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

See these related core endpoints for full statistics:

Disorders of pyruvate metabolism and gluconeogenesis

E4_PYRUGLUNEO

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 E74.4
  • Cause of death: ICD-10 E74.4

2 out of 7 registries used, show all original rules.

6

4. Check minimum number of events

None

6

5. Include endpoints

None

6

6. Filter based on genotype QC (FinnGen only)

6

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
E74
Name in latin
Perturbationes metabolismi pyruvati

Case counts by codes

FinnGen case counts by registry codes:

Not enough data for upset plot.

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 62 34 28
Only index persons 34 19 15
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 - 9.42 7.92
Only index persons 12.96 13.34 12.49

-FinnGen-

Key figures

All Female Male
Number of individuals 6 - -
Unadjusted period prevalence (%) 0.00 - -
Median age at first event (years) 19.89 - -

-FinRegistry-

Age distribution of first events

0102040809005101520253035AgeIndividuals

-FinnGen-

Age distribution of first events

00.00.51.01.52.02.53.03.54.04.55.05.56.0AgeIndividuals

-FinRegistry-

Year distribution of first events

1970197519801985199019952000200520102015202020220246810121416182022242628YearIndividuals

-FinnGen-

Year distribution of first events

1970197519801985199019952000200520230.00.51.01.52.02.53.03.54.04.55.05.56.0YearIndividuals

-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

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
6
36
+∞
1.10
42.0
5.0
3.6
4.0
e9/l
—
6
29
0
14
0.00
0.48
0.0
1.1
—
—
—
0
0
6
49
+∞
0.24
44.8
6.7
52.8
53.9
umol/l
—
6
49
6
49
+∞
0.24
65.2
12.4
339.7
334.9
g/l
—
6
49
6
49
+∞
0.24
66.5
11.2
13.8
13.1
%
—
6
49
6
49
+∞
0.24
13.8
7.8
—
—
—
0
0
0
7
0.00
0.00
0.0
2.6
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
297.7
—
0
7
0
5
0.00
0.00
0.0
14.2
—
22.0
—
0
5

Mortality – FinRegistry

Association

Association between endpoint E4_PYRUGLUNEO and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_PYRUGLUNEO.

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_PYRUGLUNEO – Disorders of pyruvate metabolism and gluconeogenesis

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
FinnGen
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