connective tissue disease: A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects.
Other specified/unspecified systemic involvement of connective tissue
DOID EFO Endpoint Browser PheWeb
M13_CONNECTNAS
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 filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
2074 |
4. Check minimum number of eventsNone |
2074 |
5. Include endpointsNone |
2074 |
6. Filter based on genotype QC (FinnGen only) |
1996 |
Control definitions (FinnGen only)
Control exclude
M13_SYSTCONNECT
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Similar endpoints
↥List of similar endpoints to
Other specified/unspecified systemic involvement of connective tissue
based on the number of shared cases.
Similar with more cases:
- Other systemic involvement of connective tissue (FG)
- 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:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 14013 | 10660 | 3215 |
| Only index persons | 11603 | 9189 | 2414 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.25 | 0.31 | 0.09 |
| Only index persons | 0.29 | 0.34 | 0.09 |
| Median age at first event (years) | |||
| Whole population | 52.98 | 51.92 | 56.35 |
| Only index persons | 50.88 | 50.14 | 53.68 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 1996 | 1582 | 414 |
| Unadjusted period prevalence (%) | 0.54 | 0.62 | 0.21 |
| Median age at first event (years) | 50.65 | 49.15 | 56.40 |
-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
-FinnGen-
Cumulative Incidence Function
Mortality – FinRegistry
↥Association
Association between endpoint M13_CONNECTNAS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| M13_CONNECTNAS | 1.701 [1.54, 1.88] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.266 |
During the follow-up period (1.1.1998 — 31.12.2019), 1412 out of 7588 females with M13_CONNECTNAS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| M13_CONNECTNAS | 1.857 [1.6, 2.16] | < 0.001 |
| Birth year | 0.988 [0.98, 1.0] | 0.012 |
During the follow-up period (1.1.1998 — 31.12.2019), 678 out of 2013 males with M13_CONNECTNAS died.
Mortality risk
Mortality risk for people of age
years, who have M13_CONNECTNAS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.156% | 0.352% |
| 5 | 0.931% | 1.948% |
| 10 | 2.497% | 5.225% |
| 15 | 4.892% | 9.977% |
| 20 | 8.538% | 16.941% |
Relationships between endpoints
↥Index endpoint: M13_CONNECTNAS – Other specified/unspecified systemic involvement of connective tissue
GWS hits: 1
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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