Loeys-dietz syndrome

Disease Term Disease ID Gene Symbol References
Loeys-Dietz Aortic Aneurysm Syndrome C1836635 SMAD3 22772368
TGFB2 22772368
TGFB3
TGFBR1 20358619, 22772368, 15731757, 16928994
TGFBR2 16928994, 15235604, 20358619, 22772368, 15731757, 18084123, 19006214
Loeys-Dietz Syndrome C2697932, 60030 COL3A1 26888179, 2243125
FBN1
SMAD2 29392890
SMAD3 22772368, 23161884
TGFB2 22772368, 23161884
TGFB3 25835445
TGFBR1 16799921, 18703712, 25644172, 16928994, 18781618, 16791849, 27879313, 22772368, 24355923, 8242743, 18455604, 26888179, 22113417, 15731757, 21358634, 21267002, 19883511, 19542084, 26877057, 20358619, 26848186
TGFBR2 28182693, 23161884, 16835936, 24220024, 16928994, 22772368, 26888179, 21098638, 16799921, 18084123, 15731757, 16283890, 27879313, 18852674, 18781618, 12975342, 20358619, 23884466, 22095581, 17935258, 19006214, 22772377, 21267002, 17330129, 22113417, 15235604
LOEYS-DIETZ SYNDROME 3 C3151087 SMAD3 21217753, 22167769, 11285272, 21778426, 29392890, 23161884, 17589920, 23782924
LOEYS-DIETZ SYNDROME 4 C3553762 TGFB2 23161884, 22772371, 29392890, 22772368
TGFB3 1631557, 23824657, 25835445, 24798638, 26184463, 22943793
IFT43 23824657, 22943793, 1631557, 24798638, 25835445, 26184463
Loeys-Dietz Syndrome, Type 1a C4551955 SMAD3 22772368
TGFB2 22772368
TGFB3
TGFBR1 15731757, 16928994, 16799921, 20358619, 24896178, 16791849, 22113417, 19883511, 22772368, 26888179, 18070134, 16596670
TGFBR2 18084123, 22772368, 15235604, 19006214, 20358619
RIENHOFF SYNDROME C3810012 TGFB3 24798638, 25835445, 23824657
IFT43