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 (5.25)
RAB7, member RAS oncogene family
RAB7A (3q21)


* Charcot-Marie-Tooth neuropathy Type 2B - CMT2B (14.56)
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 (9.11)
Rapsyn
RAPSN (11p11.2-p11.1)


* Myasthenic syndrome, congenital - CMS1D (11.19, 16.29)
* Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency - CMS11 (11.19, 16.29)
* Fetal akinesia deformation sequence 2 - FADS2 (11.19, 16.29)
Receptor accessory protein 1(M)
REEP1 (2p11.2)


* Spastic paraplegia 31 - SPG31 (12.18, 12.35, 15.14)
* Distal spinal muscular atrophy, type VB - DSMAVB (12.18, 12.35, 15.14)
* Neuronopathy, distal hereditary motor, autosomal dominant 12 - HMND12 (12.18, 12.35, 15.14)
* Neuropathy, distal hereditary motor, autosomal recessive 6 - HMNR6 (12.18, 12.35, 15.14)
Receptor expression-enhancing proten 2
REEP2 (5q31.2)


* Spastic paraplegia 72, autosomal recessive - SPG72 (15.21, 15.66)
* Spastic paraplegia 72, autosomal dominant - SPG72 (15.21, 15.66)
Replication Factor C Subunit 1
RFC1 (4p14)


* Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome - CANVAS (14.128)
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 (14.11)
Ribitol xylosyltransferase 1 (transmembrane protein 5)
RXYLT1 (12q14.2)


* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10 (2.27)
Ribonuclease H1(M)
RNASEH1 (2p25.3)


* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - PEOB2 (16.41)
Ribonucleotide reductase M2 B (TP53 inducible)(M)
RRM2B (8q23.1)


* Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A (16.38, 16.51, 16.52)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.38, 16.51, 16.52)
Ribosomal protein L3-like
RPL3L (16p13.3)


* Dilated cardiomyopathy, 2D - CMD2D (10.85)
Ring finger protein 170
RNF170 (8p11.21)


* Spastic paraplegia 85, autosomal recessive - SPG85 (15.77)
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 (10.68)
RNA binding motif protein 7
RBM7 (11q23.2)


* Spinal motor neuropathy - (12.12)
RNA, U12 small nuclear
RNU12 (22q13.2)


* Spinocerebellar ataxia, autosomal recessive 33 - SCAR33 (13.93)
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 (2.50, 3.24, 3.26, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
* Fetal akinesia deformation sequence related to RYR1 - (2.50, 3.24, 3.24, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
* Central core disease - CCD (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
* Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - CMYP1A (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
* Malignant hyperthermia susceptibility 1 - MHS1 (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
* Dusty core disease related to RYR1 - DuCD (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
* centronuclear myopathy, recessive - (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
* minicore myopathy with external ophthalmoplegia - (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
* Congenital myopathy 1B, recessive - CMYP1B (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
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 - (3.16)