Disease 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

Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Familial brachial plexus neuropathy
SEPT9 (17q25)

Familial hypertrophic cardiomyopathy
MYH7 (14q12)
myosin, heavy polypeptide 7, cardiac muscle, beta

Familial limb-girdle myasthenia
DOK7 (4p16.2)
docking protein 7

familial sinusal bradycardia
HCN4 (15q24.1)
hyperpolarization activated cyclic nucleotide-gated potassium channel 4

Familial spastic paraplegia, autosomal dominant, 1
SPG3A (14q22.1)
atlastin

Familial spastic paraplegia, autosomal dominant, 2
SPAST (2p24-p21)
spastin

Fatty aldehyde dehydrogenase
ALDH3A2 (17p11.2)
aldehyde dehydrogenase 3A2

Fibrodysplasia ossificans progressiva
ACVR1 (2q23-q24)
activin A receptor, type II-like kinase 2

Fibrosis of extraocular muscles, congenital, 1
KIF21A (12q12)
kinesin family member 21A

Fibrosis of extraocular muscles, congenital, 2
PHOX2A (11q13.2)
paired-like aristaless homeobox protein 2A

Fibrosis of extraocular muscles, congenital, 3
? - (16q24.2-q24.3)
Filamin C-related
FLNC (7q32)
filamin C, gamma (actin-binding protein - 280)

Filaminopathy, autosomal dominant
FLNC (7q32)
filamin C, gamma (actin-binding protein - 280)

Friedreich ataxia
FXN (9q13-q21.1)
frataxin

friedreich ataxia 2
? - (9p23-p11)
Friedreich ataxia with retained reflexes
FXN (9q13-q21.1)
frataxin

fukuyama congenital muscular dystrophy
FKTN (9q31-q33)
fukutin