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. |
62 |
4. Check minimum number of eventsNone |
62 |
5. Include endpointsNone |
62 |
6. Filter based on genotype QC (FinnGen only) |
62 |
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
- E72
- Name in latin
- Perturbationes transportationis acidorum aminoicorum
Similar endpoints
↥List of similar endpoints to
Disorders of amino-acid transport
based on the number of shared cases.
Similar with more cases:
- Other disorders of amino-acid metabolism
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 504 | 254 | 247 |
| Only index persons | 411 | 212 | 199 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 46.24 | 47.45 | 44.84 |
| Only index persons | 47.91 | 49.69 | 46.01 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 62 | 26 | 36 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.02 |
| Median age at first event (years) | 51.50 | 40.60 | 59.38 |
-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
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.
Matched cohort
- Matched cases
- 56
- Matched controls
- 561
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E72.0
ICD-10 Finland
Disorders of amino-acid transport
+∞
54.2
43
*
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
119.4
9.7
10
*
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
26.8
8.4
11
5
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
9.4
6.9
14
19
C10AA01
ATC
simvastatin; oral
4.6
6.8
34
140
2700A
ICD-9 Finland
Disorders of amino-acid transport and metabolism, Disturbances of amino-acid transport[CYSTINURIA]
+∞
6.4
6
*
N16.3*E72.0
ICD-10 Finland
Renal tubulo-interstitial disorders in cystinosis
+∞
6.4
6
*
Mortality – FinRegistry
↥Association
Association between endpoint E4_AMINOTRANSPORT and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have E4_AMINOTRANSPORT.| 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_AMINOTRANSPORT – Disorders of amino-acid transport
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
Loading data