No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
244 |
4. Check minimum number of eventsNone |
244 |
5. Include endpointsNone |
244 |
6. Filter based on genotype QC (FinnGen only) |
244 |
Control definitions (FinnGen only)
- Control exclude
- Q17_OTHER_CONGEN_MALFO
Extra metadata
- First used in FinnGen datafreeze
- DF12
Similar endpoints
↥List of similar endpoints to
Neurofibromatosis, type 1
based on the number of shared cases.
Similar with more cases:
- Phakomatoses, not elsewhere classified
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
This endpoint is excluded (different definition than used in FinnGen).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 244 | 149 | 95 |
| Unadjusted period prevalence (%) | 0.05 | 0.05 | 0.04 |
| Median age at first event (years) | 36.12 | 36.50 | 35.53 |
-FinnGen-
Age distribution of first events
-FinnGen-
Year distribution of first events
-FinnGen-
Cumulative Incidence Function
No data
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
↥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
16
18
9.44
13.03
3.3
2.5
2.2
3.0
nmol/l
0.34
16
18
42
163
2.90
8.13
7.0
12.4
-0.5
1.1
mmol/l
1.32
27
127
119
758
2.11
7.55
7.3
6.7
1.2
1.2
mmol/l
2.94
112
697
33
121
3.00
7.03
7.6
7.1
23.1
24.9
mmol/l
3.05
33
121
122
822
1.97
6.28
8.3
7.4
1.2
1.2
mmol/l
1.50
102
712
11
23
4.96
5.06
1.8
1.5
—
—
—
0
0
13
39
3.46
3.82
2.2
1.7
—
—
—
0
0
6
6
10.21
3.51
5.2
3.3
64.2
41.2
nmol/l
—
6
6
11
32
3.55
3.37
1.8
1.5
—
—
—
0
0
71
478
1.68
3.22
3.8
3.4
0.0
0.0
estimate
0.80
21
175
20
88
2.39
3.03
12.0
12.8
1.2
1.6
%
0.88
20
88
72
496
1.64
2.96
2.7
2.7
0.8
0.4
e6/l
0.35
62
357
86
620
1.60
2.94
3.2
2.9
—
—
—
0
0
9
24
3.85
2.70
1.7
1.5
—
—
—
0
0
19
87
2.28
2.65
12.6
13.1
0.6
0.7
%
0.28
19
87
41
250
1.77
2.62
2.1
2.2
29.4
29.8
s
0.25
41
242
11
38
2.98
2.61
5.7
3.4
58.0
56.7
%
0.09
11
38
7
15
4.77
2.61
1.0
1.7
—
—
—
0
0
17
345
0.45
2.61
1.4
1.2
1.1
6.5
u/ml
—
5
136
138
1617
0.66
2.53
3.3
3.6
—
—
—
0
0
19
89
2.23
2.52
1.4
1.3
—
—
—
0
0
24
124
2.04
2.50
2.7
2.5
77.3
72.0
ml/min/173m2
—
8
53
28
154
1.92
2.46
4.0
3.4
—
—
—
0
0
11
40
2.83
2.41
1.3
1.2
—
—
—
0
0
109
862
1.48
2.33
4.4
4.1
—
—
—
0
0
7
19
3.76
2.16
1.9
1.6
—
—
—
0
0
77
587
1.46
1.92
2.7
3.1
22.4
23.7
ng/l
0.08
44
343
89
699
1.43
1.89
4.4
4.9
34.7
36.7
g/l
2.41
80
660
30
185
1.71
1.86
12.2
7.3
106.2
104.4
mmol/l
1.14
30
180
26
154
1.77
1.85
5.6
4.3
1.2
2.1
mmol/l
0.64
17
119
114
939
1.40
1.84
6.8
6.1
10.9
11.9
umol/l
0.38
107
892
5
12
4.23
1.83
1.2
1.6
16.2
18.3
ug/l
—
5
12
114
943
1.39
1.78
5.0
4.3
0.0
0.0
estimate
0.50
23
176
7
24
2.97
1.73
1.9
1.5
—
—
—
0
0
19
105
1.88
1.68
1.6
1.6
—
—
—
0
0
43
299
1.53
1.67
2.5
2.3
1.3
0.7
e6/l
0.39
24
158
14
70
2.06
1.62
1.6
1.4
—
—
—
0
0
5
14
3.62
1.62
1.6
1.1
—
—
—
0
0
11
50
2.26
1.59
1.7
1.5
—
—
—
0
0
114
956
1.36
1.58
3.7
3.1
0.0
0.0
estimate
0.00
24
165
113
947
1.36
