Risteys · E4_GLYCOSTOR

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 — E74.0 Hospital discharge: ICD-9 — 2710 Hospital discharge: ICD-8 — 271[0-1] Cause of death: ICD-10 — E74.0 Cause of death: ICD-9 — 2710 Cause of death: ICD-8 — 271[0-1] 2 out of 7 registries used, show all original rules.	25
4. Check minimum number of events None	25
5. Include endpoints None	25
6. Filter based on genotype QC (FinnGen only)	25

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	196	85	109
Only index persons	137	65	72
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	37.78	42.15	34.32
Only index persons	32.49	42.15	23.77

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	25	10	15
Unadjusted period prevalence (%)	0.01	0.00	0.01
Median age at first event (years)	33.09	24.42	38.87

-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

unit

cases

controls

-log₁₀(p)

N cases

N controls

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

6.19

2.57

2.0

4.8

ng/l

323.2

88.2

—

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

5.93

2.18

1.4

3.1

—

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

3.43

1.93

1.5

1.9

—

(3033658) Prothrombin time (PT) actual/Normal

3.21

1.89

11.0

5.3

93.2

86.8

—

(3000850) Epithelial cells [#/volume] in Urine

3.04

1.74

2.5

3.3

e6/l

7.1

3.7

—

(3037467) Urinalysis macro (dipstick) panel - Urine

125

3.15

1.71

5.8

4.6

—

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

109

2.74

1.66

11.0

5.5

mmol/l

6.3

6.4

0.16

101

(40758558) Short blood count panel - Blood

2.79

1.63

3.0

9.4

—

(4035726)

3.89

1.60

1.4

1.7

—

(3023368) Bacteria identified in Blood by Culture

2.88

1.59

3.9

5.4

—

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

110

2.69

1.47

4.5

3.6

u/l

37.9

39.4

0.05

101

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

3.40

1.43

5.4

3.5

—

(4010399)

