Gene table

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

FA2H
fatty acid 2-hydroxylase

16q21-q23.1
* Spastic paraplegia 35, autosomal recessive - SPG35 (15.35)
* Dysmyelinating leukodystrophy - FAHN (15.35)

FBLN5
Fibulin 5 (extra-cellular matrix)

14q32.12
* Charcot-Marie-Tooth neuropathy, with fibulin defect - (14.10)

FGD4
actin-filament binding protein Frabin

12p11.21
* Charcot-Marie-Tooth neuropathy Type 4H - CMT4H (14.24)

FGF14
fibroblast growth factor 14

13q34
* Spinocerebellar ataxia 27 - SCA27 (13.25)

FHL1
four and a half LIM domain 1

Xq26.3
* Scapuloperoneal myopathy - XPMD (1.3, 2.15, 5.18, 5.19, 5.20)
* Emery-dreifuss muscular dystrophy 6 - EDMD6 (1.3, 2.15, 5.18, 5.19, 5.20)
* X-linked myopathy with postural muscle atrophy - XMPMA (1.3, 2.15, 5.18, 5.19, 5.20)
* Myopathy, reducing body, X-linked, severe early-onset - (1.3, 2.15, 5.18, 5.19, 5.20)
* Myopathy, reducing body, X-linked, childhood-onset - (1.3, 2.15, 5.18, 5.19, 5.20)
* rigid spine muscular dystrophy 1 - RSMD1 (1.3, 2.15, 5.18, 5.19, 5.20)

FIG4
polyphosphoinositide phosphatase activity

6q21
* charcot-marie-tooth disease, type 4j - CMT4J (14.25)

FKRP
fukutin-related protein

19q13.33
* Walker-Warburg syndrome - WWS3 (1.27, 2.3, 2.9, 2.12)
* Muscle-eye-brain disease - MEB (1.27, 2.3, 2.9, 2.12)
* Muscular dystrophy, congenital, 1C - MDC1C (1.27, 2.3, 2.9, 2.12)
* Muscular dystrophy, limb-girdle, type 2I - LGMD2I (1.27, 2.3, 2.9, 2.12)

FKTN
fukutin

9q31-q33
* Walker-warburg syndrome - WWS (1.31, 2.5, 2.6, 10.53)
* fukuyama congenital muscular dystrophy - FCMD (1.31, 2.5, 2.6, 10.53)
* Limb-girdle, muscular dystrophy, type 2m - LGMD2M (1.31, 2.5, 2.6, 10.53)

FLNA
filamin A, alpha (actin binding protein 280)

Xq28
* Myxomatous valvular dystrophy, X-ninked - XMVD (10.71)
* cardiac valvular dysplasia, x-linked - CVD1 (10.71)

FLNC
filamin C, gamma (actin-binding protein - 280)

7q32
* Myopathy, myofibrillar, filamin C-related - MFM5 (4.16, 5.8)
* Myopathy, distal, 4 - MPD4 (4.16, 5.8)

FUS
fusion (involved in t(12;16) in malignant liposarcoma)

16q12
* Amyotrophic lateral sclerosis - ALS6 (12.27)

FXN
frataxin

9q13-q21.1
* Friedreich ataxia - FRDA (13.36)
* Friedreich ataxia with retained reflexes - FARR (13.36)