Disease Term Disease ID Gene Symbol References
ARTERIAL TORTUOSITY SYNDROME C1859726, 3342 SMAD3
NT5E
TGFB2
TGFBR1
TGFBR2
SLC2A10 22488877, 17935213, 16550171, 19622975, 23494979, 18774132, 18818946, 17163528, 26376865, 25373504, 20547159, 19781076, 14569121, 23410549, 18565096