Disorders of glycosaminoglycan metabolism

E4_GLYCOSAMINOGLYC

No definition available.

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 E4_MUCOPOLY1 E4_MUCOPOLY2 E4_MUCOPOLYNAS E4_GLUCOSAMINOGLYCNAS	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

NAME	E4_GLYCOSAMINOGLYC
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE	E4_MUCOPOLY1\|E4_MUCOPOLY2\|E4_MUCOPOLYNAS\|E4_GLUCOSAMINOGLYCNAS
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E76
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E76
COD_ICD_9
COD_ICD_8
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

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List of similar endpoints to Disorders of glycosaminoglycan metabolism based on the number of shared cases.

Similar with more cases:

Similar with less cases:

Case counts by codes

↥

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	0.00
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)

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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

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

unit

cases

controls

-log₁₀(p)

N cases

N controls

(3020779) Urea [Moles/volume] in Serum or Plasma

17.31

4.70

5.0

2.3

mmol/l

10.8

11.3

—

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

4.56

2.49

5.4

3.4

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

3.52

1.94

17.7

4.5

mmol/l

1.2

0.93

(3032080) INR in Blood by Coagulation assay

3.52

1.94

37.9

5.5

inr

1.3

1.2

—

(3013826) Glucose [Moles/volume] in Serum or Plasma

3.30

1.54

17.4

4.8

mmol/l

7.6

6.8

0.40

(3026008) Bacteria identified in Urine by Culture

3.31

1.53

2.1

2.4

—

(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture

3.38

1.38

4.6

2.6

—

(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma

2.44

1.17

2.7

2.1

nmol/l

84.8

80.6

—

(3042936) Bacteria identified in Isolate by Culture

2.85

1.17

4.0

1.7

—

(3018010) Neutrophils/100 leukocytes in Blood

2.46

1.14

5.8

6.0

61.3

58.3

—

(3022096) Basophils/100 leukocytes in Blood

2.46

1.14

5.5

6.1

0.7

—

(3006504) Eosinophils/100 leukocytes in Blood

2.34

1.09

5.5

6.0

2.0

3.0

—

(3023368) Bacteria identified in Blood by Culture

2.63

1.08

4.3

4.8

—

(3044640) Blood type and Crossmatch panel - Blood

2.27

0.99

3.8

2.5

—

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

2.14

0.91

3.0

—

(3015736) pH of Urine

2.14

0.91

2.2

2.8

—

(40760892) CBC W Ordered Manual Differential panel - Blood

2.27

0.91

3.5

4.8

—

(3019069) Monocytes/100 leukocytes in Blood

2.28

0.90

5.5

6.0

7.7

9.1

—

(3002030) Lymphocytes/100 leukocytes in Blood

2.28

0.90

5.8

6.1

27.1

26.1

—

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

0.00

0.86

0.0

1.2

—

29.3

—

(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture

0.00

0.86

0.0

1.9

—

(3041096) Erythrocytes [Presence] in Urine by Automated

2.25

0.85

3.3

2.9

—

(3003694) ABO and Rh group [Type] in Blood

2.18

0.83

1.1

1.2

—

(3015377) Calcium [Moles/volume] in Serum or Plasma

2.03

0.75

2.5

2.2

mmol/l

2.3

—

(3044889) 12 lead EKG panel

109

2.07

0.65

5.5

3.9

—

(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum

0.00

0.64

0.0

1.2

—

1.1

—

(3021960) Folate [Moles/volume] in Serum or Plasma

1.90

0.63

2.7

1.6

nmol/l

12.0

17.3

—

(42870588) Differential panel, method unspecified - Blood

1.93

0.59

5.4

6.5

—

(3001604) Monocytes [#/volume] in Blood

1.73

0.50

5.7

5.5

e9/l

0.7

0.6

—

(3006315) Basophils [#/volume] in Blood

1.69

0.50

5.8

5.5

e9/l

0.1

0.0

—

(3019198) Lymphocytes [#/volume] in Blood

1.65

0.49

6.0

5.6

e9/l

1.6

1.7

—

(3013115) Eosinophils [#/volume] in Blood

1.61

