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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

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

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

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

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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
10.81
11.25
mmol/l
—
7
6
12
60
3.69
2.01
17.7
4.6
1.24
1.19
mmol/l
1.03
12
52
14
83
3.59
1.81
17.4
4.9
7.56
6.87
mmol/l
0.36
14
78
12
68
3.06
1.59
38.8
12.0
1.28
1.23
inr
—
5
15
8
35
3.20
1.50
2.3
2.4
—
—
—
0
0
8
40
2.71
1.33
4.3
4.8
—
—
—
0
0
5
21
2.85
1.17
4.0
1.7
—
—
—
0
0
10
58
2.52
1.15
5.8
5.8
61.28
58.06
%
—
10
52
10
58
2.52
1.15
5.5
5.9
0.73
0.72
%
—
10
51
10
60
2.40
1.12
5.5
5.8
1.99
2.93
%
—
10
52
5
22
2.71
1.10
31.8
5.3
108.40
103.50
mmol/l
—
5
22
10
61
2.34
1.09
5.8
5.9
27.14
26.45
%
—
10
54
10
61
2.34
1.09
5.5
5.8
7.74
9.05
%
—
10
54
8
45
2.33
1.01
3.8
2.4
—
—
—
0
0
10
63
2.23
0.89
5.8
6.7
—
—
—
0
0
7
38
2.32
0.86
3.3
3.0
—
—
—
0
0
0
26
0.00
0.86
0.0
1.3
—
26.76
—
0
8
7
40
2.18
0.83
1.1
1.3
—
—
—
0
0
8
49
2.08
0.76
2.5
2.2
2.29
2.34
mmol/l
—
8
43
14
107
2.16
0.65
5.5
3.8
—
—
—
0
0
6
36
1.97
0.64
2.7
1.6
12.03
17.03
nmol/l
—
6
28
13
100
1.94
0.64
4.4
3.8
—
—
—
0
0
9
64
1.77
0.51
5.7
5.3
0.68
0.57
e9/l
—
9
52
9
65
1.73
0.50
5.8
5.2
0.06
0.04
e9/l
—
9
53
9
66
1.69
0.50
6.0
5.3
1.60
1.68
e9/l
—
9
59
9
67
1.65
0.49
6.2
5.4
0.19
0.18
e9/l
—
9
59
5
30
1.90
0.48
10.8
3.3
83.40
91.87
%
—
5
30
10
75
1.70
0.48
10.1
8.7
4.96
4.26
e9/l
—
10
63
5
36
1.52
0.27
6.4
4.1
—
—
—
0
0
0
11
0.00
0.22
0.0
1.5
—
0.66
—
0
11
0
11
0.00
0.22
0.0
1.5
—
1.52
—
0
11
0
10
0.00
0.22
0.0
1.6
—
—
—
0
0
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
62
1.20
0.10
5.7
2.8
—
—
—
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
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
1.11
—
0
5
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
17.40
—
0
5
0
5
0.00
-0.00
0.0
1.2
—
17.70
—
0
5
0
5
0.00
-0.00
0.0
1.6
—
8.00
—
0
5
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
5.2
—
0.75
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.4
—
3.99
—
0
8
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
6.32
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
0.26
—
0
5

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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