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This is a non-core endpoint: only basic statistics are computed.

Disorders of glycosaminoglycan metabolism

E4_GLYCOSAMINOGLYC

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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

Registry filters:

  • Hospital discharge: ICD-10 E76
  • Cause of death: ICD-10 E76

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

-

4. Check minimum number of events

None

-

5. Include endpoints

19

6. Filter based on genotype QC (FinnGen only)

19

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E70-E90
Name in latin
Perturbationes metabolismi glycosaminoglycanorum

Case counts by codes

FinnGen case counts by registry codes:

Not enough data for upset plot.

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 316 151 163
Only index persons 225 108 117
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 23.36 29.69 17.00
Only index persons 21.30 26.88 16.16

-FinnGen-

Key figures

All Female Male
Number of individuals 19 8 11
Unadjusted period prevalence (%) 0.00 0.00 0.00
Median age at first event (years) 55.81 63.13 50.50

-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
7
6
17.31
4.70
5.0
2.3
10.8
11.3
mmol/l
—
7
6
12
62
3.52
1.94
17.7
4.5
1.2
1.2
mmol/l
0.93
12
54
12
62
3.52
1.94
37.9
5.5
1.3
1.2
inr
—
5
16
14
87
3.30
1.54
17.4
4.8
7.6
6.8
mmol/l
0.40
14
82
8
34
3.31
1.53
2.1
2.4
—
—
—
0
0
5
21
2.85
1.17
4.0
1.7
—
—
—
0
0
10
59
2.46
1.14
5.8
6.0
61.3
58.3
%
—
10
53
10
59
2.46
1.14
5.5
6.1
0.7
0.7
%
—
10
52
10
61
2.34
1.09
5.5
6.0
2.0
3.0
%
—
10
53
8
41
2.63
1.08
4.3
4.8
—
—
—
0
0
8
46
2.27
0.99
3.8
2.5
—
—
—
0
0
9
56
2.14
0.91
2.2
2.8
—
—
—
0
0
6
32
2.27
0.91
3.5
4.8
—
—
—
0
0
10
62
2.28
0.90
5.5
6.0
7.7
9.1
%
—
10
55
10
62
2.28
0.90
5.8
6.1
27.1
26.1
%
—
10
55
0
26
0.00
0.86
0.0
1.2
—
29.3
—
0
7
7
39
2.25
0.85
3.3
2.9
—
—
—
0
0
7
40
2.18
0.83
1.1
1.2
—
—
—
0
0
8
50
2.03
0.75
2.5
2.2
2.3
2.3
mmol/l
—
8
44
14
109
2.07
0.65
5.5
3.9
—
—
—
0
0
6
37
1.90
0.63
2.7
1.6
12.0
17.3
nmol/l
—
6
29
7
44
1.93
0.59
5.4
6.5
—
—
—
0
0
9
65
1.73
0.50
5.7
5.5
0.7
0.6
e9/l
—
9
53
9
66
1.69
0.50
5.8
5.5
0.1
0.0
e9/l
—
9
54
9
67
1.65
0.49
6.0
5.6
1.6
1.7
e9/l
—
9
60
9
68
1.61
0.48
6.2
5.6
0.2
0.2
e9/l
—
9
60
10
76
1.66
0.48
10.1
8.9
5.0
4.3
e9/l
—
10
64
13
103
1.83
0.48
4.4
3.8
—
—
—
0
0
5
31
1.83
0.48
10.8
3.3
83.4
92.2
%
—
5
31
5
38
1.43
0.26
6.4
3.9
—
—
—
0
0
0
11
0.00
0.22
0.0
1.5
—
—
—
0
0
0
11
0.00
0.22
0.0
1.5
—
1.5
—
0
11
0
12
0.00
0.22
0.0
2.7
—
—
—
0
0
0
12
0.00
0.22
0.0
1.5
—
—
—
0
0
7
64
1.15
0.10
5.7
2.7
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
6.3
—
0
5
0
5
0.00
0.00
0.0
1.2
—
17.7
—
0
5
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
0.3
—
0
5
14
133
1.20
0.00
27.1
14.1
33.5
40.5
%
—
7
99
0
6
0.00
0.00
0.0
5.2
—
0.8
—
0
6
0
5
0.00
0.00
0.0
1.6
—
8.0
—
0
5
0
5
0.00
0.00
0.0
1.0
—
1.1
—
0
5
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint E4_GLYCOSAMINOGLYC and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_GLYCOSAMINOGLYC.

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_GLYCOSAMINOGLYC – Disorders of glycosaminoglycan metabolism

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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