Cystic fibrosis with intestinal manifestations

E4_CYSTFIBRO_INT

obsolete_cystic fibrosis: ['A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. -- 2003', 'A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather.']

Suggest a new description

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 E84.1
  • Cause of death: ICD-10 E84.1
  • KELA reimbursements: KELA codes ANY
  • KELA reimbursements: ICD-10 E84

3 out of 7 registries used, show all original rules.

56

4. Check minimum number of events

None

56

5. Include endpoints

None

56

6. Filter based on genotype QC (FinnGen only)

52

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
E84
Name in latin
Fibrosis cystica cum manifestationibus intestinalibus

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 304 141 162
Only index persons 241 119 122
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 51.09 55.07 47.45
Only index persons 49.30 51.07 47.57

-FinnGen-

Key figures

All Female Male
Number of individuals 52 31 21
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 22.78 25.96 18.08

-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

No data

CodeWAS

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.

Matched cohort

Matched cases
55
Matched controls
550
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E84.0
ICD-10 Finland
Cystic fibrosis with pulmonary manifestations
+∞
42.2
35
*
133
Kela drug reimbursment
Severe chronic pancreatic insufficiency
256.4
42.2
39
5
A09AA02
ATC
multienzymes (lipase, protease etc.); oral
198.3
42.0
40
7
R05CB13
ATC
dornase alfa (desoxyribonuclease); inhalant
+∞
40.8
34
*
304
Kela drug reimbursment
Dornase alfa
+∞
40.8
34
*
E84.1
ICD-10 Finland
Cystic fibrosis with intestinal manifestations
+∞
38.0
32
*
E84.9
ICD-10 Finland
Cystic fibrosis, unspecified
+∞
36.6
31
*
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
26.4
34.0
41
55
J01GB01
ATC
tobramycin; inhalant, parenteral
+∞
33.9
29
*
601
Kela drug reimbursment
Severe malabsorption of nutrients, mainly fats
183.6
29.0
28
*
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
75.9
28.3
31
9
UGC12
NOMESCO Finland
Flexible bronchoscopy
148.0
25.2
25
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
15.6
24.1
38
69
TGC00
NOMESCO Finland
Bronchial lavation
+∞
22.4
20
*
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
42.5
21.9
27
12
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
14.2
21.6
27
35
E84.8
ICD-10 Finland
Cystic fibrosis with other manifestations
+∞
21.2
19
*
E13.9
ICD-10 Finland
Other specified diabetes mellitus, without complications
305.7
21.1
20
*
J32.0
ICD-10 Finland
Chronic maxillary sinusitis
26.4
20.1
29
22
J01XB01
ATC
colistin; inhalant, parenteral
+∞
20.0
18
*
J18.9
ICD-10 Finland
Pneumonia, unspecified
11.7
19.5
34
67
GD1AD
NOMESCO Finland
Thorax CT examination
41.1
19.5
24
10
GD1AA
NOMESCO Finland
Thorax X-ray examination
20.3
19.2
48
138
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
12.1
18.1
24
33
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
12.1
18.1
24
33
R4110
NOMESCO Finland
Physiotherapy
10.8
18.0
36
82
R03BA02
ATC
budesonide; inhalant
10.7
17.8
29
52
E84
ICD-10 Finland
Cystic fibrosis
+∞
17.6
16
*
L04AA06
ATC
mycophenolic acid; systemic
239.9
17.6
17
*
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
10.3
17.4
35
80
R4190
NOMESCO Finland
Nutritional therapy
27.2
17.3
24
15
GD1ED
NOMESCO Finland
Extensive high resolution CT examination of lungs
86.9
17.0
18
*
J01MA02
ATC
