| Syndrome |
Gene |
Chromosome |
Location |
Category |
| Rabson-Mendenhall syndrome | INSR | 19 | p13.2 | Diabetes | |
| Rapid-onset dystonia parkinsonism | ATP1A3 | 19 | q13.2 | Panic phobia anxiety | |
| RAR-RELATED ORPHAN RECEPTOR A | RORA | 15 | q22.2 | Autism spectrum | |
| RAYNAUD-CLAES SYNDROME | MRXSRC | 23 | p22.2 | Autism spectrum | |
| Refsum disease | PEX7 | 6 | q23.3 | Ataxia spectrum | |
| Refsum disease | PHYH | 10 | p13 | Ataxia spectrum | |
| Renpenning syndrome | PQBP1 | 23 | p11.23 | Microcephaly | |
| RENPENNING SYNDROME 1 | RENS1 | 23 | p11.23 | Autism spectrum | |
| Restless legs syndrome | BTBD9 | 6 | p21.2 | Sleep disorders | |
| Restless legs syndrome | MAP2K5 | 15 | q23 | Sleep disorders | |
| Restless legs syndrome | MEIS1 | 2 | p14 | Sleep disorders | |
| Restless legs syndrome | PTPRD | 9 | p24.1 | Sleep disorders | |
| Restless legs syndrome | SKOR1 | 15 | q23 | Sleep disorders | |
| Restless legs syndrome | TOX3 | 16 | q12.1 | Sleep disorders | |
| Rett Syndrome | MECP2 | 23 | q28 | Autism spectrum | |
| Rett Syndrome | RTT | 23 | q28 | Autism spectrum | |
| Rett Syndrome | WDR45 | 23 | p11.23 | Autism spectrum | |
| Rheumatoid arthritis | AFF3 | 2 | q11.2 | Arthritis | |
| Rheumatoid arthritis | ARID5B | 10 | q21.2 | Arthritis | |
| Rheumatoid arthritis | BLK | 8 | p23.1 | Arthritis | |
| Rheumatoid arthritis | C5 | 9 | q33.2 | Arthritis | |
| Rheumatoid arthritis | CCL21 | 9 | p13.3 | Arthritis | |
| Rheumatoid arthritis | CCR6 | 6 | q27 | Arthritis | |
| Rheumatoid arthritis | CD2 | 1 | p13.1 | Arthritis | |
| Rheumatoid arthritis | CD28 | 2 | q33.2 | Arthritis | |
| Rheumatoid arthritis | CD40 | 20 | q13.12 | Arthritis | |
| Rheumatoid arthritis | CD5 | 11 | q12.2 | Arthritis | |
| Rheumatoid arthritis | CD58 | 1 | p13.1 | Arthritis | |
| Rheumatoid arthritis | CTLA4 | 2 | q33.2 | Arthritis | |
| Rheumatoid arthritis | FCGR2A | 1 | q23.3 | Arthritis | |
| Rheumatoid arthritis | FCGR2B | 1 | q23.3 | Arthritis | |
| Rheumatoid arthritis | GATA3 | 10 | p14 | Arthritis | |
| Rheumatoid arthritis | HLA-B | 6 | p21.33 | Arthritis | |
| Rheumatoid arthritis | HLA-DPB1 | 6 | p21.32 | Arthritis | |
| Rheumatoid arthritis | HLA-DRB1 | 6 | p21.32 | Arthritis | |
| Rheumatoid arthritis | IKZF3 | 17 | q12-q21.1 | Arthritis | |
| Rheumatoid arthritis | IL2 | 4 | q27 | Arthritis | |
| Rheumatoid arthritis | IL21 | 4 | q27 | Arthritis | |
| Rheumatoid arthritis | IL2RA | 10 | p15.1 | Arthritis | |
| Rheumatoid arthritis | IL2RB | 22 | q12.3 | Arthritis | |
| Rheumatoid arthritis | IL6R | 1 | q21.3 | Arthritis | |
| Rheumatoid arthritis | IL6ST | 5 | q11.2 | Arthritis | |
| Rheumatoid arthritis | IRAK1 | 23 | q28 | Arthritis | |
| Rheumatoid arthritis | IRF5 | 7 | q32.1 | Arthritis | |
