Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
RAB7, member RAS oncogene family
RAB7A (3q21)


* Charcot-Marie-Tooth neuropathy Type 2B - CMT2B (14.42)
RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin
RBCK1 (20p13)


* Polyglucosan storage myopathy - (9.11)
Rapsyn
RAPSN (11p11.2-p11.1)


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


* Spastic paraplegia 31 - SPG31 (12.16, 15.12)
* Distal spinal muscular atrophy, type VB - DSMAVB (12.16, 15.12)
Reticulon 2
RTN2 (19q13)


* Spastic paraplegia 12 - SPG12 (15.7)
Rho guanine nucleotide exchange factor 10
ARHGEF10 (8p23)


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


* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.20, 16.23)
Ring finger protein 216
RNF216 (7p22.1)


* Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - GDHS (13.68)
RNA binding motif protein 20
RBM20 (10q25.3)


* Cardiomyopathy, dilated, 1DD - CMD1DD (10.62)
RNA binding motif protein 7
RBM7 (11q23.2)


* Spinal motor neuropathy - (12.23)
Ryanodine receptor 1 (skeletal)
RYR1 (19q13.1)


* myopathy, congenital, with fiber-type disproportion - CFTD (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
* Central core disease - CCD (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
* Malignant hyperthermia susceptibility 1 - MHS1 (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
* centronuclear myopathy, recessive - (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
* minicore myopathy with external ophthalmoplegia - (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
Ryanodine receptor 2
RYR2 (1q42.1-q43)


* Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 (10.80, 10.91)
* Arrhythmogenic right ventricular dysplasia 2 - ARVD2 (10.80, 10.91)
* Ventricular tachycardia, catecholaminergic polymorphic - CPVT (10.80, 10.91)
* Ventricular tachycardia, stress-induced polymorphic - VTSIP (10.80, 10.91)