Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Barth syndrome (10.90, 10.103) | 302060 | TAZ (Xq28) Tafazzin       |
| Becker muscular distrophy (1.1, 10.91) | 300376 | DMD (Xp21.2) Dystrophin |
| Bethlem myopathy (2.8, 2.4) | 158810 | COL6A3 (2q37) Alpha 3 type VI collagen |
| Bethlem myopathy (2.2, 2.6) | 158810 | COL6A1 (21q22.3) Alpha 1 type VI collagen |
| Bethlem myopathy (2.5, 2.4, 2.7, 2.12, 2.3) | 158810 | COL6A2 (21q22.3) Alpha 2 type VI collagen |
| Bethlem myopathy 2 (2.9, 2.10, 2.11) | 616471 | COL12A1 (6q13-q14) Collagen type XII alpha 1 chain |
| Brody disease (6.9) | 601003 | ATP2A1 (16p12.1) ATPase, Ca++ transporting, fast twitch 1 |
| Brown-Vialetto-Van Laere syndrome 1 (12.105) | 211530 | SLC52A3 (20p13) Solute carrier family 52, riboflavin transporter, member 3 |
| Brown-Vialetto-Van Laere syndrome 2 (12.106) | 614707 | SLC52A2 (8q24) Solute carrier family 52, riboflavin transporter, member 2 |
| Brugada syndrome (10.186) | TMEM168 (7q31.1 ) Transmembrane protein 168 | |
| Brugada syndrome 1 (10.138, 10.43, 10.177, 10.187, 10.167) | 601144 | SCN5A (3p22.2) Voltage-gated sodium channel type V alpha |
| brugada syndrome 2 (10.178) | 611777 | GPD1L (3p22.3) Glycerol-3-phosphate dehydrogenase 1-like |
| brugada syndrome 3 (10.143, 10.179) | 611875 | CACNA1C (12p13.33) Calcium channel, voltage-dependent, L type, alpha 1C subunit |
| brugada syndrome 4 (10.180) | 611876 | CACNB2 (10p12.33-p12.31 ) Calcium channel, voltage-dependent, beta 2 subunit |
| Brugada syndrome 5 (10.181, 10.170) | 612838 | SCN1B (19q13.11) Sodium channel, voltage-gated, type I, beta subunit |
| Brugada syndrome 6 (7.11, 10.182) | 613119 | KCNE3 (11q13.4) Potassium voltage-gated channel, Isk-related family, member 3 |
| Brugada syndrome 7 (10.183, 10.173) | 613120 | SCN3B (11 q24.1) Sodium channel, voltage-gated, type III, beta subunit |
| Brugada syndrome 8 (10.188, 10.184) | 613123 | HCN4 (3p22.2) Hyperpolarization activated cyclic nucleotide-gated potassium channel 4 |
| Brugada syndrome 9 (13.17, 10.185) | 616399 | KCND3 (1p13.2) Potassium voltage-gated channel, Shal-related subfamily, member 3 |