Other disorders of carbohydrate metabolism

E4_CARBO

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

None

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

0

4. Check minimum number of events

None

0

5. Include endpoints

172

6. Filter based on genotype QC (FinnGen only)

172

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2

Similar endpoints

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 1407 651 742
Only index persons 1083 514 569
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 27.79 35.37 20.72
Only index persons 26.10 32.40 20.41

-FinnGen-

Key figures

All Female Male
Number of individuals 172 81 91
Unadjusted period prevalence (%) 0.03 0.03 0.04
Median age at first event (years) 24.99 29.17 21.27

-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

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
162
Matched controls
1621
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
27188
ICD-8 Finland
Congenital disorders of carbohydrate metabolism, Alii definiti
+∞
78.7
69
*
E74.0
ICD-10 Finland
Glycogen storage disease
+∞
17.0
16
*
27199
ICD-8 Finland
Congenital disorders of carbohydrate metabolism, Unspecified
+∞
12.7
12
*
E74.1
ICD-10 Finland
Disorders of fructose metabolism
+∞
11.6
11
*
2714A
ICD-9 Finland
Disorders of carbohydrate transport and metabolism, Renal glycosuria
+∞
7.3
7
*
2712A
ICD-9 Finland
Disorders of carbohydrate transport and metabolism, Hereditary fructose intolerance
+∞
7.3
7
*
E74.89
ICD-10 Finland
Other specified disorders of carbohydrate metabolism
+∞
7.3
7
*
Y0599
ICD-8 Finland
Investigation of digestive system
11.7
6.4
11
10
E74.4
ICD-10 Finland
Disorders of pyruvate metabolism and gluconeogenesis
+∞
6.3
6
*
503
Kela drug reimbursment
Inborn metabolic disorders
+∞
6.3
6
*

Mortality – FinRegistry

Association

Association between endpoint E4_CARBO and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_CARBO.

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_CARBO – Other disorders of carbohydrate metabolism

GWS hits: 1

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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