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Noonan syndrome

Q17_NOONAN

Endpoint definition

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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 Q87.14
  • Cause of death: ICD-10 Q87.14

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

42

4. Check minimum number of events

None

42

5. Include endpoints

None

42

6. Filter based on genotype QC (FinnGen only)

40

Control definitions (FinnGen only)

Control exclude
Q17_OTHER_CONGEN_MALFO

Extra metadata

First used in FinnGen datafreeze
DF12

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

All Female Male
Number of individuals 40 21 19
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 14.69 24.89 3.42

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

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.

No data available

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
23
55
8.03
10.55
3.3
13.2
31.75
31.57
s
0.04
23
55
18
68
3.88
4.25
3.2
5.8
0.61
1.84
mg/l
—
8
56
21
91
3.62
4.01
3.7
3.5
—
—
—
0
0
23
109
3.45
3.77
7.1
11.0
—
—
—
0
0
9
18
6.05
3.60
1.2
1.3
—
—
—
0
0
31
184
3.61
3.42
9.0
10.9
0.00
0.00
e9/l
-0.00
26
145
10
36
3.32
2.33
2.4
10.1
105.30
104.94
mmol/l
—
10
36
29
191
2.67
2.23
9.7
9.5
0.64
0.65
%
0.06
29
181
30
203
2.67
2.15
9.7
9.1
24.05
34.68
%
5.66
30
194
29
195
2.57
2.07
9.8
9.2
2.86
3.08
%
0.22
29
181
29
197
2.53
2.00
9.9
9.5
10.90
8.16
%
6.38
29
187
29
199
2.48
1.93
9.9
8.9
60.25
51.51
%
3.68
29
189
26
172
2.34
1.85
4.3
2.4
—
—
—
0
0
28
195
2.31
1.72
8.4
9.9
—
—
—
0
0
9
40
2.58
1.52
3.3
1.9
—
—
—
0
0
18
109
2.14
1.51
4.2
4.2
9.35
8.95
e6/l
0.02
11
73
16
95
2.11
1.39
3.9
3.5
28.82
13.77
e6/l
0.30
11
71
9
44
2.33
1.37
5.0
3.6
—
—
—
0
0
15
88
2.10
1.34
2.7
3.6
—
—
—
0
0
13
73
2.13
1.29
4.3
2.3
—
—
—
0
0
8
39
2.29
1.23
10.0
13.6
4.20
5.29
mmol/l
—
8
39
9
47
2.16
1.11
3.0
7.1
5.80
5.83
umol/l
—
9
40
17
111
1.89
1.10
1.3
1.6
—
—
—
0
0
28
219
1.84
0.99
10.2
6.4
77.89
104.97
u/l
1.93
28
210
6
30
2.16
0.91
2.0
3.4
0.17
0.22
g/l
—
6
30
10
59
1.91
0.85
5.0
10.8
6.98
5.72
kpa
—
10
59
0
26
0.00
0.81
0.0
2.6
—
—
—
0
0
10
60
1.88
0.80
3.2
8.8
—
—
—
0
0
9
55
1.81
0.80
5.4
11.4
5.46
5.47
kpa
—
9
55
10
61
1.84
0.77
5.7
2.9
561.30
573.25
mosm/kgh2o
—
10
51
10
64
1.74
0.66
18.8
14.0
24.30
24.64
mmol/l
—
10
64
10
64
1.74
0.66
4.3
2.7
2.16
4.69
e6/l
—
10
58
8
53
1.63
0.63
29.9
9.0
—
—
—
0
0
42
399
+∞
0.62
33.9
17.5
6.52
6.88
e9/l
0.48
42
387
6
34
1.89
0.62
1.8
1.8
2.36
2.44
mmol/l
—
6
29
0
22
0.00
0.61
0.0
1.0
—
6.81
—
0
16
0
22
0.00
0.61
0.0
1.0
—
3.43
—
0
16
42
398
+∞
0.61
34.1
17.5
242.02
269.18
e9/l
1.02
42
387
42
398
+∞
0.61
34.0
17.4
4.84
4.57
e12/l
3.03
42
387
42
397
+∞
0.60
33.8
18.1
40.72
39.64
%
0.98
42
380
0
23
0.00
0.60
0.0
1.0
—
0.55
—
0
16
6
40
1.58
0.54
3.2
2.1
—
—
—
0
0
8
58
1.47
0.45
23.4
8.8
23.88
24.18
mmol/l
—
8
58
0
15
0.00
0.42
0.0
2.2
—
—
—
0
0
0
16
0.00
0.42
0.0
4.4
—
268.69
—
0
16
0
16
0.00
0.42
0.0
1.3
—
—
—
0
0
0
16
0.00
0.42
0.0
4.3
—
3.31
—
0
16
0
16
0.00
0.42
0.0
1.3
—
—
—
0
0
0
16
0.00
0.42
0.0
1.3
—
—
—
0
0
5
34
1.53
0.42
2.2
2.3
4.26
11.99
iu/l
—
5
28
0
17
0.00
0.41
0.0
1.4
—
—
—
0
0
7
51
1.45
0.34
3.3
11.2
24.71
23.45
mmol/l
—
7
51
7
55
1.33
0.32
1.4
1.2
—
—
—
0
0
8
61
1.38
0.31
6.0
4.7
—
—
—
0
0
12
95
1.37
0.30
3.7
2.7
2.33
2.38
mmol/l
0.71
12
90
12
96
1.35
0.28
1.7
1.9
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.7
—
—
—
0
0
0
11
0.00
0.21
0.0
6.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.7
—
—
—
0
0
0
12
0.00
0.21
0.0
1.6
—
—
—
0
0
0
14
0.00
0.20
0.0
5.4
—
—
—
0
0
8
71
1.16
0.17
2.1
3.7
—
—
—
0
0
9
79
1.18
0.17
7.8
2.0
—
—
—
0
0
8
96
0.79
0.16
2.9
1.8
—
—
—
0
0
14
127
1.15
0.09
1.6
1.8
1.69
1.69
g/l
—
9
70
8
91
0.85
0.07
2.3
2.2
—
—
—
0
0
12
129
0.90
0.04
1.5
1.8
0.40
3.80
u/ml
—
5
22
22
217
1.03
0.00
5.6
3.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
6.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
142.93
—
0
6
0
5
0.00
-0.00
0.0
1.8
—
0.52
—
0
5
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
11.2
—
983.80
—
0
5
0
9
0.00
-0.00
0.0
3.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
91.14
—
0
5
0
6
0.00
-0.00
0.0
33.2
—
12.47
—
0
6
0
8
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
6.94
—
0
5
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
8
0.00
-0.00
0.0
3.5
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.8
—
13.50
—
0
5
0
5
0.00
-0.00
0.0
2.4
—
—
—
0
0
6
67
0.88
-0.00
4.2
3.1
—
1.02
—
0
6
0
5
0.00
-0.00
0.0
13.8
—
1819.20
—
0
5
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
7.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
280.00
—
0
5
0
7
0.00
-0.00
0.0
6.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.9
—
6.59
—
0
8
0
6
0.00
-0.00
0.0
1.8
—
2.88
—
0
6
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0

Mortality – FinRegistry

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

Index endpoint: Q17_NOONAN – Noonan syndrome

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).