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Other and unspecified spinal muscular atrophies

DOID EFO Endpoint Browser PheWeb

G6_SPINAMUSCOTH

spinal muscular atrophy: Spinal muscular atrophy is a disorder of spinal motor neurons characterized clinically by the development of muscle weakness and atrophy.

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — G12.8, G12.9, G13*
  • Hospital discharge: ICD-9 — 335
  • Hospital discharge: ICD-8 — 34829|3489
  • Hospital discharge: excluded ICD-9 — 3350A|3351A|3352A
  • Cause of death: ICD-10 — G12.8, G12.9, G13*
  • Cause of death: ICD-9 — 335
  • Cause of death: ICD-8 — 34829|3489

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

251

4. Check minimum number of events

None

251

5. Include endpoints

None

251

6. Filter based on genotype QC (FinnGen only)

245

Control definitions (FinnGen only)

Control exclude G6_NEUATR

Extra metadata

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

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 3434 1501 1850
Only index persons 1766 795 971
Unadjusted period prevalence (%)
Whole population 0.05 0.04 0.05
Only index persons 0.03 0.03 0.04
Median age at first event (years)
Whole population 60.57 61.22 59.94
Only index persons 56.32 57.03 55.75

-FinnGen-

Key figures

All Female Male
Number of individuals 245 92 153
Unadjusted period prevalence (%) 0.07 0.04 0.08
Median age at first event (years) 60.06 55.16 63.01

-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

Mortality – FinRegistry

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Relationships between endpoints

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Index endpoint: G6_SPINAMUSCOTH – Other and unspecified spinal muscular atrophies

GWS hits: 7

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