| Rheumatoid arthritis | IRF8 | 16 | q24.1 | Arthritis | |
| Rheumatoid arthritis | KIF5A | 12 | q13.3 | Arthritis | |
| Rheumatoid arthritis | NFKBIL1 | 6 | p21.33 | Arthritis | |
| Rheumatoid arthritis | PADI4 | 1 | p36.13 | Arthritis | |
| Rheumatoid arthritis | PIP4K2C | 12 | q13.3 | Arthritis | |
| Rheumatoid arthritis | POU3F1 | 1 | p34.3 | Arthritis | |
| Rheumatoid arthritis | PRDM1 | 6 | q21 | Arthritis | |
| Rheumatoid arthritis | PRKCQ | 10 | p15.1 | Arthritis | |
| Rheumatoid arthritis | PTPN22 | 1 | p13.2 | Arthritis | |
| Rheumatoid arthritis | PTPRC | 1 | q31.3 | Arthritis | |
| Rheumatoid arthritis | PXK | 3 | p14.3 | Arthritis | |
| Rheumatoid arthritis | RASGRP1 | 15 | q14 | Arthritis | |
| Rheumatoid arthritis | RBPJ | 4 | p15.2 | Arthritis | |
| Rheumatoid arthritis | RCAN1 | 21 | q22.12 | Arthritis | |
| Rheumatoid arthritis | REL | 2 | p16.1 | Arthritis | |
| Rheumatoid arthritis | RUNX1 | 21 | q22.12 | Arthritis | |
| Rheumatoid arthritis | SPRED2 | 2 | p14 | Arthritis | |
| Rheumatoid arthritis | STAT4 | 2 | q32.2-3 | Arthritis | |
| Rheumatoid arthritis | TAGAP | 6 | q25.3 | Arthritis | |
| Rheumatoid arthritis | TLE3 | 15 | q23 | Arthritis | |
| Rheumatoid arthritis | TNFAIP3 | 6 | q23.3 | Arthritis | |
| Rheumatoid arthritis | TNFRSF14 | 1 | p36.32 | Arthritis | |
| Rheumatoid arthritis | TRAF1 | 9 | q33.2 | Arthritis | |
| Rheumatoid arthritis | TRAF6 | 11 | p12 | Arthritis | |
| Rheumatoid arthritis | TYK2 | 19 | p13.2 | Arthritis | |
| Rhizomelic chondrodysplasia punctata type 1 | PEX7 | 6 | q23.3 | Rhizomelic chondrodysplasia punctata | |
| Rhizomelic chondrodysplasia punctata type 2 | GNPAT | 1 | q42.2 | Rhizomelic chondrodysplasia punctata | |
| Rhizomelic chondrodysplasia punctata type 3 | AGPS | 2 | q31.2 | Rhizomelic chondrodysplasia punctata | |
| Rigidity and multifocal seizure syndrome lethal neonatal (RMFSL) | BRAT1 | 7 | p22.3 | Microcephaly | |
| RING FINGER PROTEIN 135 | RNF135 | 17 | q11.2 | Autism spectrum | |
| Ritscher-Schinzel syndrome 2 (RTSC2) | CCDC22 | 23 | p11.23 | Copper metabolism defects | |
| RNA-BINDING PROTEIN FOX1 | RBFOX1 | 16 | p13.3 | Autism spectrum | |
| Roberts syndrome | ESCO2 | 8 | p21.1 | Cleft lip / cleft palate | |
| Rolandic epilepsy with speech dyspraxia and mental retardation X-linked | SRPX2 | 23 | q22.1 | Epilepsy and seizures | |
| Romano-Ward syndrome | ANK2 | 4 | q25-q27 | Bradycardia (<60 beats/minute) | |
| Rothmund-Thomson syndrome | RECQL4 | 8 | q24.3 | Cataracts | |
| Rubinstein-Taybi syndrome | CREBBP | 16 | p13.3 | Autism spectrum | |
| Rubinstein-Taybi syndrome | EP300 | 22 | q13.2 | Autism spectrum | |
| RUBINSTEIN-TAYBI SYNDROME 1 | RSTS1 | 16 | p13.3 | Autism spectrum | |
| RUBINSTEIN-TAYBI SYNDROME 2 | RSTS2 | 22 | q13.2 | Autism spectrum | |