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
|
2
|
0
|
0
|
|
Glycine encephalopathy (GCE)
|
GLDC
|
AR
|
6
|
7
|
6
|
11
|
6
|
6
|
|
Glycogen storage disease Ia (GSD1A)
|
G6PC
|
AR
|
1
|
1
|
2
|
2
|
0
|
0
|
|
Glycogen storage disease II (GSD2)
|
GAA
|
AR
|
5
|
7
|
4
|
9
|
1
|
1
|
|
Glycogen storage disease IXa1 (GSD9A1)
|
PHKA2
|
XL
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Glycogen storage disease VII (GSD7)
|
PFKM
|
AR
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Gm1‐gangliosidosis, type I
|
GLB1
|
AR
|
5
|
5
|
5
|
10
|
4
|
4
|
