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

See these related core endpoints for full statistics:

E4_AMINO

Disorders of ornithine metabolism

Endpoint Browser

E4_ORNITHINE

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 — E72.4 Cause of death: ICD-10 — E72.4 2 out of 7 registries used, show all original rules.	13
4. Check minimum number of events None	13
5. Include endpoints None	13
6. Filter based on genotype QC (FinnGen only)	13

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 metabolismi ornithini

NAME	E4_ORNITHINE
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	E724
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E724
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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
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 ornithine 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	135	64	71
Only index persons	110	57	53
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	-	19.27	8.61
Only index persons	18.62	20.64	16.45

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	13	9	-
Unadjusted period prevalence (%)	0.00	0.00	-
Median age at first event (years)	16.88	19.85	-

-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

(3013336) Amino acids [Identifier] in Serum or Plasma

+∞

9.44

7.8

0.0

—

(3013742) Prealbumin [Mass/volume] in Serum or Plasma

23.14

5.45

3.4

3.8

0.2

g/l

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

4.13

1.64

27.0

8.5

1.2

mmol/l

—

(3023024) Carbon dioxide [Partial pressure] in Capillary blood

4.39

1.61

5.0

7.2

5.1

4.9

kpa

—

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

4.39

1.61

4.8

5.8

23.1

24.2

mmol/l

—

(3022313) Gas panel - Capillary blood

4.39

1.61

4.4

5.2

—

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

0.37

1.00

3.9

4.2

—

(40760892) CBC W Ordered Manual Differential panel - Blood

0.00

0.90

0.0

5.4

—

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

0.00

0.66

0.0

1.5

—

(42870588) Differential panel, method unspecified - Blood

2.27

0.65

20.1

5.6

—

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

0.00

0.44

0.0

1.6

—

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

0.00

0.44

0.0

1.2

—

22.2

—

(3042936) Bacteria identified in Isolate by Culture

0.00

0.44

0.0

1.6

—

(3036481) Cortisol [Moles/volume] in Serum or Plasma

0.00

0.44

0.0

3.7

—

282.1

—

(3013707) Erythrocyte sedimentation rate by Westergren method

0.67

0.25

2.8

3.0

12.3

7.7

mm/h

—

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

0.67

0.24

5.8

4.5

—

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

1.46

0.24

11.4

4.4

139.1

93.4

u/l

—

(40768797) Stomach Pathology biopsy report

0.00

0.22

0.0

1.4

—

(3000494) Fungus identified in Specimen by Culture

0.00

0.22

0.0

1.2

—

(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal

0.00

0.22

0.0

1.1

—

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

0.00

0.22

0.0

1.5

—

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

0.00

0.22

0.0

1.3

—

1.2

—

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

0.00

0.22

0.0

1.6

—

(3037467) Urinalysis macro (dipstick) panel - Urine

0.83

0.11

8.3

4.4

—

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

0.00

0.0

1.2

—

(3041008) Bicarbonate [Moles/volume] standard in Arterial cord blood

0.00

0.0

1.0

—

19.0

—

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

0.00

0.0

1.2

—

(3006598) pH of Arterial cord blood

0.00

0.0

1.0

—

(3022145) Colonoscopy Study observation

0.00

0.0

1.3

—

(3003932) Carbon dioxide [Partial pressure] in Arterial cord blood

0.00

0.0

1.0

—

6.3

—

(40761536) Microorganisms panel - Urine sediment

0.00

0.0

10.3

—

(3035637) Corticotropin [Mass/volume] in Plasma

0.00

0.0

2.0

—

(3004716) Salmonella sp identified in Stool by Organism specific culture

0.00

0.0

1.5

—

(3021706) Oxygen [Partial pressure] in Arterial cord blood

0.00

0.0

1.0

—

4.1

—

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

1.17

0.00

2.9

2.5

14.1

40.7

u/l

—

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

0.00

0.0

1.3

—

(3020961) Endomysium IgA Ab [Titer] in Serum

0.00

0.0

1.7

—

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

0.00

0.0

1.6

—

(42870560) Thyrotropin [Units/volume] in Cord blood

0.00

0.0

1.0

—

8.6

—

(3001019) Free T4 and TSH panel - Serum or Plasma

0.00

0.0

1.0

—

(3008898) HLA-B27 [Presence]

0.00

0.0

1.1

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

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

0.83

0.00

17.2

3.6

5.8

6.3

mmol/l

—

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

0.00

0.0

1.4

—

(3002256) Pathology report gross observation

0.00

0.0

1.4

—

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

0.00

0.0

1.5

—

(1002224) Polysomnography panel

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

(3021589) Normoblasts [#/volume] in Blood

0.83

0.00

26.2

8.7

0.0

e9/l

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_ORNITHINE and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_ORNITHINE.

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_ORNITHINE – Disorders of ornithine 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 ornithine 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