ciprofloxacin; systemic
10.6
16.9
39
103
R03AK06
ATC
salmeterol and fluticasone; inhalant
11.3
16.7
23
33
Z94.2
ICD-10 Finland
Lung transplant status
+∞
16.5
15
*
2770A
ICD-9 Finland
Other and unspecified disorders of metabolism, Cystic fibrosis
+∞
16.5
15
*
J32.4
ICD-10 Finland
Chronic pansinusitis
220.1
16.4
16
*
127
Kela drug reimbursment
Transplant complication
80.0
15.8
17
*
TGD04
NOMESCO Finland
Needle biopsy of the lungs in bronchoscopy
+∞
15.3
14
*
L04AD02
ATC
tacrolimus; systemic
201.4
15.3
15
*
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
73.4
14.7
16
*
XG410
NOMESCO Finland
Flow-volume spirometry
37.1
14.5
18
7
GDG10
NOMESCO Finland
Bilateral transplantation of lung
+∞
14.2
13
*
WX408
NOMESCO Finland
General anesthesy, balanced
8.1
13.9
32
81
DMB20
NOMESCO Finland
Functional endoscopic opening of maxillary antrum
21.6
13.6
20
14
ZXA10
NOMESCO Finland
Bilateral
8.5
13.4
24
46
TPH04
NOMESCO Finland
Cathetrisation of vein
8.1
13.3
26
55
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
18.0
13.3
21
18
GD1BT
NOMESCO Finland
Biopsy of lung with X-ray guidance
+∞
13.0
12
*
GD1CD
NOMESCO Finland
Thorax extensive CT-examination
+∞
13.0
12
*
TDM10
NOMESCO Finland
Puncture of maxillary antrum
21.5
13.0
19
13
J01MA12
ATC
levofloxacin; systemic
8.0
13.0
25
52
R03BA05
ATC
fluticasone; inhalant
7.8
12.8
26
57
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
23.5
12.8
18
11
WX404
NOMESCO Finland
Intravenous generell anesthesy
7.5
12.6
28
67
UDH02
NOMESCO Finland
Rhinopharyngoscopy
14.5
12.6
22
24
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
26.5
12.6
17
9
Z3226
NOMESCO Finland
Physiotherapist
7.5
12.5
27
63
XG412
NOMESCO Finland
Flow-volume spirometry with bronchospasmolysis
17.4
12.0
19
16
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
18.4
11.7
18
14
A10AB05
ATC
insulin aspart; parenteral
18.4
11.7
18
14
602
Kela drug reimbursment
Children's severe malnutrition
36.7
11.4
14
5
J33.0
ICD-10 Finland
Polyp of nasal cavity
36.7
11.4
14
5
J20.9
ICD-10 Finland
Acute bronchitis, unspecified
6.8
11.1
25
60
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
19.9
10.8
16
11
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
15.1
10.8
18
17
R07AX32
ATC
ivacaftor, tezacaftor and elexacaftor; oral
+∞
10.8
10
*
3045, ,
Kela drug reimbursment
+∞
10.8
10
*
B05XA03
ATC
sodium chloride; parenteral
+∞
10.8
10
*
R07AX02
ATC
ivacaftor; oral
+∞
10.8
10
*
DNB20
NOMESCO Finland
Endoscopic ethmoidectomy
33.2
10.4
13
5
TPX10
NOMESCO Finland
Implantation of vascular injection port
33.2
10.4
13
5
SPAT1262
SPAT
Handing over of treatment supplies
11.4
10.3
20
26
103
Kela drug reimbursment
Diabetes, insulin-treated
6.3
9.9
23
56
UJF32
NOMESCO Finland
Coloscopy
6.3
9.9
23
56
R04.2
ICD-10 Finland
Haemoptysis
119.8
9.7
10
*
DPA25
NOMESCO Finland
Trephine of frontal sinus through nose
119.8
9.7
10
*
J01MA14
ATC
moxifloxacin; systemic
13.1
9.6
17
18
XX4BW, ,
NOMESCO Finland
+∞
9.6
9
*
ZXE10
NOMESCO Finland
More than one and less than three hours
5.7
9.5
31
102
215
Kela drug reimbursment
Diabetes, non-insulin-treated
6.1
9.3
22
54
R01AD08
ATC
fluticasone; nasal
5.6
9.3
32
110
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
20.7
9.1
13
8
K90.3
ICD-10 Finland
Pancreatic steatorrhoea
59.9
9.0
10
*
ZXE00
NOMESCO Finland
One hour or less
5.5
8.9
36
140
R03AK07
ATC
formoterol and budesonide; inhalant
5.7
8.7
23
62
DM1AD
NOMESCO Finland
CT of paranasal sinuses and face area
18.4
8.7
13
9
Z3229
NOMESCO Finland