1.57
3.8
3.1
0.0
0.0
estimate
0.00
19
177
39
272
1.52
1.50
2.6
2.5
4.7
2.4
e6/l
0.92
22
132
29
189
1.61
1.48
1.7
1.7
—
—
—
0
0
211
1968
1.53
1.48
17.7
12.6
139.3
139.7
mmol/l
1.29
204
1906
6
22
2.77
1.44
1.2
1.0
—
—
—
0
0
14
247
0.54
1.44
2.0
1.6
—
—
—
0
0
23
352
0.62
1.40
1.3
1.3
11.2
29.3
iu/ml
—
5
119
70
553
1.37
1.39
2.4
2.6
48.4
56.7
u/l
2.08
61
520
211
1975
1.51
1.38
17.7
12.6
3.9
3.9
mmol/l
0.03
204
1909
72
575
1.36
1.33
3.1
3.4
2.4
2.4
mmol/l
0.28
65
511
55
422
1.39
1.30
2.1
2.3
—
—
—
0
0
11
55
2.05
1.29
6.7
5.8
1.2
1.3
mg/l
0.61
11
49
27
391
0.65
1.29
1.9
2.1
—
—
—
0
0
6
25
2.43
1.25
1.7
1.5
—
—
—
0
0
10
49
2.09
1.24
1.8
1.5
—
—
—
0
0
30
421
0.67
1.23
2.1
2.2
—
—
—
0
0
87
726
1.31
1.18
3.7
3.1
—
—
—
0
0
27
189
1.48
1.04
1.7
1.8
—
—
—
0
0
7
34
2.09
1.03
2.1
1.4
—
—
—
0
0
7
34
2.09
1.03
2.0
2.6
26.6
25.0
mmol/l
—
7
29
5
23
2.20
0.98
1.2
1.3
—
—
—
0
0
27
194
1.44
0.93
7.3
6.1
—
—
—
0
0
8
44
1.85
0.86
1.6
2.2
—
—
—
0
0
155
1426
1.24
0.85
7.5
6.8
75.8
75.7
u/l
0.00
144
1335
6
31
1.96
0.85
1.2
1.1
—
—
—
0
0
35
269
1.35
0.84
1.8
1.9
—
—
—
0
0
0
24
0.00
0.79
0.0
1.1
—
—
—
0
0
0
24
0.00
0.79
0.0
1.1
—
—
—
0
0
0
24
0.00
0.79
0.0
1.1
—
—
—
0
0
8
48
1.69
0.79
1.1
1.5
—
—
—
0
0
6
34
1.78
0.77
1.5
3.0
11.3
40.3
u/ml
—
6
34
7
38
1.87
0.74
1.7
1.5
—
—
—
0
0
5
25
2.02
0.73
1.2
1.3
—
—
—
0
0
9
58
1.57
0.70
1.1
1.4
446.7
406.9
mg/l
—
9
53
51
425
1.25
0.69
1.8
1.8
0.7
0.8
mg/l
0.18
40
331
39
316
1.28
0.66
3.4
3.1
532.6
290.1
ng/l
0.20
23
213
16
113
1.45
0.63
1.7
2.4
373.2
849.1
u/l
—
6
42
173
1819
0.83
0.61
3.5
3.4
1.2
1.3
mmol/l
0.72
153
1701
0
20
0.00
0.60
0.0
1.7
—
—
—
0
0
0
21
0.00
0.60
0.0
3.4
—
65.9
—
0
21
0
23
0.00
0.58
0.0
1.1
—
—
—
0
0
0
23
0.00
0.58
0.0
1.1
—
—
—
0
0
11
159
0.68
0.56
1.5
1.5
—
—
—
0
0
9
62
1.47
0.53
1.2
1.3
—
—
—
0
0
6
39
1.55
0.53
5.2
6.3
—
768.6
—
0
7
14
103
1.38
0.46
1.8
2.7
9.7
5.7
ug/l
0.33
14
94
5
85
0.58
0.46
1.2
1.4
—
—
—
0
0
5
85
0.58
0.46
1.2
1.4
—
—
—
0
0
5
85
0.58
0.46
1.2
1.4
—
—
—
0
0
10
69
1.47
0.45
4.8
3.0
52.9
55.3
%
—
10
69
183
1896
0.86
0.42
3.8
3.8
1.5
1.5
mmol/l
0.12
166
1775
86
787
1.14
0.42
2.5
2.4
71.3
74.5
nmol/l
0.59
80
717
26
214
1.24
0.41
2.6
2.4
27.1
24.7
%
0.25
21
187
123
1154
1.13
0.41
10.0
9.1
4.5
4.0
e9/l
1.62
108
1009
37
317
1.20
0.41
1.7
1.6
366.4
460.2
pmol/l
2.16
27
281
0
18
0.00
0.40
0.0
1.1
—
—
—
0
0
0
18
0.00
0.40
0.0
1.1
—
—
—
0
0
35
299
1.20
0.40
4.7
3.7
24.9
21.6
%
0.74
18
120
5
35
1.44
0.39
1.4
1.4
—
—
—
0
0
5
35
1.44
0.39
1.0
1.3
7.7
22.9
u/l
—
5
29
19
152
1.27
0.38
1.4
3.9
2.5
9.6
ug/l
1.50
14
118
8
112
0.70
0.38
2.8
2.0
—
—
—
0
0
15
116
1.31
0.38
3.5
6.2
1.7
1.3
mmol/l
—
9
92
9
69
1.32
0.37
1.1
1.1
—
—
—
0
0
49
546
0.87
0.34
1.5
1.4
1.5
2.0
u/ml
0.17
13
134
6
90
0.66
0.33
1.8
1.5
—
—
—
0
0
15
120
1.27
0.31
3.5
6.0
5.0
5.1
kpa
0.20
15
114
175
1697
1.11
0.28
3.9
4.7
36.1
38.5
mmol/mol
4.23
161
1607
49
538
0.89
0.28
1.5
1.6
—
