X linked Lymphoproliferative Syndrome
Gene: XIAP
X linked Lymphoproliferative Syndrome
Gene: SH2D1A
Rhabdoid tumor, predisposition
Gene: SMARCB1
Schwannomatosis
Gene: SMARCB1
Proteus syndrome
Gene: PTEN
Resistency to 5-fluorouracil
Gene: DPYD
Peutz-Jeghers syndrome
Gene: STK11
Proteus syndrome
Gene: AKT1
Neuroblastoma, predisposition
Gene: KIF1B