Other healthcare associate professional
10.6
8.7
17
22
J01CF05
ATC
flucloxacillin; systemic
10.6
8.7
17
22
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
105.6
8.7
9
*
R05CB02
ATC
bromhexine; systemic
+∞
8.5
8
*
DPA30
NOMESCO Finland
Sphenotomy
+∞
8.5
8
*
RS123, ,
NOMESCO Finland
+∞
8.5
8
*
Z31.5
ICD-10 Finland
Genetic counselling
10.2
8.5
17
23
R03AC02
ATC
salbutamol; inhalant
7.2
8.4
47
247
UDM02
NOMESCO Finland
Sinoscopy
26.9
8.4
11
5
H02AB06
ATC
prednisolone; systemic
5.3
8.2
37
154
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
6.0
8.1
18
41
Z01.1
ICD-10 Finland
Examination of ears and hearing
6.0
8.1
18
41
UDC00
NOMESCO Finland
Ear microscopy
10.3
8.1
16
21
TFB00
NOMESCO Finland
Cathetrisation of pulmonal artery
52.8
8.0
9
*
Z00.4
ICD-10 Finland
General psychiatric examination, not elsewhere classified
5.9
7.9
18
42
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
9.8
7.9
16
22
A05AA02
ATC
ursodeoxycholic acid; oral
29.9
7.9
10
*
DM1AI
NOMESCO Finland
Cone beam CT of paranasal sinus
29.9
7.9
10
*
WX302
NOMESCO Finland
Thoracal epidural anesthesy
16.6
7.8
12
9
XF400
NOMESCO Finland
ECG with 12 standard connections
6.0
7.8
17
38
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
13.7
7.8
13
12
OAB50, ,
SPAT
13.7
7.8
13
12
SPAT1255
SPAT
Intravenous administration of medicine
19.2
7.6
11
7
Z2446
NOMESCO Finland
Social worker
8.9
7.5
16
24
WX872
NOMESCO Finland
Intensive care
14.9
7.5
12
10
ZXD10
NOMESCO Finland
Scheduled procedure
4.7
7.5
32
126
DHB20
NOMESCO Finland
Polypectomy of internal nose
+∞
7.4
7
*
TPH30
NOMESCO Finland
Insertion of central venous catheter through periferal vein
35.1
7.4
9
*
R03AC03
ATC
terbutaline; inhalant
5.7
7.4
17
40
WX402
NOMESCO Finland
General anaesthesia
5.0
7.3
21
60
WX002
NOMESCO Finland
Sedation and analgesia
5.5
7.3
18
45
C03CA01
ATC
furosemide; systemic
5.1
7.3
20
55
FB1BD
NOMESCO Finland
Extensive CT examination of arteria pulmonalis
16.7
7.2
11
8
R03AC13
ATC
formoterol; inhalant
16.7
7.2
11
8
ZX120
NOMESCO Finland
Intravenous
10.0
7.2
14
18
ZXE06
NOMESCO Finland
Procedure duration 50 to 59 minutes
10.0
7.2
14
18
Z2221
NOMESCO Finland
Medical doctor
4.6
7.1
27
96
A02BA03
ATC
famotidine; systemic
19.9
7.0
10
6
ZXE40
NOMESCO Finland
More than seven and less than nine hours
45.8
7.0
8
*
GD1BD
NOMESCO Finland
Thorax extensive CT-examination
26.3
6.9
9
*
SPAT1325
SPAT
Vaccination
4.4
6.8
32
133
JN3AA
NOMESCO Finland
Abdominal X-ray examination without contrast
17.0
6.7
10
7
Z3231
NOMESCO Finland
Registered nurse
4.3
6.5
25
89
A06AD11
ATC
lactulose; oral
10.6
6.5
12
14
ZXE05
NOMESCO Finland
Procedure duration 40 to 49 minutes
10.6
6.5
12
14
J45.9
ICD-10 Finland
Asthma, unspecified
4.8
6.4
19
55
J01CR02
ATC
amoxicillin and beta-lactamase inhibitor; systemic
5.5
6.4
45
247
4730A
ICD-9 Finland
Chronic sinusitis, Maxillary
30.6
6.4
8
*
E14.9
ICD-10 Finland
Unspecified diabetes mellitus, without complications
30.6
6.4
8
*
DM1BG
NOMESCO Finland
Paranasal sinuses and face area standard MRI examination with high intensity magnet
+∞
6.4
6
*
J02AC04
ATC
posaconazole; systemic
+∞
6.4
6
*
27300
ICD-8 Finland
Other and unspecified congenital disorders of metabolism, Cystic fibrosis (mucoviscidosis)
+∞
6.4
6
*
V07AB
ATC
Solvents and diluting agents, incl. irrigating solutions
+∞
6.4
6
*
A31.0
ICD-10 Finland
Pulmonary mycobacterial infection
+∞
6.4
6
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
6.6
6.2
16
32
WZC00
NOMESCO Finland
Treatment plan or consultation
4.1
6.1
33
148