3.40

1.43

1.6

1.3

—

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

2.42

1.24

5.6

4.6

—

(3026008) Bacteria identified in Urine by Culture

2.48

1.22

2.0

2.3

—

(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection

2.86

1.21

1.8

1.4

—

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

2.19

1.10

1.6

nmol/l

14.6

19.8

—

(3015736) pH of Urine

2.28

1.08

2.7

4.0

—

(3004789) Transferrin [Mass/volume] in Serum or Plasma

2.30

1.07

8.7

2.3

g/l

2.3

2.5

—

(3030467) Casts [#/volume] in Urine by Automated count

2.31

1.07

3.5

3.7

e6/l

0.2

0.1

—

(3041096) Erythrocytes [Presence] in Urine by Automated

2.39

1.02

2.6

2.7

—

(3026493) Urate [Moles/volume] in Serum or Plasma

2.39

1.02

6.1

4.9

umol/l

439.3

382.4

—

(36304419) Bacteria [Presence] in Urine

2.26

1.02

3.5

3.6

—

(3012544) pH of Venous blood

2.60

1.02

18.0

9.5

—

(3042936) Bacteria identified in Isolate by Culture

2.40

0.97

1.3

1.9

—

(3026782) Osmolality of Urine

2.14

0.96

2.8

2.6

mosm/kgh2o

416.3

624.8

—

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

2.15

0.95

3.5

3.9

—

(3001122) Ferritin [Mass/volume] in Serum or Plasma

2.08

0.91

9.1

3.0

ug/l

271.8

131.3

0.44

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

2.03

0.86

4.9

2.4

nmol/l

62.7

76.1

1.26

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

139

2.05

0.86

2.6

3.6

—

(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma

2.04

0.80

1.4

1.9

pmol/l

525.1

409.9

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.24

0.77

1.4

2.2

—

(3024561) Albumin [Mass/volume] in Serum or Plasma

1.93

0.75

12.5

5.0

g/l

34.8

36.1

0.51

(3013512) EKG study

1.87

0.74

3.6

4.3

—

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

2.06

0.73

2.4

2.2

ng/l

14.0

39.7

—

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

144

1.89

0.69

11.9

6.6

u/l

99.1

104.0

0.11

132

(3044640) Blood type and Crossmatch panel - Blood

1.79

0.68

4.6

2.5

—

(3019284) Hepatitis B virus surface Ag [Presence] in Serum

1.90

0.67

3.8

1.8

—

(3048689) Calprotectin [Mass/mass] in Stool

1.90

0.67

1.4

2.1

ug/g

25.8

75.8

—

(3044889) 12 lead EKG panel

112

1.85

0.67

3.7

4.0

—

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

1.59

0.51

2.7

1.9

u/l

36.3

57.9

—

(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma

1.50

0.45

4.3

4.8

ug/l

1.5

2.2

—

(3020961) Endomysium IgA Ab [Titer] in Serum

0.00

0.43

0.0

1.6

—

(46235355) HIV 1 and 2 tests - Meaningful Use set

1.65

0.40

3.7

1.8

—

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

1.59

0.40

4.7

2.8

mmol/l

2.4

—

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

1.52

0.39

5.5

2.5

—

(3019150) Specific gravity of Urine by Refractometry

1.52

0.39

3.5

4.7

—

1.0

—

(3018010) Neutrophils/100 leukocytes in Blood

120

0.72

0.24

17.5

7.7

49.8

54.8

—

109

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.27

0.23

1.4

2.0

—

(3011397) Hemoglobin [Presence] in Urine by Test strip

1.36

0.23

3.7

4.4

—

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

1.33

0.22

2.7

1.4

mmol/l

4.9

1.4

—

(3008898) HLA-B27 [Presence]

0.00

0.22

0.0

1.0

—

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

0.00

0.22

0.0

1.4

—

(3030981) Hyaline casts [#/volume] in Urine by Automated count

0.00

0.22

0.0

4.2

—

0.1

—

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

0.00

0.22

0.0

1.4

—

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

0.00

0.22

0.0

1.4

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.4

—

(3022621) pH of Urine by Test strip

0.00

0.21

0.0

2.8

—

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

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

1.4

—

(1761868) Lipid panel - Serum or Plasma

1.26

0.20

5.4

2.3

—

(3006504) Eosinophils/100 leukocytes in Blood

118

0.75

0.20

17.9

7.9

2.3

3.0

—

105

(42870588) Differential panel, method unspecified - Blood

1.34

0.19

16.4

8.9

—

(3022096) Basophils/100 leukocytes in Blood

116

0.77

0.16

18.0

7.9

0.7

—

102

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

1.11

0.10

1.4

1.5

—

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

1.09

0.08

6.1

3.2

—

(3013115) Eosinophils [#/volume] in Blood

120

0.85

0.06

16.7

8.3

e9/l

0.1

0.2

1.21

104

(3002030) Lymphocytes/100 leukocytes in Blood

120

0.85

0.06

17.3

8.0

34.2

30.6

0.39

109

(3019069) Monocytes/100 leukocytes in Blood

118

0.88

0.03

16.9

8.1

9.9

8.4

0.78

105

(3019198) Lymphocytes [#/volume] in Blood

123

0.95

0.00

15.7

7.9

e9/l

1.9

2.1

0.41

109

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

135

0.92

0.00

16.2

13.0

e9/l

3.0

3.8

0.93

113

(3001604) Monocytes [#/volume] in Blood

118

1.03

0.00

15.5

8.0

e9/l

0.5

0.6

0.50

(3049717) Cytology report of Urine Cyto stain

0.00

0.0

3.2

—

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

0.00

0.0

1.2

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.0

1.8

—

(3020891) Body temperature

0.00

0.0

5.9

—

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

0.00

0.0

2.0

—

(3016879) Cocaine [Presence] in Urine

0.00

0.0

1.3

—

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

0.00

0.0

1.3

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.0

1.5

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.0

1.5

—

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

0.00

0.0

1.7

—

(3028271) Lactate [Moles/volume] in Capillary blood

0.00

0.0

1.6

—

1.5

—

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

0.00

0.0

1.2

—

(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain

0.00

0.0

2.0

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

0.00

0.0

1.5

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

0.00

0.0

1.5

—

(3022914) Cancer Ag 19-9 [Units/volume] in Serum or Plasma

0.00

0.0

2.5

—

32.9

—

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

0.00

0.0

1.3

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

0.00

0.0

1.5

—

(40768804) Tissue Pathology biopsy report

1.00

0.00

1.7

2.1

—

(3018405) Lactate [Moles/volume] in Arterial blood

0.00

0.0

11.3

—

1.6

—

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

0.00

0.0

1.2

—

(1002224) Polysomnography panel

0.00

0.0

1.0

—

(3003740) Influenza virus B Ag [Presence] in Specimen

0.00

0.0

1.4

—

(3025941) Bacteria identified in Stool by Culture

0.00

0.0

1.6

—

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

0.00

0.0

1.7

—

(3002523) Influenza virus A Ag [Presence] in Specimen

0.00

0.0

1.4

—

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

0.00

0.0

1.5

—

(3043409) Potassium [Moles/volume] in Arterial blood

0.00

0.0

2.7

—

4.3

—

(3028707) Methadone [Presence] in Urine by Screen method

0.00

0.0

1.2

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_GLYCOSTOR and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_GLYCOSTOR.

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_GLYCOSTOR – Glycogen storage disease

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

NAME	E4_GLYCOSTOR
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	E740
HD_ICD_9	2710
HD_ICD_8	271[0-1]
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E740
COD_ICD_9	2710
COD_ICD_8	271[0-1]
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

Glycogen storage disease

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