Gene product 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

Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
rapsyn
RAPSN (11p11.2-p11.1)

* Myasthenic syndrome, congenital - CMS1D (11.11)
receptor accessory protein 1
REEP1 (2p11.2)

* Spastic paraplegia 31 - SPG31 (15.12)
Rho guanine nucleotide exchange factor 10
ARHGEF10 (8p23)

* Slowed nerve conduction velocity, autosomal dominant - NCV (14.9)
ribonucleotide reductase M2 B (TP53 inducible)
RRM2B (8q23.1)

* Mitochondrial dna depletion syndrome 8A - MTDP8B (16.20, 16.23)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.20, 16.23)
RNA binding motif protein 20
RBM20 (10q25.3)

* Cardiomyopathy, dilated, 1DD - CMD1DD (10.59)
ryanodine receptor 1 (skeletal)
RYR1 (19q13.1)

* myopathy, congenital, with fiber-type disproportion - CFTD (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
* Central core disease - CCD (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
* Malignant hyperthermia susceptibility 1 - MHS1 (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
* centronuclear myopathy, recessive - (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
* minicore myopathy with external ophthalmoplegia - (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
ryanodine receptor 2
RYR2 (1q42.1-q43)

* Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 (10.73, 10.84)
* Arrhythmogenic right ventricular dysplasia 2 - ARVD2 (10.73, 10.84)
* Ventricular tachycardia, catecholaminergic polymorphic - CPVT (10.73, 10.84)
* Ventricular tachycardia, stress-induced polymorphic - VTSIP (10.73, 10.84)