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
33
46
16.43
25.65
17.9
1.3
—
—
—
0
0
32
55
12.52
20.71
6.1
2.0
—
—
—
0
0
30
53
11.25
18.74
5.0
1.3
—
—
—
0
0
21
6
54.87
18.31
4.8
1.0
—
—
—
0
0
21
6
54.87
18.31
4.8
1.0
—
—
—
0
0
21
6
54.87
18.31
4.8
1.0
—
—
—
0
0
21
6
54.87
18.31
4.8
1.0
—
—
—
0
0
27
43
11.37
18.26
11.4
13.6
103.07
105.33
mmol/l
0.96
27
43
15
0
+∞
16.46
1.3
0.0
—
—
—
0
0
38
100
10.06
16.39
5.6
1.7
1.25
0.90
mg/l
0.23
29
72
46
145
14.20
16.19
33.5
5.0
—
—
—
0
0
26
46
9.82
15.90
5.1
1.5
—
—
—
0
0
47
167
13.41
14.92
18.2
4.1
35.89
37.03
g/l
0.91
47
160
50
211
16.00
13.85
32.4
5.6
9.94
11.07
umol/l
0.38
50
197
48
192
12.74
13.59
11.5
2.6
75.98
72.52
nmol/l
0.42
48
174
38
119
8.10
13.17
15.7
2.5
7.39
7.39
ph
0.10
33
79
44
169
9.02
12.05
19.5
6.2
1.20
1.22
mmol/l
0.60
44
150
33
97
7.01
11.97
8.8
4.5
—
—
—
0
0
19
39
6.92
9.68
11.7
5.6
0.75
0.54
%
—
8
13
19
41
6.55
9.17
12.1
5.4
1.00
0.67
%
—
9
15
47
237
7.73
9.01
17.9
5.3
7.23
6.29
mmol/l
1.46
47
214
44
204
6.78
8.77
42.7
9.1
0.00
0.00
e9/l
-0.00
39
168
18
39
6.37
8.61
12.7
5.6
0.00
0.00
%
—
8
12
8
0
+∞
8.54
2.5
0.0
—
—
—
0
0
8
0
+∞
8.54
4.3
0.0
—
—
—
0
0
18
40
6.20
8.37
12.6
5.9
0.00
0.36
%
—
7
11
37
154
5.29
8.24
17.4
4.5
—
—
—
0
0
28
95
4.97
8.01
5.1
3.1
88.38
112.71
mg/l
0.10
22
54
7
0
+∞
7.45
4.7
0.0
2.11
—
mg/l
—
7
0
10
5
23.91
7.44
1.2
1.6
—
—
—
0
0
27
97
4.50
7.02
6.3
3.6
14.38
17.41
mg/mmol
0.08
21
57
31
131
4.13
6.33
3.4
1.5
2.60
2.03
g/l
1.03
25
69
10
9
13.23
6.07
6.3
4.9
5.66
2.60
e9/l
—
10
9
11
14
9.50
5.66
2.0
3.9
—
—
—
0
0
8
5
18.34
5.59
4.3
1.0
8.85
3.96
pmol/l
—
8
5
14
27
6.58
5.55
6.7
3.0
7.42
7.41
ph
0.57
14
22
15
40
4.78
5.53
8.4
4.0
7.38
7.36
ph
—
8
23
34
166
3.75
5.38
3.8
2.0
—
—
—
0
0
16
46
4.49
5.37
1.1
1.2
—
—
—
0
0
13
24
6.74
5.32
1.3
1.3
—
—
—
0
0
5
0
+∞
5.28
1.0
0.0
—
—
—
0
0
5
0
+∞
5.28
1.0
0.0
—
—
—
0
0
5
0
+∞
5.28
1.0
0.0
—
—
—
0
0
14
29
6.10
5.26
9.2
16.6
7.39
7.42
ph
—
8
15
9
9
11.66
5.24
5.0
2.1
7.42
7.43
ph
—
9
9
10
13
9.11
5.11
6.2
3.8
59.10
54.03
%
—
10
13
22
83
3.75
5.09
8.0
2.3
500.00
581.20
mosm/kgh2o
1.03
22
71
10
15
7.87
4.71
1.5
1.1
118.00
169.80
au/ml
—
5
5
10
15
7.87
4.71
1.5
1.1
—
—
—
0
0
7
5
15.73
4.71
2.1
4.0
93.54
92.22
%
—
7
5
8
8
11.43
4.69
1.3
1.5
—
—
—
0
0
24
103
3.36
4.48
7.5
