Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| Rab-interacting lysosomal protein-like 1 | |  * Oculopharyngodistal myopathy 4 - OPDM4 (5.24)
|
RAB7, member RAS oncogene family | | * Charcot-Marie-Tooth neuropathy Type 2B - CMT2B (14.49)
| Rabphilin 3A | | * Congenital myasthenic syndrome related to RPH3A - (11.40)
| RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin | | * Polyglucosan Body Myopathy 1 with or without immunodeficiency - PGBM1 (9.11)
| Rapsyn | | * Myasthenic syndrome, congenital - CMS1D (11.19, 16.28)
* Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency - CMS11 (11.19, 16.28)
* Fetal akinesia deformation sequence 2 - FADS2 (11.19, 16.28)
| Receptor accessory protein 1(M) | | * Spastic paraplegia 31 - SPG31 (12.24, 15.12)
* Distal spinal muscular atrophy, type VB - DSMAVB (12.24, 15.12)
* Neuronopathy, distal hereditary motor, type VB - HMN5B (12.24, 15.12)
| Receptor expression-enhancing proten 2 | | * Spastic paraplegia 72, autosomal recessive - SPG72 (15.19, 15.61)
* Spastic paraplegia 72, autosomal dominant - SPG72 (15.19, 15.61)
| Replication Factor C Subunit 1 | | * Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome - CANVAS (14.122)
| Reticulon 2 | | * Spastic paraplegia 12 - SPG12 (15.7)
| Rho guanine nucleotide exchange factor 10 | | * Slowed nerve conduction velocity, autosomal dominant - NCV (14.11)
| Ribitol xylosyltransferase 1 (transmembrane protein 5) | | * Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10 (2.39)
| Ribonuclease H1(M) | | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - PEOB2 (16.40)
| Ribonucleotide reductase M2 B (TP53 inducible)(M) | | * Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A (16.37, 16.50, 16.51)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.37, 16.50, 16.51)
| Ribosomal protein L3-like | | * Dilated cardiomyopathy, 2D - CMD2D (10.83)
| Ring finger protein 216 | | * Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - GDHS (13.99)
| Ring finger protein 220 | | * Leukodystrophy hypomyelinating 23 with ataxia, deafness, liver dysfunction and dilated cardiomyopathy - HLD23 (13.101)
| RNA binding motif protein 20 | | * Cardiomyopathy, dilated, 1DD - CMD1DD (10.67)
| RNA binding motif protein 7 | | * Spinal motor neuropathy - (12.33)
| RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein | | * Spinocerebellar ataxia, autosomal recessive 15 - SCAR15 (13.71)
| Ryanodine receptor 1 (skeletal) | | * myopathy, congenital, with fiber-type disproportion - CFTD (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
* Fetal akinesia deformation sequence related to RYR1 - (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
* Central core disease - CCD (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
* Malignant hyperthermia susceptibility 1 - MHS1 (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
* Dusty core disease related to RYR1 - DuCD (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
* centronuclear myopathy, recessive - (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
* minicore myopathy with external ophthalmoplegia - (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
| Ryanodine receptor 2 | | * Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 (10.112, 10.124)
* Arrhythmogenic right ventricular dysplasia 2 - ARVD2 (10.112, 10.124)
* Ventricular tachycardia, catecholaminergic polymorphic - CPVT (10.112, 10.124)
* Ventricular tachycardia, stress-induced polymorphic - VTSIP (10.112, 10.124)
| Ryanodine receptor 3 | | * Myopathy with nemaline bodies - (3.13)
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