Disease Term Disease ID Gene Symbol References
Telangiectasia, Hereditary Hemorrhagic, Type 1 C4551861 ACVRL1 17786384, 20135064, 16429404, 17384219, 23722869, 15065824, 16470787, 24196379, 15517393, 17219009, 18673552, 15024723, 23919827
ENG 9554745, 30251589, 16429404, 7894484, 15712270, 10982033, 28989145, 26699722, 10545596, 20135064, 15024723, 15115879, 10625079, 20414677, 16525724, 14684682, 16752392, 9157574, 9245986
GDF2 26801773
Telangiectasia macularis eruptiva perstans C0263402, 90389 KIT