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Disorder of carbohydrate metabolism, other/unspecified

DOID EFO Endpoint Browser PheWeb

E4_CARBONAS

renal glycosuria: An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene.

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

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

Registry filters:

  • Hospital discharge: ICD-10 — E74.80, E74.89, E74.9
  • Hospital discharge: ICD-9 — 271[4-9]
  • Hospital discharge: ICD-8 — 271[8-9]
  • Cause of death: ICD-10 — E74.80, E74.89, E74.9
  • Cause of death: ICD-9 — 271[4-9]
  • Cause of death: ICD-8 — 271[8-9]

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

111

4. Check minimum number of events

None

111

5. Include endpoints

None

111

6. Filter based on genotype QC (FinnGen only)

107

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

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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 944 427 508
Only index persons 762 350 412
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.02
Median age at first event (years)
Whole population 27.25 34.74 20.56
Only index persons 25.83 32.23 20.38

-FinnGen-

Key figures

All Female Male
Number of individuals 107 48 59
Unadjusted period prevalence (%) 0.02 0.02 0.03
Median age at first event (years) 24.14 28.73 20.40

-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

No data

Mortality – FinRegistry

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Association

Association between endpoint E4_CARBONAS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_CARBONAS.

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_CARBONAS – Disorder of carbohydrate metabolism, 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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