l

0.21

492

(40761511) CBC panel - Blood by Automated count

498

1.14

0.07

26.9

12.3

—

(3002385) Erythrocyte distribution width [Ratio]

381

1.06

0.03

38.7

15.7

14.2

13.8

0.74

373

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

501

0.99

0.00

33.6

15.3

87.9

78.3

umol/l

0.82

501

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

125

1.05

0.00

1.6

1.3

—

(40768804) Tissue Pathology biopsy report

204

0.97

0.00

2.4

1.9

—

(3009542) Hematocrit [Volume Fraction] of Blood

416

1.03

0.00

33.7

12.9

38.1

40.4

1.41

290

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

0.00

0.0

1.4

—

13.6

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.2

—

(4281824)

0.00

0.0

1.0

—

(4062490)

0.00

0.0

1.2

—

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

0.00

0.0

2.4

—

105.8

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.0

1.1

—

(3043453) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.7

—

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

0.00

0.0

2.4

—

4.2

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.8

—

1.9

—

(3022756) Ceruloplasmin [Mass/volume] in Serum or Plasma

0.00

0.0

1.0

—

315.2

—

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

0.00

0.0

1.2

—

(3007821) Glucose [Moles/volume] in Serum or Plasma --baseline

0.00

0.0

1.0

—

10.1

—

(4268621)

0.00

0.0

1.6

—

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

0.00

0.0

1.2

—

(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain

0.00

0.0

1.4

—

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

0.95

0.00

1.3

—

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

0.00

0.0

2.4

—

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

0.00

0.0

1.1

—

(3044941) Cell count panel - Synovial fluid

0.00

0.0

1.8

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.0

—

(4027681)

0.00

0.0

1.2

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_AMINOTRANSPORT and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_AMINOTRANSPORT.

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_AMINOTRANSPORT – Disorders of amino-acid transport

GWS hits: 1

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 amino-acid transport

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