This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
GM2 gangliosidosis
E4_GM2GANGLIO
No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
10 |
4. Check minimum number of eventsNone |
10 |
5. Include endpointsNone |
10 |
6. Filter based on genotype QC (FinnGen only) |
10 |
Control definitions (FinnGen only)
- Control exclude
- E4_METABOLIA
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- E75
- Name in latin
- Gangliosidosis GM2
Similar endpoints
↥List of similar endpoints to
GM2 gangliosidosis
based on the number of shared cases.
Similar with more cases:
- Disorders of sphingolipid metabolism and other lipid storage disorders
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 97 | 54 | 43 |
| Only index persons | 79 | 44 | 35 |
| 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 | - | 58.29 | 50.07 |
| Only index persons | 54.97 | 58.87 | 50.07 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 10 | 7 | - |
| Unadjusted period prevalence (%) | 0.00 | 0.00 | - |
| Median age at first event (years) | 62.85 | 62.23 | - |
-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
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
5
39
1.56
0.29
12.6
4.1
1.2
1.2
mmol/l
—
5
33
0
10
0.00
0.23
0.0
3.0
—
16.5
—
0
10
0
10
0.00
0.23
0.0
5.4
—
211.1
—
0
10
0
13
0.00
0.22
0.0
5.1
—
32.9
—
0
7
10
94
+∞
0.00
27.9
13.9
84.1
74.4
umol/l
—
10
94
0
5
0.00
0.00
0.0
1.2
—
59.0
—
0
5
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
4.2
—
2.0
—
0
5
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
5
53
0.89
0.00
21.2
9.1
5.5
4.2
e9/l
—
5
45
5
52
0.92
0.00
2.4
2.9
31.4
53.3
u/l
—
5
46
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint E4_GM2GANGLIO and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have E4_GM2GANGLIO.| 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_GM2GANGLIO – GM2 gangliosidosis
GWS hits: -
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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