2.2
7.14
5.72
e6/l
0.21
24
95
24
103
3.36
4.48
4.2
3.4
—
—
—
0
0
7
6
13.10
4.40
3.0
1.8
—
—
—
0
0
12
28
5.18
4.12
11.7
15.7
26.53
24.88
mmol/l
0.75
12
28
14
45
3.83
3.98
1.8
1.8
—
—
—
0
0
29
148
3.03
3.94
1.8
1.5
0.63
1.36
u/ml
—
6
20
13
35
4.54
3.92
16.2
14.5
—
—
—
0
0
12
30
4.82
3.88
1.8
1.5
—
—
—
0
0
6
5
13.22
3.85
1.2
1.4
106.83
127.60
pmol/l
—
6
5
10
21
5.57
3.77
1.2
1.3
—
—
—
0
0
8
13
6.99
3.65
1.0
1.1
—
—
—
0
0
13
38
4.16
3.62
1.4
1.2
—
—
—
0
0
43
285
3.33
3.50
12.9
3.4
—
—
—
0
0
7
10
7.82
3.48
2.3
2.4
—
—
—
0
0
13
41
3.83
3.35
1.2
1.5
—
—
—
0
0
6
7
9.42
3.35
3.0
1.6
2.27
2.33
u/ml
—
6
7
10
25
4.65
3.28
11.5
3.4
22.81
23.66
mmol/l
—
10
25
24
120
2.77
3.26
25.0
6.0
—
—
—
0
0
14
53
3.20
3.08
1.9
1.5
1423.44
1207.11
nmol/l
—
9
32
5
5
10.81
3.04
1.2
1.4
28.80
29.20
s
—
5
5
6
9
7.31
2.94
1.8
2.0
15.92
15.51
%
—
6
9
6
9
7.31
2.94
2.0
1.3
—
—
—
0
0
5
6
9.00
2.80
3.2
3.7
13.02
15.25
mu/l
—
5
6
6
10
6.57
2.77
2.0
1.3
—
—
—
0
0
7
15
5.18
2.69
9.9
3.3
24.77
23.91
mmol/l
—
7
15
24
133
2.43
2.54
4.2
2.5
—
—
—
0
0
10
33
3.47
2.51
8.0
4.3
4.70
4.34
kpa
—
10
33
5
8
6.73
2.42
3.2
1.5
7.86
8.36
kpa
—
5
8
5
8
6.73
2.42
3.4
1.5
5.28
4.92
kpa
—
5
8
35
235
2.35
2.33
7.4
3.2
0.00
0.00
estimate
-0.00
14
45
35
236
2.33
2.30
7.4
3.2
0.00
0.00
estimate
-0.00
15
45
28
172
2.28
2.29
2.6
1.8
77.36
99.31
pmol/l
1.56
16
84
23
130
2.32
2.28
5.0
2.9
21.81
24.51
ng/l
0.18
17
76
7
19
4.06
2.23
12.3
3.3
—
—
—
0
0
16
78
2.48
2.18
2.8
3.0
1672.91
132.49
ng/l
1.24
11
45
35
240
2.26
2.16
7.4
3.2
0.00
0.00
estimate
-0.00
15
43
29
187
2.17
2.05
4.7
3.1
6.50
6.26
ph
0.41
17
99
7
21
3.66
2.04
1.0
3.3
—
—
—
0
0
7
21
3.66
2.04
2.0
4.4
1.04
0.54
%
—
7
21
5
13
4.11
1.75
1.4
5.8
37.00
36.95
°c
—
5
13
21
127
2.06
1.69
3.2
2.5
—
—
—
0
0
40
309
2.08
1.58
14.1
3.8
—
—
—
0
0
45
364
2.30
1.57
6.2
4.0
14.41
14.52
pmol/l
0.12
45
339
5
16
3.33
1.47
1.4
1.3
—
—
—
0
0
16
92
2.04
1.45
2.2
1.7
—
—
—
0
0
5
17
3.13
1.39
22.0
24.5
0.78
0.74
%
—
5
17
5
110
0.40
1.31
1.0
1.6
—
—
—
0
0
8
36
2.43
1.31
9.4
3.0
—
—
—
0
0
28
201
1.80
1.29
5.6
2.7
—
—
estimate
—
0
0
5
19
2.79
1.24
22.0
22.3
1.50
1.82
%
—
5
19
5
19
2.79
1.24
22.0
22.3
93.00
92.76
%
—
5
19
5
19
2.79
1.24
1.2
1.2
—
—
—
0
0
5
20
2.64
1.17
2.6
1.3
0.25
0.23
g/l
—
5
20
9
46
2.14
1.10
1.3
1.3
—
—
—
0
