Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| rapsyn | | * Myasthenic syndrome, congenital - CMS1D (11.11)
|
receptor accessory protein 1 | | * Spastic paraplegia 31 - SPG31 (15.12)
| Rho guanine nucleotide exchange factor 10 | | * Slowed nerve conduction velocity, autosomal dominant - NCV (14.9)
| ribonucleotide reductase M2 B (TP53 inducible) | | * 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 | | * Cardiomyopathy, dilated, 1DD - CMD1DD (10.59)
| ryanodine receptor 1 (skeletal) | | * 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 | | * 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)
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