Gene product table
Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| Rab-interacting lysosomal protein-like 1 | RILPL1 (12q24.31)     
| * Oculopharyngodistal myopathy 4 - OPDM4 (5.26) |
| RAB7, member RAS oncogene family | RAB7A (3q21)
| * Charcot-Marie-Tooth neuropathy Type 2B - CMT2B (14.49) |
| Rabphilin 3A | RPH3A (12q23.3)
| * Congenital myasthenic syndrome related to RPH3A - (11.40) |
| RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin | RBCK1 (20p13)
| * Polyglucosan Body Myopathy 1 with or without immunodeficiency - PGBM1 (9.10) |
| Rapsyn | RAPSN (11p11.2-p11.1)
| * Myasthenic syndrome, congenital - CMS1D (11.19, 17.30)* Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency - CMS11 (11.19, 17.30)* Fetal akinesia deformation sequence 2 - FADS2 (11.19, 17.30) |
| Receptor accessory protein 1(M) | REEP1 (2p11.2)
| * Spastic paraplegia 31 - SPG31 (12.10, 12.34, 15.13)* Distal spinal muscular atrophy, type VB - DSMAVB (12.10, 12.34, 15.13)* Neuronopathy, distal hereditary motor, autosomal dominant 12 - HMND12 (12.10, 12.34, 15.13)* Neuropathy, distal hereditary motor, autosomal recessive 6 - HMNR6 (12.10, 12.34, 15.13) |
| Receptor expression-enhancing proten 2 | REEP2 (5q31.2)
| * Spastic paraplegia 72, autosomal recessive - SPG72 (15.20, 15.63)* Spastic paraplegia 72, autosomal dominant - SPG72 (15.20, 15.63) |
| Replication Factor C Subunit 1 | RFC1 (4p14)
| * Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome - CANVAS (14.125) |
| Reticulon 2 | RTN2 (19q13)
| * Spastic paraplegia 12 - SPG12 (12.15, 15.7) |
| Rho guanine nucleotide exchange factor 10 | ARHGEF10 (8p23)
| * Slowed nerve conduction velocity, autosomal dominant - NCV (14.13) |
| Ribitol xylosyltransferase 1 (transmembrane protein 5) | RXYLT1 (12q14.2)
| * Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10 (2.28) |
| Ribonuclease H1(M) | RNASEH1 (2p25.3)
| * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - PEOB2 (16.8) |
| Ribonucleotide reductase M2 B (TP53 inducible)(M) | RRM2B (8q23.1)
| * Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A (16.5, 17.40, 17.41)* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.5, 17.40, 17.41) |
| Ribosomal protein L3-like | RPL3L (16p13.3)
| * Dilated cardiomyopathy, 2D - CMD2D (10.84) |
| Ring finger protein 170 | RNF170 (8p11.21)
| * Spastic paraplegia 85, autosomal recessive - SPG85 (15.74) |
| Ring finger protein 216 | RNF216 (7p22.1)
| * Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - GDHS (13.105) |
| Ring finger protein 220 | RNF220 (1p34.1)
| * Leukodystrophy hypomyelinating 23 with ataxia, deafness, liver dysfunction and dilated cardiomyopathy - HLD23 (13.107) |
| RNA binding motif protein 20 | RBM20 (10q25.3)
| * Cardiomyopathy, dilated, 1DD - CMD1DD (10.67) |
| RNA binding motif protein 7 | RBM7 (11q23.2)
| * Spinal motor neuropathy - (12.40) |
| RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein | RUBCN (3q29)
| * Spinocerebellar ataxia, autosomal recessive 15 - SCAR15 (13.75) |
| Ryanodine receptor 1 (skeletal) | RYR1 (19q13.1)
| * myopathy, congenital, with fiber-type disproportion - CFTD (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32) * Fetal akinesia deformation sequence related to RYR1 - (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32) * Central core disease - CCD (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32)* Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - CMYP1A (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32)* Malignant hyperthermia susceptibility 1 - MHS1 (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32)* Dusty core disease related to RYR1 - DuCD (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32)* centronuclear myopathy, recessive - (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32)* minicore myopathy with external ophthalmoplegia - (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32)* Congenital myopathy 1B, recessive - CMYP1B (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32) |
| Ryanodine receptor 2 | RYR2 (1q43)
| * Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 (10.116, 10.128)* Arrhythmogenic right ventricular dysplasia 2 - ARVD2 (10.116, 10.128)* Ventricular tachycardia, catecholaminergic polymorphic - CPVT (10.116, 10.128)* Ventricular tachycardia, stress-induced polymorphic - VTSIP (10.116, 10.128) |
| Ryanodine receptor 3 | RYR3 (15q13-q14)
| * Myopathy with nemaline bodies - (3.15) |