0.48

6.2

5.6

e9/l

0.2

—

(3013650) Neutrophils [#/volume] in Blood by Automated count

1.66

0.48

10.1

8.9

e9/l

5.0

4.3

—

(3037467) Urinalysis macro (dipstick) panel - Urine

103

1.83

0.48

4.4

3.8

—

(3033658) Prothrombin time (PT) actual/Normal

1.83

0.48

10.8

3.3

83.4

92.2

—

(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma

0.00

0.43

0.0

1.6

—

(3013512) EKG study

1.43

0.26

6.4

3.9

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

0.00

0.22

0.0

1.5

—

(3004716) Salmonella sp identified in Stool by Organism specific culture

0.00

0.22

0.0

1.4

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

0.00

0.22

0.0

1.5

—

1.5

—

(3020891) Body temperature

0.00

0.22

0.0

2.7

—

(3021879) Hepatitis B virus core Ab [Presence] in Serum

0.00

0.22

0.0

1.5

—

(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep

0.00

0.21

0.0

1.3

—

(1761868) Lipid panel - Serum or Plasma

1.15

0.10

5.7

2.7

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.0

1.1

—

(3014765) Yersinia sp identified in Stool by Organism specific culture

0.00

0.0

1.6

—

(40768443) Skin Pathology biopsy report

0.00

0.0

1.1

—

(3006418) Campylobacter sp identified in Tissue by Organism specific culture

0.00

0.0

1.6

—

(42529406) Shigella sp [Presence] in Stool by Culture

0.00

0.0

1.6

—

(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma

0.00

0.0

1.6

—

(3017895) Helicobacter pylori Ab [Units/volume] in Serum

0.00

0.0

1.6

—

(3048929) Epstein Barr virus Ab [Presence] in Serum

0.00

0.0

1.0

—

(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma

0.00

0.0

1.4

—

(3023323) Follitropin [Units/volume] in Serum or Plasma

0.00

0.0

1.0

—

6.3

—

(43054914) Glucose tolerance 2 hours panel - Serum or Plasma

0.00

0.0

1.3

—

(3037551) Cancer Ag 125 [Units/volume] in Serum or Plasma

0.00

0.0

1.2

—

17.7

—

(1002224) Polysomnography panel

0.00

0.0

1.1

—

(36304997) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ and CD8+ T-cells [Units/volume] in Blood

0.00

0.0

1.2

—

(3050129) First trimester maternal screen panel - Serum or Plasma

0.00

0.0

1.0

—

(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method

0.00

0.0

2.2

—

91.3

—

(3008898) HLA-B27 [Presence]

0.00

0.0

1.0

—

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

0.00

0.0

1.0

—

0.3

—

(3009542) Hematocrit [Volume Fraction] of Blood

133

1.20

0.00

27.1

14.1

33.5

40.5

—

(3003327) Ova and parasites identified in Stool by Light microscopy

0.00

0.0

2.0

—

(3050238) Crystals [Presence] in Synovial fluid by Light microscopy

0.00

0.0

1.5

—

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

0.92

0.00

3.4

3.2

—

(3027456) Digoxin [Moles/volume] in Serum or Plasma

0.00

0.0

5.2

—

0.8

—

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

0.00

0.0

1.6

—

8.0

—

(3000620) Complement C3 [Mass/volume] in Serum or Plasma

0.00

0.0

1.0

—

1.1

—

(3026989) Triiodothyronine (T3) Free [Moles/volume] in Serum or Plasma

0.00

0.0

3.2

—

4.6

—

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

0.00

0.0

1.6

—

(3005702) Mycobacterium sp identified in Specimen by Organism specific culture

0.00

0.0

1.5

—

(3001019) Free T4 and TSH panel - Serum or Plasma

0.00

0.0

1.0

—

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

Loading data

Disorders of glycosaminoglycan metabolism

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

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

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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

-FinnGen-

Cumulative Incidence Function

CodeWAS (R11)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints