Familial cold autoinflammatory syndrome 1 (FCAS1)
NLPR3
|
AD
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Familial Mediterranean fever (FMF)
|
MEFV
|
AR
|
10
|
18
|
16
|
22
|
11
|
8
|
|
Fanconi anemia, complementation group A (FANCA)
|
FANCA
|
AR
|
2
|
5
|
2
|
3
|
2
|
2
|
|
Fanconi anemia, complementation group C (FANCC)
|
FANCC
|
AR
|
2
|
5
|
4
|
8
|
1
|
1
|
|
Fetal akinesia deformation sequence (FADS)
|
NUP88
|
AR
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Fetal akinesia deformation sequence (FADS)
|
RAPSN
|
AR
|
1
|
1
|
1
|
2
|
1
|
0
|
|
Fragile‐X mental retardation syndrome
|
FMR1
|
XL
|
312
|
608
|
450
|
662
|
243
|
214
|
|
Fraser syndrome 1 (FRASRS1)
|
FRAS1
|
AR
|
2
|
2
|
2
|
2
|
1
|
1
|
|
Friedreich ataxia 1 (FRDA)
|
FXN
|
AR
|
2
|
6
|
4
|
7
|
2
|
2
|
|
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (FTDALS1)
|
c9orf72
|
AD
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Fructose intolerance, hereditary
|
ALDOB
|
AR
|
2
|
7
|
6
|
7
|
3
|
3
|
|
Fumarase deficiency (FMRD)
|
FH
|
AR
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Galactosemia
|
GALT
|
AR
|
3
|
7
|
5
|
6
|
2
|
2
|
|
Gastric cancer, hereditary diffuse (HDGC)
|
CDH1
|
AD
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Gaucher disease, type I
|
GBA
|
XL
|
39
|
52
|
34
|
57
|
24
|
19
|
|
Geroderma osteodysplasticum (GO)
|
GORAB
|
AR
|
1
|
2
|
2
|
4
|
1
|
1
|
|
Gitelman syndrome (GTLMNS)
|
SLC12A3
|
AR
|
1
|
1
|
1
|
1
|
0
|
0
|
|
Glaucoma 3, primary congenital, A (GLC3A)
|
CYP1B1
|
AR
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Glut1 deficiency syndrome 1 (GLUT1DS1)
|
SLC2A1
|
AD
|
1
|
2
|
1
|
2
|
0
|
0
|
|
Glutaric acidemia I
|
GCDH
|
AR
|
1
|
1
|
1
|
Familial cold autoinflammatory syndrome 1 (FCAS1)
