This is a non-core endpoint: only basic statistics are computed.

See these related core endpoints for full statistics:

E4_AROMAMINO

Disorders of aromatic amino-acid metabolism, other/unspecified

DOID Endpoint Browser

E4_AROMAMINONAS

No definition available.

Suggest a new description

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 — E70.8, E70.9 Hospital discharge: ICD-9 — 2702 Hospital discharge: excluded ICD-9 — 2702A Cause of death: ICD-10 — E70.8, E70.9 Cause of death: ICD-9 — 2702 Cause of death: excluded ICD-9 — 2702A 2 out of 7 registries used, show all original rules.	22
4. Check minimum number of events None	22
5. Include endpoints None	22
6. Filter based on genotype QC (FinnGen only)	22

Control definitions (FinnGen only)

Control exclude: E4_METABOLIA

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2

NAME	E4_AROMAMINONAS
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	E70[8-9]
HD_ICD_9	2702
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	2702A
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E70[8-9]
COD_ICD_9	2702
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	2702A
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 aromatic amino-acid metabolism, other/unspecified 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	227	111	116
Only index persons	189	92	97
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	-	68.45	60.81
Only index persons	63.74	67.30	60.37

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	22	11	11
Unadjusted period prevalence (%)	0.00	0.00	0.00
Median age at first event (years)	60.83	60.06	61.61

-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

unit

cases

controls

-log₁₀(p)

N cases

N controls

(42870588) Differential panel, method unspecified - Blood

3.89

2.38

6.5

6.4

—

(3013512) EKG study

2.92

1.58

5.9

3.2

—

(3042936) Bacteria identified in Isolate by Culture

2.77

1.15

1.6

1.3

—

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

2.32

1.03

3.8

7.7

mmol/l

1.2

—

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

1.97

0.86

3.2

4.0

—

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

0.00

0.84

0.0

4.0

—

415.9

—

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

2.19

0.76

1.0

1.3

—

23.8

—

(3002256) Pathology report gross observation

0.00

0.64

0.0

1.1

—

(40758558) Short blood count panel - Blood

1.68

0.41

8.0

6.9

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.59

0.40

2.2

4.1

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.36

0.25

11.6

7.1

—

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

1.34

0.23

3.2

2.3

u/l

34.5

25.8

—

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

0.00

0.22

0.0

1.5

—

(3016417) Amylase.pancreatic [Enzymatic activity/volume] in Serum or Plasma

0.00

0.22

0.0

2.1

—

22.4

—

(36660697) Celiac disease serology panel - Serum

0.00

0.22

0.0

1.3

—

(3027238) Thyroperoxidase Ab [Units/volume] in Serum or Plasma

0.00

0.21

0.0

1.2

—

39.6

—

(40768804) Tissue Pathology biopsy report

1.30

0.21

1.1

2.0

—

(3037467) Urinalysis macro (dipstick) panel - Urine

105

1.31

0.16

4.3

4.2

—

(3026008) Bacteria identified in Urine by Culture

1.21

0.10

1.8

2.6

—

(1761868) Lipid panel - Serum or Plasma

1.18

0.10

4.0

2.6

—

(3015736) pH of Urine

1.12

0.10

3.8

4.1

—

(40761511) CBC panel - Blood by Automated count

164

0.91

0.10

21.3

11.0

—

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

1.10

0.10

2.0

3.7

—

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

161

1.24

0.10

17.4

15.1

mmol/l

139.6

139.9

0.23

156

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

162

1.22

0.09

16.9

15.2

mmol/l

4.0

0.02

157

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

0.80

0.09

4.5

4.1

—

(3044889) 12 lead EKG panel

105

1.10

0.00

2.6

3.5

—

(40768443) Skin Pathology biopsy report

0.00

0.0

1.4

—

(3045414) Leukocytes [Presence] in Urine

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

(3044640) Blood type and Crossmatch panel - Blood

1.05

0.00

1.8

2.1

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.0

—

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

167

1.08

0.00

15.8

14.6

umol/l

79.5

77.9

0.13

167

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

0.00

0.0

1.6

—

7.3

—

(3009214) Lutropin [Units/volume] in Serum or Plasma

0.00

0.0

1.4

—

1.8

—

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

1.00

0.00

3.7

3.2

—

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

0.00

0.0

1.0

—

201.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.6

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.6

—

1.6

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

0.0

1.8

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.4

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.0

1.2

—

(3006184) Hemoglobin [Mass/volume] in Capillary blood

0.00

0.0

1.0

—

134.6

—

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

0.00

-0.00

0.0

1.8

—

(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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

45.2

—

(3021387) Prolactin [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

1.1

—

298.1

—

(1002224) Polysomnography panel

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.5

—

52.0

—

(3008898) HLA-B27 [Presence]

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_AROMAMINONAS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_AROMAMINONAS.

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_AROMAMINONAS – Disorders of aromatic amino-acid metabolism, other/unspecified

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 aromatic amino-acid metabolism, other/unspecified

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