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

Maple-syrup-urine disease

Endpoint Browser

E4_MAPLESYRUP

Endpoint definition

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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 — E71.0
  • Hospital discharge: ICD-8 — 27040
  • Cause of death: ICD-10 — E71.0
  • Cause of death: ICD-8 — 27040

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

7

4. Check minimum number of events

None

7

5. Include endpoints

None

7

6. Filter based on genotype QC (FinnGen only)

7

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
E71
Name in latin
Morbus urinae syrupi aceris

Case counts by codes

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FinnGen case counts by registry codes:

Not enough data for upset plot.

Not enough data for upset table.

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 43 19 24
Only index persons 34 16 18
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 - 23.89 41.24
Only index persons 48.28 48.84 47.78

-FinnGen-

Key figures

All Female Male
Number of individuals 7 - 5
Unadjusted period prevalence (%) 0.00 - 0.00
Median age at first event (years) 67.86 - 71.91

-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)

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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

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OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
unit
cases
controls
-log10(p)
N cases
N controls
(40760892) CBC W Ordered Manual Differential panel - Blood
0
11
0.00
0.23
0.0
5.1
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3005785) Creatine kinase.MB [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
4.0
—
6.4
—
0
5
(3022145) Colonoscopy Study observation
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(4010399)
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(36660697) Celiac disease serology panel - Serum
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3013742) Prealbumin [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.6
—
0.2
—
0
5

Mortality – FinRegistry

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Association

Association between endpoint E4_MAPLESYRUP and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_MAPLESYRUP.

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

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Index endpoint: E4_MAPLESYRUP – Maple-syrup-urine disease

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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