Bethlem myopathy

Disease Term Disease ID Gene Symbol References
BETHLEM MYOPATHY 2 C4225313 COL12A1 24334769, 24334604, 27348394, 27159402
BETHLEM MYOPATHY 1 C1834674 COL6A1 24801232, 22975586, 20976770, 17785674, 28877744, 11865138, 10419498, 28182637, 18825676, 23661642, 15955946, 24223098, 8218237, 8782832, 16130093, 28424332, 25535305, 19564581, 22075033, 23738969, 19884007, 19344236, 18366090, 24038877, 21280092, 15689448, 17886299, 27708273, 24271325, 21520333, 7695699, 12840783, 26867126, 29417091
COL6A2 17785673, 17886299, 19884007, 27854218, 24038877, 8218237, 20976770, 11865138, 7695699, 23326386, 19344236, 15689448, 19949035, 19309692, 21520333, 25380242, 20576434, 25533456, 25535305, 18366090, 24801232, 21280092, 19564581, 8782832
COL6A3 9536084, 18366090, 15689448, 15563506, 17886299, 19564581, 19344236, 7695699, 20976770, 24038877, 26004199, 27854218, 18825676, 28688748, 21280092, 8218237, 26247046, 10399756, 27447704
COL12A1 24334604, 24334769
BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE C4225638 COL6A2
Bethlem myopathy 610 COL6A1
COL6A2
COL6A3
COL12A1