connective tissue disease: A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects.
Systemic disorders of connective tissue in diseases classified elsewhere (FG)
DOID EFO Endpoint Browser PheWeb
SYSTINOTH_FG
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersNone 0 out of 7 registries used, show all original rules. |
0 |
4. Check minimum number of eventsNone |
0 |
5. Include endpoints |
70 |
6. Filter based on genotype QC (FinnGen only) |
69 |
Control definitions (FinnGen only)
Control exclude
RHEUMA_ENDPOINTS
Extra metadata
First used in FinnGen datafreeze
DF2
Similar endpoints
↥List of similar endpoints to
Systemic disorders of connective tissue in diseases classified elsewhere (FG)
based on the number of shared cases.
Similar with more cases:
- Systemic disorders of connective tissue in diseases classified elsewhere
- Other systemic involvement of connective tissue
- Systemic connective tissue disorders
- Finngen Rheumatological endpoints
- Diseases of the musculoskeletal system and connective tissue
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1123 | 499 | 623 |
| Only index persons | 887 | 401 | 486 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.01 | 0.02 |
| Only index persons | 0.02 | 0.01 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 14.71 | 17.68 | 12.30 |
| Only index persons | 19.58 | 23.11 | 16.67 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 69 | 38 | 31 |
| Unadjusted period prevalence (%) | 0.02 | 0.01 | 0.02 |
| Median age at first event (years) | 56.02 | 52.56 | 60.25 |
-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
Mortality – FinRegistry
↥Association
Association between endpoint SYSTINOTH_FG and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| SYSTINOTH_FG | 6.501 [4.18, 10.11] | < 0.001 |
| Birth year | 0.999 [0.99, 1.01] | 0.748 |
During the follow-up period (1.1.1998 — 31.12.2019), 99 out of 452 females with SYSTINOTH_FG died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| SYSTINOTH_FG | 4.561 [2.89, 7.19] | < 0.001 |
| Birth year | 0.99 [0.98, 1.0] | 0.024 |
During the follow-up period (1.1.1998 — 31.12.2019), 108 out of 560 males with SYSTINOTH_FG died.
Mortality risk
Mortality risk for people of age
years, who have SYSTINOTH_FG.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.869% | 0.862% |
| 5 | 4.764% | 5.226% |
| 10 | 10.807% | 12.795% |
| 15 | 18.419% | 24.153% |
| 20 | 30.062% | 38.855% |
Relationships between endpoints
↥Index endpoint: SYSTINOTH_FG – Systemic disorders of connective tissue in diseases classified elsewhere (FG)
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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