Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Barth syndrome (10.57, 10.75)
302060
TAZ (Xq28)
Tafazzin



Becker muscular distrophy (1.1, 10.58)
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 (2.3, 2.5, 2.7, 2.12)
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 myopathy (6.9)
601003
ATP2A1 (16p12.1)
ATPase, Ca++ transporting, fast twitch 1



Brown-Vialetto-Van Laere syndrome 1 (12.71)
211530
SLC52A3 (20p13)
Solute carrier family 52, riboflavin transporter, member 3



Brown-Vialetto-Van Laere syndrome 2 (12.72)
614707
SLC52A2 (8q24)
Solute carrier family 52, riboflavin transporter, member 2



Brugada syndrome (10.104, 7.7, 10.35, 10.134, 10.141)
601144
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



brugada syndrome 2 (10.135)
611777
GPD1L (3p22.3)
Glycerol-3-phosphate dehydrogenase 1-like



brugada syndrome 3 (10.109, 10.136)
611875
CACNA1C (12p13.3)
Calcium channel, voltage-dependent, L type, alpha 1C subunit



brugada syndrome 4 (10.137)
611876
CACNB2 (10p12)
Calcium channel, voltage-dependent, beta 2 subunit



Brugada syndrome 5 (10.138, 10.131)
612838
SCN1B (19q13.12)
Sodium channel, voltage-gated, type I, beta subunit



Brugada syndrome 6 (7.11, 10.139)
613119
KCNE3 (11q13-q14)
Potassium voltage-gated channel, Isk-related family, member 3



Brugada syndrome 7 (10.140)
613120
SCN3B (11 q24.1)
Sodium channel, voltage-gated, type III, beta subunit