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

Mucopolysaccharidosis, other/unspecified

E4_MUCOPOLYNAS

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 E76.2, E76.3
  • Hospital discharge: ICD-9 2775
  • Cause of death: ICD-10 E76.2, E76.3
  • Cause of death: ICD-9 2775

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

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 184 91 91
Only index persons 117 56 61
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 11.54 11.99 9.93
Only index persons 8.66 9.41 7.97

-FinnGen-

Key figures

All Female Male
Number of individuals 6 - -
Unadjusted period prevalence (%) 0.00 - -
Median age at first event (years) 12.40 - -

-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

Mortality – FinRegistry

Association

Association between endpoint E4_MUCOPOLYNAS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_MUCOPOLYNAS.

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_MUCOPOLYNAS – Mucopolysaccharidosis, other/unspecified

GWS hits: -

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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