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 (14.48)
Rabphilin 3A
RPH3A (12q23.3)


* Congenital myasthenic syndrome related to RPH3A - (11.38)
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 (11.17, 16.28)
* Fetal akinesia deformation sequence 2 - FADS2 (11.17, 16.28)
Receptor accessory protein 1(M)
REEP1 (2p11.2)


* Spastic paraplegia 31 - SPG31 (12.23, 15.12)
* Distal spinal muscular atrophy, type VB - DSMAVB (12.23, 15.12)
Receptor expression-enhancing proten 2
REEP2 (5q31.2)


* Spastic paraplegia 72, autosomal recessive - SPG72 (15.19, 15.61)
* Spastic paraplegia 72, autosomal dominant - SPG72 (15.19, 15.61)
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 (14.10)
Ribitol xylosyltransferase 1 (transmembrane protein 5)
RXYLT1 (12q14.2)


* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10 (2.39)
Ribonuclease H1(M)
RNASEH1 (2p25.3)


* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - PEOB2 (16.40)
Ribonucleotide reductase M2 B (TP53 inducible)(M)
RRM2B (8q23.1)


* 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)
Ring finger protein 216
RNF216 (7p22.1)


* Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - GDHS (13.93)
RNA binding motif protein 20
RBM20 (10q25.3)


* Cardiomyopathy, dilated, 1DD - CMD1DD (10.65)
RNA binding motif protein 7
RBM7 (11q23.2)


* Spinal motor neuropathy - (12.31)
RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein
RUBCN (3q29)


* Spinocerebellar ataxia, autosomal recessive 15 - SCAR15 (13.68)
Ryanodine receptor 1 (skeletal)
RYR1 (19q13.1)


* myopathy, congenital, with fiber-type disproportion - CFTD (2.53, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 3.64, 5.32, 8.1, 16.30)
* Fetal akinesia deformation sequence related to RYR1 - (2.53, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 3.64, 5.32, 8.1, 16.30)
* Central core disease - CCD (2.53, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 3.64, 5.32, 8.1, 16.30)
* Malignant hyperthermia susceptibility 1 - MHS1 (2.53, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 3.64, 5.32, 8.1, 16.30)
* Dusty core disease related to RYR1 - DuCD (2.53, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 3.64, 5.32, 8.1, 16.30)
* centronuclear myopathy, recessive - (2.53, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 3.64, 5.32, 8.1, 16.30)
* minicore myopathy with external ophthalmoplegia - (2.53, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 3.64, 5.32, 8.1, 16.30)
Ryanodine receptor 2
RYR2 (1q43)


* Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 (10.104, 10.115)
* Arrhythmogenic right ventricular dysplasia 2 - ARVD2 (10.104, 10.115)
* Ventricular tachycardia, catecholaminergic polymorphic - CPVT (10.104, 10.115)
* Ventricular tachycardia, stress-induced polymorphic - VTSIP (10.104, 10.115)
Ryanodine receptor 3
RYR3 (15q13-q14)


* Myopathy with nemaline bodies - (3.13)
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