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

Disorders of glycosaminoglycan metabolism

DOID Endpoint Browser

E4_GLYCOSAMINOGLYC

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

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

21

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

Similar endpoints

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Case counts by codes

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FinnGen case counts by registry codes:

Not enough data for upset plot.

Full data table

Summary Statistics

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-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 0.01
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

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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
8
10
12.75
4.60
4.6
10.1
9.80
11.07
mmol/l
—
8
10
13
63
4.33
2.34
16.9
7.2
1.22
1.20
mmol/l
0.36
13
56
14
76
4.17
2.18
4.1
2.7
—
—
estimate
—
0
0
9
42
3.15
1.64
2.2
2.0
10.88
16.64
nmol/l
—
9
36
9
43
3.06
1.60
6.3
2.8
47.01
54.67
mg/l
—
9
23
11
64
2.69
1.34
5.4
6.3
0.69
0.72
%
0.05
11
58
8
40
2.71
1.33
2.1
2.6
—
—
—
0
0
9
45
2.88
1.30
7.8
3.2
27.57
13.39
mg/mmol
—
9
23
11
66
2.57
1.11
5.3
6.2
8.04
8.93
%
0.68
11
60
11
66
2.57
1.11
5.3
6.2
2.15
2.84
%
0.99
11
60
11
66
2.57
1.11
5.6
6.3
26.87
26.14
%
0.09
11
61
5
22
2.71
1.10
4.4
3.5
17.76
22.13
%
—
5
22
12
77
2.50
1.06
54.5
11.7
1.31
1.25
inr
0.15
12
63
8
44
2.40
1.03
5.0
5.2
—
—
—
0
0
6
29
2.55
1.00
3.7
1.9
—
—
—
0
0
13
160
0.41
0.97
8.5
4.6
4.20
4.65
mmol/l
0.73
13
150
13
159
0.42
0.94
8.5
4.5
1.21
1.41
mmol/l
1.35
13
147
9
57
2.09
0.89
2.2
2.3
2.28
2.33
mmol/l
—
9
51
5
23
2.58
0.83
4.6
3.4
2.32
2.17
g/l
—
5
23
5
24
2.46
0.81
31.8
8.1
108.40
103.33
mmol/l
—
5
24
8
50
2.03
0.75
4.1
2.7
—
—
—
0
0
10
131
0.50
0.70
38.8
21.5
327.20
332.43
g/l
—
10
131
10
70
1.90
0.66
5.9
6.1
0.67
0.57
e9/l
—
10
59
10
71
1.86
0.65
6.0
6.0
0.05
0.04
e9/l
—
10
60
10
71
1.86
0.65
6.2
6.1
1.68
1.62
e9/l
—
10
65
11
80
1.88
0.64
9.5
9.8
5.56
4.27
e9/l
0.81
11
68
14
112
1.94
0.64
6.2
4.2
—
—
—
0
0
6
37
1.90
0.63
3.7
5.1
—
—
—
0
0
7
45
1.87
0.58
5.4
6.7
—
—
—
0
0
7
47
1.77
0.56
1.3
1.2
—
—
—
0
0
10
74
1.74
0.49
6.4
6.1
0.18
0.18
e9/l
—
10
65
13
108
1.64
0.33
4.5
4.0
—
—
—
0
0
5
40
1.34
0.25
4.6
7.1
—
—
—
0
0
6
48
1.36
0.23
6.0
3.3
—
—
—
0
0
0
11
0.00
0.22
0.0
1.3
—
—
—
0
0
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
0
12
0.00
0.22
0.0
1.6
—
—
—
0
0
0
12
0.00
0.22
0.0
1.9
—
0.67
—
0
12
0
12
0.00
0.22
0.0
2.8
—
36.98
—
0
12
0
12
0.00
0.22
0.0
1.2
—
—
—
0
0
0
12
0.00
0.22
0.0
1.9
—
1.45
—
0
12
8
72
1.19
0.09
5.9
3.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
0.28
—
0
5
0
8
0.00
-0.00
0.0
2.4
—
3.99
—
0
8
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
5.8
—
0.73
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
8.43
—
0
6
0
5
0.00
-0.00
0.0
1.6
—
8.00
—
0
5
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
1.21
—
0
5
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0

Mortality – FinRegistry

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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

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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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