0
0
28
0.00
1.01
0.0
1.9
—
—
—
0
0
0
28
0.00
1.01
0.0
1.1
—
—
—
0
0
25
184
1.66
0.99
6.4
3.0
0.00
0.00
estimate
-0.00
15
38
20
140
1.67
0.95
7.1
2.4
0.00
0.00
estimate
-0.00
15
38
18
126
1.64
0.84
6.8
3.5
0.00
0.00
estimate
-0.00
13
44
0
25
0.00
0.81
0.0
1.6
—
—
—
0
0
10
60
1.81
0.78
2.3
1.8
—
—
—
0
0
5
27
1.93
0.70
2.6
3.4
—
—
—
0
0
20
154
1.47
0.60
1.6
1.5
—
—
—
0
0
0
23
0.00
0.59
0.0
1.5
—
—
—
0
0
0
23
0.00
0.59
0.0
1.5
—
1.21
—
0
16
14
183
0.68
0.52
4.4
2.7
—
—
—
0
0
5
31
1.67
0.44
16.8
3.7
7.40
7.40
ph
—
5
19
9
65
1.46
0.41
1.8
1.2
—
—
—
0
0
16
126
1.38
0.41
2.4
1.9
—
—
—
0
0
7
55
1.31
0.31
1.0
2.5
—
—
—
0
0
7
55
1.31
0.31
1.0
2.4
—
—
—
0
0
7
56
1.29
0.31
1.0
2.4
—
—
—
0
0
7
56
1.29
0.31
1.0
2.4
—
—
—
0
0
14
116
1.28
0.25
5.1
3.0
—
—
—
0
0
19
166
1.22
0.22
2.4
2.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
13
0.00
0.21
0.0
6.4
—
—
—
0
0
12
103
1.21
0.15
1.2
2.0
—
—
—
0
0
5
43
1.18
0.10
1.0
2.6
—
—
—
0
0
6
53
1.15
0.09
1.0
2.5
—
—
—
0
0
12
125
0.95
0.00
3.3
3.1
1.01
1.02
kg/l
2.93
12
74
0
6
0.00
0.00
0.0
15.3
—
0.61
—
0
6
0
6
0.00
0.00
0.0
1.2
—
108.92
—
0
6
0
8
0.00
-0.00
0.0
2.1
—
1.48
—
0
8
0
8
0.00
-0.00
0.0
3.6
—
102.63
—
0
8
0
7
0.00
-0.00
0.0
2.3
—
4.13
—
0
7
0
5
0.00
-0.00
0.0
1.0
—
29.70
—
0
5
0
5
0.00
-0.00
0.0
3.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
25.4
—
801.20
—
0
5
0
7
0.00
-0.00
0.0
5.3
—
428.86
—
0
7
0
5
0.00
-0.00
0.0
1.2
—
234.20
—
0
5
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
28.4
—
1437.20
—
0
5

Mortality – FinRegistry

Association

Association between endpoint E4_CYSTFIBRO_INT and mortality.

Females

No data

Males

Parameter HR [95% CI] p-value
E4_CYSTFIBRO_INT 5.01 [2.97, 8.45] < 0.001
Birth year 0.985 [0.98, 0.99] 0.003

During the follow-up period (1.1.1998 — 31.12.2019), 60 out of 145 males with E4_CYSTFIBRO_INT died.

Mortality risk

Mortality risk for people of age

years, who have E4_CYSTFIBRO_INT.

N-year risk Females Males
1 No data 0.832%
5 No data 5.121%
10 No data 13.024%
15 No data 23.573%
20 No data 36.963%

Relationships between endpoints

Index endpoint: E4_CYSTFIBRO_INT – Cystic fibrosis with intestinal manifestations

GWS hits: 9

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
loading spinner Loading data