—
—
0
0
8
66
1.22
0.27
1.0
1.1
—
18.0
—
0
11
8
67
1.20
0.26
1.9
2.5
158.8
169.1
%
—
8
67
11
138
0.79
0.26
1.2
1.3
—
35.8
—
0
10
160
1548
1.10
0.26
4.5
3.7
14.8
14.6
pmol/l
0.29
148
1417
186
1905
0.90
0.25
3.9
3.8
4.7
4.7
mmol/l
0.01
170
1794
11
137
0.79
0.25
1.1
1.0
—
—
—
0
0
6
81
0.73
0.24
1.5
1.3
—
—
—
0
0
5
39
1.29
0.23
1.2
1.3
—
—
—
0
0
5
39
1.29
0.23
1.2
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
2.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
8.9
—
0
10
0
12
0.00
0.21
0.0
1.8
—
852.8
—
0
12
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
1630.7
—
0
12
0
12
0.00
0.21
0.0
2.2
—
—
—
0
0
5
43
1.17
0.21
1.4
1.5
—
—
—
0
0
0
13
0.00
0.21
0.0
1.3
—
—
—
0
0
16
136
1.19
0.20
1.5
1.3
—
—
—
0
0
0
14
0.00
0.20
0.0
2.7
—
—
—
0
0
145
1407
1.08
0.19
2.9
3.0
36.5
42.4
u/l
0.69
140
1345
6
53
1.14
0.19
1.2
2.0
—
—
—
0
0
22
196
1.13
0.17
2.9
3.8
33.6
31.6
%
0.41
17
129
199
1958
1.09
0.17
15.2
12.4
40.9
40.7
%
0.17
138
1591
8
71
1.13
0.16
1.5
1.4
—
—
—
0
0
7
89
0.78
0.14
1.3
2.1
34.1
41.3
u/l
—
7
81
216
2135
1.10
0.14
9.8
8.9
22.6
27.2
u/l
4.72
205
2067
10
84
1.20
0.14
1.6
1.8
—
—
—
0
0
183
1802
1.06
0.12
14.6
10.1
96.9
90.2
ml/min/173m2
2.74
160
1430
190
1926
0.94
0.12
4.2
4.2
2.9
2.8
mmol/l
0.44
172
1799
23
211
1.10
0.11
2.8
2.5
0.8
0.6
ug/l
0.59
16
120
36
382
0.93
0.11
1.4
1.4
—
—
—
0
0
5
60
0.83
0.08
1.4
1.5
—
—
—
0
0
5
65
0.76
0.08
1.8
2.1
—
—
—
0
0
64
620
1.04
0.08
1.7
1.8
92.6
95.9
pmol/l
0.22
38
321
41
428
0.95
0.08
2.1
2.7
341.6
5331.8
umol/l
1.78
34
377
6
75
0.80
0.07
1.3
1.6
—
—
—
0
0
143
1412
1.03
0.06
3.3
3.8
11.3
9.5
mm/h
0.66
131
1315
22
231
0.95
0.04
1.9
2.1
—
—
—
0
0
16
170
0.94
0.04
3.9
3.6
206.8
229.7
u/l
0.46
16
164
202
2032
0.97
0.04
14.1
11.5
25.5
22.0
mg/l
0.60
160
1516
231
2302
1.07
0.02
22.0
16.8
136.9
136.9
g/l
0.02
226
2267
52
513
1.02
0.01
1.5
1.6
1.3
1.4
mmol/l
0.60
47
437
20
194
1.03
0.00
1.6
1.9
—
—
—
0
0
182
1824
0.99
0.00
3.8
3.8
5.5
5.8
mmol/l
4.01
164
1694
184
1839
1.00
0.00
5.1
4.4
1.8
1.8
mu/l
0.17
169
1712
26
256
1.02
0.00
1.9
1.6
928.0
1180.7
nmol/l
0.99
20
193
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
2.9
—
—
—
0
0
0
7
0.00
0.00
0.0
2.9
—
—
—
0
0
6
68
0.88
0.00
2.8
1.8
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
9.9
—
0
7
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
9
98
0.92
0.00
1.9
1.7
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
0.00
0.0
4.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
3.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
6
62
0.97
0.00
1.0
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
99.3
—
0
6
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
6
61
0.98
0.00
1.0
1.1
—
—
—
0
0
Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_NEUROFIBROMATOSIS_1 – Neurofibromatosis, type 1
GWS hits: -
This endpoint is excluded (different definition than used in FinnGen).