Defects in glycoprotein degradation

E4_GLYCOPROTDEGR

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 — E77.1 Cause of death: ICD-10 — E77.1 2 out of 7 registries used, show all original rules.	13
4. Check minimum number of events None	13
5. Include endpoints None	13
6. Filter based on genotype QC (FinnGen only)	13

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: E77
Name in latin: Defectus degradationis glycoproteinorum

NAME	E4_GLYCOPROTDEGR
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E771
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E771
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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

↥

List of similar endpoints to Defects in glycoprotein degradation based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	344	169	175
Only index persons	261	124	137
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.00	0.01
Median age at first event (years)
Whole population	-	30.09	30.01
Only index persons	25.20	26.53	24.00

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	13	6	7
Unadjusted period prevalence (%)	0.00	0.00	0.00
Median age at first event (years)	22.54	33.27	13.34

-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

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3023368) Bacteria identified in Blood by Culture

4.39

1.61

3.8

2.0

—

(3009201) Thyrotropin [Units/volume] in Serum or Plasma

0.25

1.61

7.2

4.1

1.8

1.9

mu/l

—

(3041096) Erythrocytes [Presence] in Urine by Automated

3.84

1.43

1.2

1.8

—

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

0.33

1.14

4.8

3.3

4.5

4.7

mmol/l

—

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

0.35

1.11

4.4

3.3

1.2

1.4

mmol/l

—

(3000991) Gas panel - Venous blood

0.00

0.89

0.0

4.0

—

(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting

0.36

0.88

3.4

2.9

1.9

1.3

mmol/l

—

(3012544) pH of Venous blood

0.00

0.67

0.0

3.9

—

(3016293) Bicarbonate [Moles/volume] in Serum or Plasma

0.00

0.66

0.0

5.0

—

25.3

—

(3002032) Base excess in Venous blood by calculation

0.00

0.66

0.0

3.9

—

2.4

—

(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma

0.43

0.66

5.8

3.6

2.7

2.8

mmol/l

—

(3031040) Bacteria [#/volume] in Urine by Automated count

2.24

0.62

3.0

2.5

—

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

1.99

0.50

2.0

2.1

—

(3014111) Lactate [Moles/volume] in Serum or Plasma

0.00

0.44

0.0

3.0

—

1.5

—

(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma

0.00

0.44

0.0

2.3

—

2276.8

—

(21494755) Public health laboratory ask at order entry panel

0.00

0.44

0.0

1.3

—

(40760892) CBC W Ordered Manual Differential panel - Blood

0.00

0.44

0.0

4.5

—

(3000492) Spirometry study

0.00

0.44

0.0

1.4

—

(3024354) Oxygen [Partial pressure] in Venous blood

0.00

0.43

0.0

3.7

—

5.3

—

(3022096) Basophils/100 leukocytes in Blood

1.75

0.40

5.6

5.0

0.7

0.6

—

(3019069) Monocytes/100 leukocytes in Blood

1.70

0.40

6.1

5.0

10.0

8.1

—

(3006504) Eosinophils/100 leukocytes in Blood

1.70

0.40

5.8

5.0

2.9

3.6

—

(3018010) Neutrophils/100 leukocytes in Blood

1.64

0.25

6.4

5.0

48.1

51.7

—

(42870588) Differential panel, method unspecified - Blood

1.41

0.25

6.8

4.6

—

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

1.41

0.25

8.2

6.1

1.2

mmol/l

—

(3002030) Lymphocytes/100 leukocytes in Blood

1.59

0.25

6.5

5.0

35.0

33.2

—

(3013707) Erythrocyte sedimentation rate by Westergren method

1.50

0.24

2.8

3.8

23.1

8.1

mm/h

—

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

0.00

0.22

0.0

1.8

—

86.6

—

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

0.00

0.22

0.0

1.2

—

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

0.00

0.22

0.0

1.3

—

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

0.00

0.22

0.0

1.3

—

(3014576) Chloride [Moles/volume] in Serum or Plasma

0.00

0.22

0.0

3.8

—

104.0

—

(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma

1.37

0.12

10.5

5.8

1.2

mmol/l

—

(3021589) Normoblasts [#/volume] in Blood

0.73

0.11

7.4

5.7

0.0

e9/l

—

(3044889) 12 lead EKG panel

0.75

0.11

1.8

2.7

—

(3001604) Monocytes [#/volume] in Blood

1.20

0.11

6.0

5.0

0.7

0.5

e9/l

—

(3006315) Basophils [#/volume] in Blood

1.20

0.11

6.3

5.0

0.0

e9/l

—

(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.8

—

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

0.00

0.0

1.2

—

142.3

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.00

0.0

1.8

—

(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma

0.00

0.0

6.8

—

(3036481) Cortisol [Moles/volume] in Serum or Plasma

0.00

0.0

4.1

—

358.6

—

(3037467) Urinalysis macro (dipstick) panel - Urine

1.13

0.00

2.6

2.8

—

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

0.91

0.00

6.6

6.4

3.1

3.6

e9/l

—

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

0.00

0.0

1.6

—

1.3

—

(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma

1.06

0.00

7.9

5.0

123.9

110.8

u/l

—

(3020961) Endomysium IgA Ab [Titer] in Serum

0.00

0.0

1.9

—

(3030366) Cystatin C [Mass/volume] in Serum or Plasma

0.00

0.0

10.0

—

0.9

—

(3024891) Influenza virus A+B Ag [Presence] in Specimen

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

(3014007) Fractional oxyhemoglobin in Arterial blood

0.00

0.0

3.2

—

97.6

—

(3011960) Natriuretic peptide B [Mass/volume] in Serum or Plasma

0.00

0.0

3.9

—

210.2

—

(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay

0.00

0.0

1.2

—

(3019198) Lymphocytes [#/volume] in Blood

1.06

0.00

6.9

4.8

2.1

2.3

e9/l

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

0.00

0.0

3.2

—

0.6

—

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.0

—

(1001926) Buprenorphine [Presence] in Urine by Screen method

0.00

0.0

1.4

—

(40766189) Gliadin peptide IgG Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.2

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

0.00

0.0

3.2

—

0.6

—

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

0.00

0.0

1.1

—

(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay

0.00

0.0

1.4

—

2.4

—

(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma

0.00

0.0

1.4

—

(3021387) Prolactin [Units/volume] in Serum or Plasma

0.00

0.0

1.3

—

212.1

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

0.00

0.0

2.0

—

0.6

—

(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.8

—

(40761535) Cells panel - Urine sediment

0.00

0.0

2.9

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.4

—

(3019230) Fractional oxyhemoglobin in Venous blood

0.00

0.0

2.0

—

62.5

—

(3008898) HLA-B27 [Presence]

0.00

0.0

1.0

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.0

1.8

—

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

0.00

0.0

1.6

—

0.2

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_GLYCOPROTDEGR and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_GLYCOPROTDEGR.

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_GLYCOPROTDEGR – Defects in glycoprotein degradation

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

Defects in glycoprotein degradation

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